Sfoglia per Autore
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024-01-01 Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
Identification of the DNA methylation signature of Mowat-Wilson syndrome
2024-01-01 Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry
2024-01-01 Calcaterra, Valeria; Tornese, Gianluca; Zuccotti, Gianvincenzo; Staiano, Annamaria; Cherubini, Valentino; Gaudino, Rossella; Fazzi, Elisa Maria; Barbi, Egidio; Chiarelli, Francesco; Corsello, Giovanni; Esposito, Susanna Maria Roberta; Ferrara, Pietro; Iughetti, Lorenzo; Laforgia, Nicola; Maghnie, Mohamad; Marseglia, Gianluigi; Perilongo, Giorgio; Pettoello-Mantovani, Massimo; Ruggieri, Martino; Russo, Giovanna; Salerno, Mariacarolina; Striano, Pasquale; Valerio, Giuliana; Wasniewska, Malgorzata; null, null; Agosti, Massimo; Agostoni, Carlo Virginio; Aiuti, Alessandro; Azzari, Chiara; Badolato, Raffaele; Balduzzi, Adriana; Baraldi, Eugenio; Canani, Roberto Berni; Biffi, Alessandra; Biondi, Andrea; Bisogno, Gianni; Pierri, Nicola Brunetti; Carnielli, Virginio; Cianfarani, Stefano; Cogo, Paola; Corvaglia, Luigi; Dani, Carlo; Di Salvo, Giovanni; Fagioli, Franca; Fanos, Vassilios; Ferrero, Giovanni Battista; Francavilla, Ruggiero; Galli, Luisa; Gazzolo, Diego; Giaquinto, Carlo; Giordano, Paola; Gitto, Eloisa; Grosso, Salvatore; Guarino, Alfredo; Indrio, Flavia; Lanari, Marcello; Lionetti, Paolo; Locatelli, Franco; Lombardo, Fortunato; Maffeis, Claudio; Marino, Bruno; Midulla, Fabio; Del Giudice, Emanuele Miraglia; Del Giudice, Michele Miraglia; Montini, Giovanni; Parenti, Giancarlo; Parisi, Pasquale; Peroni, Diego; Perrotta, Silverio; Piacentini, Giorgio; Pietrobelli, Angelo; Raimondi, Francesco; Ramenghi, Ugo; Ravelli, Angelo; Romano, Claudio; Rossi, Francesca; Rossi, Paolo; Damiano, Vincenzo Salpietro; Spalice, Alberto; Suppiej, Agnese; Troncone, Riccardo; Verrotti, Alberto
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
2024-01-01 van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
2023-01-01 Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; Palazzolo, Luca; Di Luca, Monica; Costa, Alex; Marcantoni, Andrea; Biamino, Elisa; Spada, Marco; Hiatt, Susan M; Kelley, Whitley V; Vestito, Letizia; Sisodiya, Sanjay M; Efthymiou, Stephanie; Chand, Prem; Kaiyrzhanov, Rauan; Bruselles, Alessandro; Cardaropoli, Simona; Tartaglia, Marco; De Rubeis, Silvia; Buxbaum, Joseph D; Smedley, Damian; Ferrero, Giovanni Battista; Giustetto, Maurizio; Gardoni, Fabrizio; Brusco, Alfredo
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
2023-01-01 Luca, Maria; Piglionica, Marilidia; Bagnulo, Rosanna; Cardaropoli, Simona; Carli, Diana; Turchiano, Antonella; Coppo, Paola; Pantaleo, Antonino; Iacoviello, Matteo; Ferrero, Giovanni Battista; Mussa, Alessandro; Resta, Nicoletta
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
2023-01-01 Melo, Uirá Souto; Jatzlau, Jerome; Prada-Medina, Cesar A; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schöpflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-García, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geißler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
2023-01-01 Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association
2023-01-01 Gazzin, Andrea; Leoni, Chiara; Viscogliosi, Germana; Borgini, Federica; Perri, Lucrezia; Iacoviello, Matteo; Piglionica, Marilidia; De Pellegrin, Maurizio; Ferrero, Giovanni Battista; Bartuli, Andrea; Zampino, Giuseppe; Buonuomo, Paola Sabrina; Resta, Nicoletta; Mussa, Alessandro
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
2023-01-01 Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D’Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
2023-01-01 Huth, Emily A; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N; Vogel, Ida; Dorf, Inger L H; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J; Louw, Jacoba J; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S; Rankin, Julia; Helvaty, Lindsey R; Landis, Benjamin J; Geddes, Gabrielle C; McBride, Kim L; Ware, Stephanie M; Shaw, Chad A; Lalani, Seema R; Rosenfeld, Jill A; Scott, Daryl A
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
2023-01-01 Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
2023-01-01 Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
2022-01-01 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
Epilepsy in a cohort of children with Noonan syndrome and related disorders
2022-01-01 Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
2022-01-01 Hardcastle, Amy; Berry, Aliska M; Campbell, Ian M; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E; Rosenfeld, Jill A; Sisoudiya, Saumya D; Hernandez-Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L; Capolino, Rossella; Digilio, Maria C; Graziani, Ludovico; Rustad, Cecilie F; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; Van Den Bogaert, Kris; Boogaerts, Anneleen; McMullan, Dominic J; Dean, John; Giuffrida, Maria G; Bernardini, Laura; Varghese, Vinod; Shannon, Nora L; Harrison, Rachel E; Lam, Wayne W K; McKee, Shane; Turnpenny, Peter D; Cole, Trevor; Morton, Jenny; Eason, Jacqueline; Jones, Marilyn C; Hall, Rebecca; Wright, Michael; Horridge, Karen; Shaw, Chad A; Chung, Wendy K; Scott, Daryl A
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
2022-01-01 Giuliana Giannuzzi; Nicolas Chatron; Katrin Mannik; Chiara Auwerx; Sylvain Pradervand; Gilles Willemin; Kendra Hoekzema; Xander Nuttle; Jacqueline Chrast; Marie C. Sadler; Eleonora Porcu; Nicolas Chatron; Katrin Männik; Damien Sanlaville; Caroline Schluth-Bolard; Cédric Le Caignec; Mathilde Nizon; Sandra Martin; Sébastien Jacquemont; Armand Bottani; Marion Gérard; Sacha Weber; Aurélia Jacquette; Catherine Vincent-Delorme; Aurora Currò; Francesca Mari; Alessandra Renieri; Alfredo Brusco; Giovanni Battista Ferrero; Yann Herault; Bertrand Isidor; Brigitte Gilbert-Dussardier; Evan E. Eichler; Zoltan Kutalik; Alexandre Reymond
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
2022-01-01 Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2022-01-01 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
2022-01-01 Carli, Diana; Resta, Nicoletta; Ferrero, Giovanni Battista; Ruggieri, Martino; Mussa, Alessandro
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors
2022-01-01 Alves, C A P F; Sherbini, O; D'Arco, F; Steel, D; Kurian, M A; Radio, F C; Ferrero, G B; Carli, D; Tartaglia, M; Balci, T B; Powell-Hamilton, N N; Schrier Vergano, S A; Reutter, H; Hoefele, J; Günthner, R; Roeder, E R; Littlejohn, R O; Lessel, D; Lüttgen, S; Kentros, C; Anyane-Yeboa, K; Catarino, C B; Mercimek-Andrews, S; Denecke, J; Lyons, M J; Klopstock, T; Bhoj, E J; Bryant, L; Vanderver, A
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies
2022-01-01 Mussa, Alessandro; Turchiano, Antonella; Cardaropoli, Simona; Coppo, Paola; Pantaleo, Antonino; Bagnulo, Rosanna; Ranieri, Carlotta; Iacoviello, Matteo; Garganese, Antonella; Stella, Alessandro; Vallero, Stefano Gabriele; Bertin, Daniele; Santoro, Federica; Carli, Diana; Ferrero, Giovanni Battista; Resta, Nicoletta
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease
2022-01-01 Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B.
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome
2022-01-01 Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome
2022-01-01 Davico, Chiara; Borgogno, Marta; Campagna, Filippa; D'Alessandro, Rossella; Ricci, Federica; Amianto, Federico; Mussa, Alessandro; Carli, Diana; Ferrero, Giovanni Battista; Vitiello, Benedetto
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism
2022-01-01 Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism
2021-01-01 Keller R.; Carli D.; Brighenti S.; Salerno L.; Biamino E.; Raino E.; Vitiello B.; Ferrero G.B.
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth
2021-01-01 Carli, Diana; De Pellegrin, Maurizio; Franceschi, Luisa; Zinali, Federica; Paonessa, Matteo; Spolaore, Simone; Cardaropoli, Simona; Cravino, Mattia; Marcucci, Lorenzo; Andreacchio, Antonio; Resta, Nicoletta; Ferrero, Giovanni Battista; Mussa, Alessandro
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review
2021-01-01 Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A.
Bowel loop sign in a newborn
2021-01-01 Garofalo, Salvatore; Guanà, Riccardo; Schleef, Jurgen; Cortese, Maria Grazia; Carli, Diana; Suteu, Liana; Ferrero, Giovanni Battista; Gennari, Fabrizio
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing
2021-01-01 Carli D.; Bertola C.; Cardaropoli S.; Ciuffreda V.P.; Pieretto M.; Ferrero G.B.; Mussa A.
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot
2021-01-01 Carli, Diana; Moroni, Alice; Eleonora, Di Gregorio; Zonta, Andrea; Montin, Davide; Licciardi, Francesco; Aidala, Enrico; Bordese, Roberto; Carlo, Pace Napoleone; Brusco, Alfredo; Giovanni Battista, Ferrero; Mussa, Alessandro
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question
2021-01-01 Quarello, Paola; Perotti, Daniela; Carli, Diana; Giorgio, Elisa; Sirchia, Fabio; Brusco, Alfredo; Ferrero, Giovanni Battista; Mussa, Alessandro; Spadea, Manuela; Ciceri, Sara; Spreafico, Filippo; Fagioli, Franca
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”
2021-01-01 Tuli G.; Munarin J.; Mussa A.; Carli D.; Gastaldi R.; Borgia P.; Vigone M.C.; Abbate M.; Ferrero G.B.; De Sanctis L.
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum
2021-01-01 Carli D.; Kalantari S.; Manicone R.; Coppo P.; Francia di Celle P.; La Selva R.; Santoro F.; Ranieri C.; Cardaropoli S.; Fagioli F.; Ferrero G.B.; Resta N.; Mussa A.
Mapping the human genetic architecture of COVID-19
2021-01-01 Niemi, Mari E. K.; Karjalainen, Juha; Liao, Rachel G.; Neale, Benjamin M.; Daly, Mark; Ganna, Andrea; Pathak, Gita A.; Andrews, Shea J.; Kanai, Masahiro; Veerapen, Kumar; Fernandez-Cadenas, Israel; Schulte, Eva C.; Striano, Pasquale; Marttila, Minttu; Minica, Camelia; Marouli, Eirini; Karim, Mohd Anisul; Wendt, Frank R.; Savage, Jeanne; Sloofman, Laura; Butler-Laporte, Guillaume; Kim, Han-Na; Kanoni, Stavroula; Okada, Yukinori; Byun, Jinyoung; Han, Younghun; Uddin, Mohammed Jashim; Smith, George Davey; Willer, Cristen J.; Buxbaum, Joseph D.; Mehtonen, Juha; Finucane, Hilary; Cordioli, Mattia; Martin, Alicia R.; Zhou, Wei; Pasaniuc, Bogdan; Julienne, Hanna; Aschard, Hugues; Shi, Huwenbo; Yengo, Loic; Polimanti, Renato; Ghoussaini, Maya; Schwartzentruber, Jeremy; Dunham, Ian; Chwialkowska, Karolina; Francescatto, Margherita; Trankiem, Amy; Balaconis, Mary K.; Davis, Lea; Lee, Sulggi; Priest, James; Renieri, Alessandra; Sankaran, Vijay G.; van Heel, David; Deelen, Patrick; Richards, J. Brent; Nakanishi, Tomoko; Biesecker, Les; Kerchberger, V. Eric; Baillie, J. Kenneth; Mari, Francesca; Bernasconi, Anna; Baillie, Stefano Ceri; Canakoglu, Arif; Wolford, Brooke; Faucon, Annika; Dutta, Atanu Kumar; Schurmann, Claudia; Harry, Emi; Birney, Ewan; Nguyen, Huy; Nasir, Jamal; Kaunisto, Mari; Solomonson, Matthew; Dueker, Nicole; Vadgama, Nirmal; Limou, Sophie; Rahmouni, Souad; Mbarek, Hamdi; Darwish, Dima; Uddin, Md Mesbah; Albertos, Raquel; Pérez-Tur, Jordi; Li, Ruolin; Folkersen, Lasse; Moltke, Ida; Koelling, Nils; Teumer, Alexander; Kousathanas, Athanasios; Utrilla, Alicia; Verdugo, Ricardo A.; Zárate, Ruth; Medina-Gómez, Carolina; Gómez-Cabrero, David; Carnero-Montoro, Elena; Cadilla, Carmen L.; Moreno-Estrada, Andrés; Garmendia, Adriana; Moya, Leire; Sedaghati-Khayat, Bahar; Boua, Palwendé Romuald; Favé, Marie-Julie; Francioli, Laurent; Lemaçon, Audrey; Migeotte, Isabelle; Patel, Sanjay; Varnai, Reka; Szentpeteri, Jozsef L.; Sipeky, Csilla; Colombo, Francesca; von Hohenstaufen, Kathrin; Lio, Pietro; Vallerga, Costanza; Wang, Qingbo; Tanigawa, Yosuke; Im, Hogune; Han, Chulho; Song, Han; Lim, Jiwoo; Lee, Younhe; Kim, Sugyeong; Im, Sangyoon; Atanasovska, Biljana; Ahmad, Hajar Fauzan; Boer, Cindy; Jansen, Philip; Franke, Lude; Kaja, Elżbieta; Pasko, Dorota; Kennis-Szilagyi, Ingrid; Kornilov, Sergey A.; Prijatelj, Vid; Prokić, Ivana; Sivanadhan, Ilangkumaran; Perumal, Sarala; Esmaeeli, Sahar; Pearson, Nathaniel M.; Auton, Adam; Shelton, Janie F.; Shastri, Anjali J.; Filshtein-Sonmez, Teresa; Coker, Daniella; Symons, Antony; Esparza-Gordillo, Jorge; Aslibekyan, Stella; O’Connell, Jared; Ye, Chelsea; Weldon, Catherine H.; Perera, Minoli; O’Leary, Kevin; Tuck, Matthew; O’Brien, Travis; Meltzer, David; O’Donnell, Peter; Nutescu, Edith; Yang, Guang; Alarcon, Cristina; Herrmann, Stefanie; Mazurek, Sophia; Banagan, Jeff; Hamidi, Zacharia; Barbour, April; Raffat, Noora; Moreno, Diana; Friedman, Paula; Ferwerda, Bart; van de Beek, Diederik; Brouwer, Matthijs C.; Vlaar, Alexander P. J.; Wiersinga, W. Joost; Posthuma, Danielle; Tissink, Elleke; Koos Zwinderman, A. H.; Uffelmann, Emil; van Agtmael, Michiel; Algera, Anne Geke; van Baarle, Frank; Bax, Diane; Beudel, Martijn; Jan Bogaard, Harm; Bomers, Marije; Bonta, Peter I.; Bos, Lieuwe; Botta, Michela; de Brabander, Justin; de Bree, Godelieve; de Bruin, Sanne; Bugiani, Marianna; Bulle, Esther; Chouchane, Osoul; Cloherty, Alex; Dongelmans, Dave; Elbers, Paul; Fleuren, Lucas; Geerlings, Suzanne; Geerts, Bart; Geijtenbeek, Theo; Girbes, Armand; Goorhuis, Bram; Grobusch, Martin P.; Hafkamp, Florianne; Hagens, Laura; Hamann, Jorg; Harris, Vanessa; Hemke, Robert; Hermans, Sabine M.; Heunks, Leo; Hollmann, Markus; Horn, Janneke; Hovius, Joppe W.; de Jong, Menno D.; Koning, Rutger; van Mourik, Niels; Nellen, Jeannine; Nossent, Esther J.; Paulus, Frederique; Peters, Edgar; van der Poll, Tom; Preckel, Bennedikt; Prins, Jan M.; Raasveld, Jorinde; Reijnders, Tom; Schinkel, Michiel; Schultz, Marcus J.; Schuurman, Alex; Sigaloff, Kim; Smit, Marry; Stijnis, Cornelis S.; Stilma, Willemke; Teunissen, Charlotte; Thoral, Patrick; Tsonas, Anissa; van der Valk, Marc; Veelo, Denise; de Vries, Heder; van Vugt, Michèle; Wouters, Dorien; Minnaar, René P.; Kromhout, Adrie; van Uffelen, Kees W. J.; Wolterman, Ruud A.; Roberts, Genevieve; Park, Danny; Ball, Catherine A.; Coignet, Marie; McCurdy, Shannon; Knight, Spencer; Partha, Raghavendran; Rhead, Brooke; Zhang, Miao; Berkowitz, Nathan; Gaddis, Michael; Noto, Keith; Ruiz, Luong; Pavlovic, Milos; Hong, Eurie L.; Rand, Kristin; Girshick, Ahna; Guturu, Harendra; Baltzell, Asher Haug; Rahmouni, Souad; Guntz, Julien; Beguin, Yves; Pigazzini, Sara; Nkambule, Lindokuhle; Bouysran, Youssef; Busson, Adeline; Peyrassol, Xavier; Wilkin, Françoise; Pichon, Bruno; Smits, Guillaume; Vandernoot, Isabelle; Goffard, Jean-Christophe; Georges, Michel; Moutschen, Michel; Misset, Benoit; Darcis, Gilles; Guiot, Julien; Jadot, Laurent; Azarzar, Samira; Dellot, Patricia; Gofflot, Stéphanie; Claassen, Sabine; Bertrand, Axelle; Parzibut, Gilles; Clarinval, Mathilde; Moermans, Catherine; Malaise, Olivier; El Kandoussi, Kamilia; Thonon, Raphaël; Huynen, Pascale; Mesdagh, Alyssia; Melo, Sofia; Jacques, Nicolas; Di Valentin, Emmanuel; Giroule, François; Collignon, Alice; Radermecker, Coraline; Lebrun, Marielle; Perée, Hélène; Latour, Samuel; Barada, Olivia; Sanchez, Judit; Josse, Claire; Boujemla, Bouchra; Meunier, Margot; Mariavelle, Emeline; Anania, Sandy; Gazon, Hélène; Juszczak, Danusia; Fadeur, Marjorie; Camby, Séverine; Meuris, Christelle; Thys, Marie; Jacques, Jessica; Henket, Monique; Léonard, Philippe; Frippiat, Frederic; Giot, Jean-Baptiste; Sauvage, Anne-Sophie; Von Frenckell, Christian; Mni, Myriam; Wéry, Marie; Staderoli, Alicia; Belhaj, Yasmine; Lambermont, Bernard; Morrison, David R.; Mooser, Vincent; Forgetta, Vincenzo; Li, Rui; Ghosh, Biswarup; Laurent, Laetitia; Belisle, Alexandre; Henry, Danielle; Abdullah, Tala; Adeleye, Olumide; Mamlouk, Noor; Kimchi, Nofar; Afrasiabi, Zaman; Rezk, Nardin; Vulesevic, Branka; Bouab, Meriem; Guzman, Charlotte; Petitjean, Louis; Tselios, Chris; Xue, Xiaoqing; Afilalo, Jonathan; Afilalo, Marc; Oliveira, Maureen; Brenner, Bluma; Brassard, Nathalie; Durand, Madeleine; Schurr, Erwin; Lepage, Pierre; Ragoussis, Jiannis; Auld, Daniel; Chassé, Michaël; Kaufmann, Daniel E.; Lathrop, G. Mark; Adra, Darin; Davis, Lea K.; Cox, Nancy J.; Below, Jennifer E.; Sealock, Julia M.; Faucon, Annika B.; Shuey, Megan M.; Polikowsky, Hannah G.; Petty, Lauren E.; Shaw, Douglas M.; Chen, Hung-Hsin; Zhu, Wanying; Ludwig, Kerstin U.; Schröder, Julia; Maj, Carlo; Rolker, Selina; Nöthen, Markus M.; Fazaal, Julia; Keitel, Verena; Jensen, Björn-Erik Ole; Feldt, Torsten; Kurth, Ingo; Marx, Nikolaus; Dreher, Michael; Pink, Isabell; Cornberg, Markus; Illig, Thomas; Lehmann, Clara; Schommers, Philipp; Augustin, Max; Rybniker, Jan; Knopp, Lisa; Eggermann, Thomas; Volland, Sonja; Altmüller, Janine; Berger, Marc M.; Brenner, Thorsten; Hinney, Anke; Witzke, Oliver; Bals, Robert; Herr, Christian; Ludwig, Nicole; Walter, Jörn; Fuchsberger, Christian; Pattaro, Cristian; De Grandi, Alessandro; Pramstaller, Peter; Emmert, David; Melotti, Roberto; Foco, Luisa; Mascalzoni, Deborah; Gögele, Martin; Domingues, Francisco; Hicks, Andrew; Gignoux, Christopher R.; Wicks, Stephen J.; Crooks, Kristy; Barnes, Kathleen C.; Daya, Michelle; Shortt, Jonathan; Rafaels, Nicholas; Chavan, Sameer; Goldstein, David B.; Kiryluk, Krzysztof; Sengupta, Soumitra; Chung, Wendy; Reilly, Muredach P.; Khan, Atlas; Wang, Chen; Povysil, Gundula; Bhardwaj, Nitin; Gharavi, Ali G.; Ionita-Laza, Iuliana; Shang, Ning; O’Byrne, Sheila M.; Nandakumar, Renu; Menon, Amritha; So, Yat S.; Hod, Eldad; Pendrick, Danielle; Kim, Han-Na; Park, Soo-Kyung; Kim, Hyung-Lae; Kang, Chang Kyung; Lee, Hyo-Jung; Song, Kyoung-Ho; Jae Yoon, Kyung; Paik, Nam-Jong; Seok, Woojin; Yoon, Heejun; Joo, Eun-Jeong; Chang, Yoosoo; Ryu, Seungho; Park, Wan Beom; Su Park, Jeong; Un Park, Kyoung; Ham, Sin Young; Jung, Jongtak; Kim, Eu Suk; Kim, Hong Bin; Ellinghaus, David; Degenhardt, Frauke; Cáceres, Mario; Juzenas, Simonas; Lenz, Tobias L.; Albillos, Agustín; Julià, Antonio; Heidecker, Bettina; Garcia, Federico; Kurth, Florian; Tran, Florian; Hanses, Frank; Zoller, Heinz; Holter, Jan C.; Fernández, Javier; Sander, Leif Erik; Rosenstiel, Philip; Koehler, Philipp; de Cid, Rafael; Asselta, Rosanna; Schreiber, Stefan; Hehr, Ute; Prati, Daniele; Baselli, Guido; Valenti, Luca; Bujanda, Luis; Banales, Jesus M.; Duga, Stefano; D’Amato, Mauro; Romero-Gómez, Manuel; Buti, Maria; Invernizzi, Pietro; Franke, Andre; Hov, Johannes R.; Karlsen, Tom H.; Folseraas, Trine; Maya-Miles, Douglas; Teles, Ana; Azuure, Clinton; Wacker, Eike Matthias; Uellendahl-Werth, Florian; ElAbd, Hesham; Arora, Jatin; Lerga-Jaso, Jon; Wienbrandt, Lars; Rühlemann, Malte Christoph; Wendorff, Mareike; Vadla, May Sissel; Lenning, Ole Bernt; Özer, Onur; Myhre, Ronny; Raychaudhuri, Soumya; Tanck, Anja; Gassner, Christoph; Hemmrich-Stanisak, Georg; Kässens, Jan; Figuera Basso, Maria E.; Schulzky, Martin; Wittig, Michael; Braun, Nicole; Wesse, Tanja; Albrecht, Wolfgang; Yi, Xiaoli; Ortiz, Aaron Blandino; Chercoles, Adolfo Garrido; Ruiz, Agustín; Mantovani, Alberto; Holten, Aleksander Rygh; Mayer, Alena; Cherubini, Alessandro; Protti, Alessandro; Aghemo, Alessio; Gerussi, Alessio; Ramirez, Alfredo; Braun, Alice; Barreira, Ana; Lleo, Ana; Kildal, Anders Benjamin; Glück, Andreas; Nolla, Anna Carreras; Latiano, Anna; Dyrhol-Riise, Anne Ma; Muscatello, Antonio; Voza, Antonio; Rando-Segura, Ariadna; Solier, Aurora; Karina, Banasik; Cortes, Beatriz; Mateos, Beatriz; Nafria-Jimenez, Beatriz; Schaefer, Benedikt; Bellinghausen, Carla; Ferrando, Carlos; Quereda, Carmen; Skurk, Carsten; Thibeault, Charlotte; Spinner, Christoph D.; Lange, Christoph; Hu, Cinzia; Cappadona, Claudio; Bianco, Cristiana; Sancho, Cristina; Lihaug Hoff, Dag Arne; Galimberti, Daniela; Jiménez, David; Pestaña, David; Toapanta, David; Azzolini, Elena; Scarpini, Elio; Helbig, Elisa T.; Urrechaga, Eloisa; Paraboschi, Elvezia Maria; Pontali, Emanuele; Reverter, Enric; Navas, Enrique; Arana, Eunate; Sánchez, Félix García; Ceriotti, Ferruccio; Malvestiti, Francesco; Mesonero, Francisco; Pezzoli, Gianni; Lamorte, Giuseppe; Neb, Holger; My, Ilaria; Hernández, Isabel; de Rojas, Itziar; Galván-Femenia, Iván; Heyckendorf, Jan; Rybniker, Jan; Badia, Joan Ramon; Schneider, Jochen; Goikoetxea, Josune; Kraft, Julia; Müller, Karl Erik; Gaede, Karoline I.; Garcia-Etxebarria, Koldo; Tonby, Kristian; Heggelund, Lars; Izquierdo-Sanchez, Laura; Sumoy, Lauro; Lippert, Lena J.; Terranova, Leonardo; Garbarino, Lucia; Téllez, Luis; Roade, Luisa; Ostadreza, Mahnoosh; Intxausti, Maider; Kogevinas, Manolis; Gutiérrez-Stampa, María A.; Vehreschild, Maria J. G. T.; Marquié, Marta; Castoldi, Massimo; Cecconi, Maurizio; Boada, Mercè; Seilmaier, Michael J.; Mazzocco, Michela; Rodríguez-Gandía, Miguel; Ayo, Natale Imaz; Blay, Natalia; Martínez, Nilda; Cornely, Oliver A.; Palmieri, Orazio; Tentorio, Paolo; Rodrigues, Pedro M.; España, Pedro P.; Hoffmann, Per; Bacher, Petra; Suwalski, Phillip; de Pablo, Raúl; Nieto, Rosa; Badalamenti, Salvatore; Ciesek, Sandra; Bombace, Sara; Wilfling, Sibylle; Brunak, Søren; Heilmann-Heimbach, Stefanie; Ripke, Stephan; Bahmer, Thomas; Landmesser, Ulf; Protzer, Ulrike; Rimoldi, Valeria; Skogen, Vegard; Andrade, Victor; Moreno, Victor; Poller, Wolfgang; Farre, Xavier; Wang, Xiaomin; Khodamoradi, Yascha; Karadeniz, Zehra; de Salazar, Adolfo; Palom, Adriana; Garcia-Fernandez, Alba-Estela; Blanco-Grau, Albert; Zanella, Alberto; Bandera, Alessandra; Nebel, Almut; Biondi, Andrea; Caballero-Garralda, Andrea; Gori, Andrea; Lind, Andreas; Fracanzani, Anna Ludovica; Peschuck, Anna; Pesenti, Antonio; de la Horra, Carmen; Milani, Chiara; Paccapelo, Cinzia; Angelini, Claudio; Cea, Cristina; Muñiz-Diaz, Eduardo; Sandoval, Elena; Calderón, Enrique J.; Solligård, Erik; Aziz, Fátima; Martinelli-Boneschi, Filippo; Peyvandi, Flora; Blasi, Francesco; Medrano, Francisco J.; Rodriguez-Frias, Francisco; Müller, Fredrik; Grasselli, Giacomo; Costantino, Giorgio; Cardamone, Giulia; Foti, Giuseppe; Matullo, Giuseppe; Kurihara, Hayato; Afset, Jan Egil; Damås, Jan Kristian; Ampuero, Javier; Martín, Javier; Erdmann, Jeanette; Bergan, Jonas; Goerg, Siegfried; Ferrusquía-Acosta, Jose; Quero, Jose Hernández; Delgado, Juan; Guerrero, Juan M.; Risnes, Kari; Bettini, Laura Rachele; Moreira, Leticia; Gustad, Lise Tuset; Santoro, Luigi; Scudeller, Luigia; Riveiro-Barciela, Mar; Schaefer, Marco; Carrabba, Maria; Valsecchi, Maria G.; Hernandez-Tejero, María; Acosta-Herrera, Marialbert; D’Angiò, Mariella; Baldini, Marina; Cazzaniga, Marina; Ciccarelli, Michele; Bocciolone, Monica; Miozzo, Monica; Chueca, Natalia; Montano, Nicola; Faverio, Paola; Preatoni, Paoletta; Bonfanti, Paolo; Omodei, Paolo; Castro, Pedro; Ferrer, Ricard; Gualtierotti, Roberta; Gallego-Durán, Rocío; Morilla, Rubén; Haider, Sammra; Marsal, Sara; Aneli, Serena; Pelusi, Serena; Bosari, Silvano; Aliberti, Stefano; Dudman, Susanne; Zheng, Tenghao; Pumarola, Tomas; Cejudo, Trinidad Gonzalez; Monzani, Valter; Friaza, Vicente; Peter, Wolfgang; Dopazo, Ximo; Duga, Stefano; May, Sandra; Grimsrud, Marit M.; Gudbjartsson, Daniel F.; Stefansson, Kari; Sulem, Patrick; Sveinbjornsson, Gardar; Melsted, Pall; Norddahl, Gudmundur; Swerford Moore, Kristjan Helgi; Thorsteinsdottir, Unnur; Holm, Hilma; Alarcón-Riquelme, Marta E.; Bernardo, David; Martínez-Bueno, Manuel; Rello, Silvia Rojo; Magi, Reedik; Milani, Lili; Metspalu, Andres; Laisk, Triin; Läll, Kristi; Lepamets, Maarja; Esko, Tõnu; Reimann, Ene; Naaber, Paul; Laane, Edward; Pesukova, Jaana; Peterson, Pärt; Kisand, Kai; Tabri, Jekaterina; Allos, Raili; Hensen, Kati; Starkopf, Joel; Ringmets, Inge; Tamm, Anu; Kallaste, Anne; Alavere, Helene; Metsalu, Kristjan; Puusepp, Mairo; Kristiansson, Kati; Koskelainen, Sami; Perola, Markus; Donner, Kati; Kivinen, Katja; Palotie, Aarno; Palotie, Aarno; Rivolta, Carlo; Bochud, Pierre-Yves; Bibert, Stéphanie; Boillat, Noémie; Nussle, Semira Gonseth; Albrich, Werner; Quinodoz, Mathieu; Kamdar, Dhryata; Suh, Noémie; Neofytos, Dionysios; Erard, Véronique; Voide, Cathy; Bochud, P. Y.; Rivolta, C.; Bibert, S.; Quinodoz, M.; Kamdar, D.; Neofytos, D.; Erard, V.; Voide, C.; Friolet, R.; Vollenweider, P.; Pagani, J. L.; Oddo, M.; zu Bentrup, F. Meyer; Conen, A.; Clerc, O.; Marchetti, O.; Guillet, A.; Guyat-Jacques, C.; Foucras, S.; Rime, M.; Chassot, J.; Jaquet, M.; Viollet, R. Merlet; Lannepoudenx, Y.; Portopena, L.; Desgranges, F.; Filippidis, P.; Guéry, B.; Haefliger, D.; Kampouri, E. E.; Manuel, O.; Munting, A.; Papadimitriou-Olivgeris, M.; Regina, J.; Rochat-Stettler, L.; Suttels, V.; Tadini, E.; Tschopp, J.; Van Singer, M.; Viala, B.; Boillat-Blanco, N.; Brahier, T.; Hügli, O.; Meuwly, J. Y.; Pantet, O.; Nussle, S. Gonseth; Bochud, M.; D’Acremont, V.; Younes, S. Estoppey; Albrich, W. C.; Suh, N.; Cerny, A.; O’Mahony, L.; von Mering, C.; Bochud, P. Y.; Frischknecht, M.; Kleger, G.-R.; Filipovic, M.; Kahlert, C. R.; Wozniak, H.; Negro, T. Rochat; Pugin, J.; Bouras, K.; Knapp, C.; Egger, T.; Perret, A.; Montillier, P.; di Bartolomeo, C.; Barda, B.; de Cid, Rafael; Carreras, Anna; Moreno, Victor; Galván-Femenía, Iván; Blay, Natalia; Farré, Xavier; Sumoy, Lauro; Cortés, Beatriz; Mercader, Josep Maria; Guindo-Martinez, Marta; Torrents, David; Garcia-Aymerich, Judith; Castaño-Vinyals, Gemma; Dobaño, Carlota; Gori, Marco; Renieri, Alessandra; Mondelli, Mario Umberto; Castelli, Francesco; Vaghi, Massimo; Rusconi, Stefano; Montagnani, Francesca; Bargagli, Elena; Franchi, Federico; Mazzei, Maria Antonietta; Cantarini, Luca; Tacconi, Danilo; Feri, Marco; Scala, Raffaele; Spargi, Genni; Nencioni, Cesira; Bandini, Maria; Caldarelli, Gian Piero; Spagnesi, Maurizio; Canaccini, Anna; Ognibene, Agostino; D’Arminio Monforte, Antonella; Girardis, Massimo; Antinori, Andrea; Francisci, Daniela; Schiaroli, Elisabetta; Scotton, Pier Giorgio; Panese, Sandro; Scaggiante, Renzo; Monica, Matteo Della; Capasso, Mario; Fiorentino, Giuseppe; Castori, Marco; Aucella, Filippo; Di Biagio, Antonio; Masucci, Luca; Valente, Serafina; Mandalà, Marco; Zucchi, Patrizia; Giannattasio, Ferdinando; Coviello, Domenico A.; Mussini, Cristina; Bosio, Giancarlo; Tavecchia, Luisa; Crotti, Lia; Rizzi, Marco; La Rovere, Maria Teresa; Sarzi-Braga, Simona; Bussotti, Maurizio; Ravaglia, Sabrina; Artuso, Rosangela; Perrella, Antonio; Romani, Davide; Bergomi, Paola; Catena, Emanuele; Vincenti, Antonella; Ferri, Claudio; Grassi, Davide; Pessina, Gloria; Tumbarello, Mario; Di Pietro, Massimo; Sabrina, Ravaglia; Luchi, Sauro; Barbieri, Chiara; Acquilini, Donatella; Andreucci, Elena; Paciosi, Francesco; Segala, Francesco Vladimiro; Tiseo, Giusy; Falcone, Marco; Lista, Mirjam; Poscente, Monica; De Vivo, Oreste; Petrocelli, Paola; Guarnaccia, Alessandra; Baroni, Silvia; Perticaroli, Valentina; Furini, Simone; Dei, Simona; Benetti, Elisa; Picchiotti, Nicola; Sanarico, Maurizio; Ceri, Stefano; Pinoli, Pietro; Raimondi, Francesco; Biscarini, Filippo; Stella, Alessandra; Bergomi, Mattia; Zguro, Kristina; Capitani, Katia; Tanfoni, Marco; Fallerini, Chiara; Daga, Sergio; Baldassarri, Margherita; Fava, Francesca; Frullanti, Elisa; Valentino, Floriana; Doddato, Gabriella; Giliberti, Annarita; Tita, Rossella; Amitrano, Sara; Bruttini, Mirella; Croci, Susanna; Meloni, Ilaria; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Pinto, Anna Maria; Beligni, Giada; Tommasi, Andrea; Di Sarno, Laura; Palmieri, Maria; Carriero, Miriam Lucia; Alaverdian, Diana; Iuso, Nicola; Inchingolo, Gabriele; Busani, Stefano; Bruno, Raffaele; Vecchia, Marco; Belli, Mary Ann; Mantovani, Stefania; Ludovisi, Serena; Quiros-Roldan, Eugenia; Antoni, Melania Degli; Zanella, Isabella; Siano, Matteo; Emiliozzi, Arianna; Fabbiani, Massimiliano; Rossetti, Barbara; Zanelli, Giacomo; Bergantini, Laura; D’Alessandro, Miriana; Cameli, Paolo; Bennet, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Guerrini, Susanna; Conticini, Edoardo; Frediani, Bruno; Spertilli, Chiara; Donati, Alice; Guidelli, Luca; Corridi, Marta; Croci, Leonardo; Piacentini, Paolo; Desanctis, Elena; Cappelli, Silvia; Verzuri, Agnese; Anemoli, Valentina; Pancrazi, Alessandro; Lorubbio, Maria; Merlini, Esther; Miraglia, Federica Gaia; Venturelli, Sophie; Cossarizza, Andrea; Vergori, Alessandra; Gabrieli, Arianna; Riva, Agostino; Paciosi, Francesco; Andretta, Francesca; Gatti, Francesca; Parisi, Saverio Giuseppe; Baratti, Stefano; Piscopo, Carmelo; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Carella, Massimo; Merla, Giuseppe; Squeo, Gabriella Maria; Raggi, Pamela; Marciano, Carmen; Perna, Rita; Bassetti, Matteo; Sanguinetti, Maurizio; Giorli, Alessia; Salerni, Lorenzo; Parravicini, Pierpaolo; Menatti, Elisabetta; Trotta, Tullio; Coiro, Gabriella; Lena, Fabio; Martinelli, Enrico; Mancarella, Sandro; Gabbi, Chiara; Maggiolo, Franco; Ripamonti, Diego; Bachetti, Tiziana; Suardi, Claudia; Parati, Gianfranco; Bottà, Giordano; Di Domenico, Paolo; Rancan, Ilaria; Bianchi, Francesco; Colombo, Riccardo; van Heel, David A.; Hunt, Karen A.; Trembath, Richard C.; Huang, Qin Qin; Martin, Hilary C.; Mason, Dan; Trivedi, Bhavi; Wright, John; Finer, Sarah; Griffiths, Christopher J.; Akhtar, Shaheen; Anwar, Mohammad; Arciero, Elena; Ashraf, Samina; Breen, Gerome; Chung, Raymond; Curtis, Charles J.; Chowdhury, Maharun; Colligan, Grainne; Deloukas, Panos; Durham, Ceri; Finer, Sarah; Griffiths, Chris; Huang, Qin Qin; Hurles, Matt; Hunt, Karen A.; Hussain, Shapna; Islam, Kamrul; Khan, Ahsan; Khan, Amara; Lavery, Cath; Lee, Sang Hyuck; Lerner, Robin; MacArthur, Daniel; MacLaughlin, Bev; Martin, Hilary; Mason, Dan; Miah, Shefa; Newman, Bill; Safa, Nishat; Tahmasebi, Farah; Trembath, Richard C.; Trivedi, Bhavi; van Heel, David A.; Wright, John; Smith, Albert V.; Boughton, Andrew P.; Li, Kevin W.; LeFaive, Jonathon; Annis, Aubrey; Jannes, Cinthia E.; Krieger, Jose E.; Pereira, Alexandre C.; Velho, Mariliza; Marques, Emanuelle; Lima, Isabella Ramos; Tada, Mauricio Teruo; Valino, Karina; McCarthy, Mark; Rosenberger, Carrie; Lee, Jong Eun; Chang, Diana; Hammer, Christian; Hunkapiller, Julie; Mahajan, Anubha; Pendergrass, Sarah; Sucheston-Campbell, Lara; Yaspan, Brian; Lee, Hyun Soo; Shin, Eunsoon; Jang, Hye Yoon; Kim, Sunmie; Kym, Sungmin; Kim, Yeon-Sook; Jeong, Hyeongseok; Kwon, Ki Tae; Kim, Shin-Woo; Kim, Jin Yong; Jang, Young Rock; Kim, Hyun ah; Lee, Ji Yeon; Lee, Jeong Eun; Lee, Shinwon; Choe, Kang-Won; Kang, Yu Min; Jee, Sun Ha; Jung, Keum Ji; Parikh, Victoria; Ashley, Euan; Wheeler, Matthew; Rivas, Manuel; Bustamante, Carlos; Pinksy, Benjamin; Febbo, Phillip; Farh, Kyle; Schroth, Gary P.; deSouza, Francis; Dalton, Karen; Christle, Jeff; Deboever, Christopher; Szalma, Sándor; Tanigawa, Yosuke; Rubinacci, Simone; Delaneau, Olivier; Gorzynski, John; de Jong, Hannah; Sutton, Shirley; Youlton, Nathan; Joshi, Ruchi; Jimenez-Morales, David; Hughes, Christopher; Amar, David; Ioannidis, Alex; Hershman, Steve; Kirillova, Anna; Seo, Kinya; Huang, Yong; Shoura, Massa; Hammond, Nathan; Watson, Nathaniel; Raja, Archana; Huang, ChunHong; Sahoo, Malaya; Wang, Hannah; Zhen, Jimmy; Rakitko, Alexander; Ilinsky, Valery; Yermakovich, Danat; Popov, Iaroslav; Chernitsov, Alexander; Kovalenko, Elena; Krasnenko, Anna; Plotnikov, Nikolay; Stetsenko, Ivan; Kim, Anna; Cirulli, Elizabeth T.; Schiabor Barrett, Kelly M.; Bolze, Alexandre; White, Simon; Washington, Nicole L.; Lu, James T.; Riffle, Stephen; Tanudjaja, Francisco; Wang, Xueqing; Ramirez, Jimmy M.; Leonetti, Nicole; Sandoval, Efren; Neveux, Iva; Dabe, Shaun; Grzymski, Joseph J.; Esteban Miñano, Juan Ignacio; Aguirre, Luis A.; López-Collazo, Eduardo; de la Mata Pazos, Manuel; Cerrato, Luciano; Folkersen, Lasse; Lozano-Rodríguez, Roberto; Avendaño-Ortiz, José; Arcos, Verónica Terrón; Montalbán-Hernández, Karla Marina; Quiroga, Jaime Valentín; Pascual-Iglesias, Alejandro; Maroun-Eid, Charbel; Martín-Quirós, Alejandro; Namkoong, Ho; Okada, Yukinori; Imoto, Seiya; Katayama, Kazuhiko; Fukunaga, Koichi; Kitagawa, Yuko; Sato, Toshiro; Hasegawa, Naoki; Kumanogoh, Atsushi; Kimura, Akinori; Ai, Masumi; Tokunaga, Katsushi; Kanai, Takanori; Miyano, Satoru; Ogawa, Seishi; Edahiro, Ryuya; Sonehara, Kyuto; Shirai, Yuya; Kanai, Masahiro; Ishii, Makoto; Kabata, Hiroki; Masaki, Katsunori; Kamata, Hirofumi; Ikemura, Shinnosuke; Chubachi, Shotaro; Okamori, Satoshi; Terai, Hideki; Tanaka, Hiromu; Morita, Atsuho; Lee, Ho; Asakura, Takanori; Sasaki, Junichi; Morisaki, Hiroshi; Uwamino, Yoshifumi; Nanki, Kosaku; Mikami, Yohei; Tomono, Kazunori; Kato, Kazuto; Matsuda, Fumihiko; Takahashi, Meiko; Hizawa, Nobuyuki; Takeda, Yoshito; Hirata, Haruhiko; Shiroyama, Takayuki; Miyawaki, Satoru; Suzuki, Ken; Maeda, Yuichi; Nii, Takuro; Noda, Yoshimi; Niitsu, Takayuki; Adachi, Yuichi; Enomoto, Takatoshi; Amiya, Saori; Hara, Reina; Takahashi, Kunihiko; Anzai, Tatsuhiko; Hasegawa, Takanori; Ito, Satoshi; Koike, Ryuji; Endo, Akifumi; Uchimura, Yuji; Miyazaki, Yasunari; Honda, Takayuki; Tateishi, Tomoya; Tohda, Shuji; Ichimura, Naoya; Sonobe, Kazunari; Sassa, Chihiro; Nakajima, Jun; Nannya, Yasuhito; Omae, Yosuke; Takahashi, Kazuhisa; Harada, Norihiro; Hiki, Makoto; Takagi, Haruhi; Nakamura, Ai; Tagaya, Etsuko; Kawana, Masatoshi; Arimura, Ken; Ishiguro, Takashi; Takayanagi, Noboru; Isono, Taisuke; Takaku, Yotaro; Takano, Kenji; Anan, Ryusuke; Nakajima, Yukiko; Nakano, Yasushi; Nishio, Kazumi; Ueda, Soichiro; Hayashi, Reina; Tateno, Hiroki; Hase, Isano; Yoshida, Shuichi; Suzuki, Shoji; Mitamura, Keiko; Saito, Fumitake; Ueda, Tetsuya; Azuma, Masanori; Nagasaki, Tadao; Yasui, Yoshinori; Hasegawa, Yoshinori; Mutoh, Yoshikazu; Yoshiyama, Takashi; Shoko, Tomohisa; Kojima, Mitsuaki; Adachi, Tomohiro; Ishikawa, Motonao; Takahashi, Kenichiro; Watanabe, Kazuyoshi; Manabe, Tadashi; Ito, Fumimaro; Fukui, Takahiro; Funatsu, Yohei; Koh, Hidefumi; Hirai, Yoshihiro; Kawashima, Hidetoshi; Narita, Atsuya; Niwa, Kazuki; Sekikawa, Yoshiyuki; Saito, Fukuki; Yoshiya, Kazuhisa; Yoshihara, Tomoyuki; Suzuki, Yusuke; Nakayama, Sohei; Masuzawa, Keita; Nishi, Koichi; Nishitsuji, Masaru; Tani, Maiko; Inoue, Takashi; Hirano, Toshiyuki; Kobayashi, Keigo; Miyazawa, Naoki; Kimura, Yasuhiro; Sado, Reiko; Ogura, Takashi; Kitamura, Hideya; Murohashi, Kota; Nakachi, Ichiro; Baba, Rie; Arai, Daisuke; Fuke, Satoshi; Saito, Hiroshi; Kuwahara, Naota; Fujiwara, Akiko; Okada, Takenori; Baba, Tomoya; Noda, Junya; Mashimo, Shuko; Yagi, Kazuma; Shiomi, Tetsuya; Hashiguchi, Mizuha; Odani, Toshio; Mochimaru, Takao; Oyamada, Yoshitaka; Mori, Nobuaki; Izumi, Namiki; Nagata, Kaoru; Taki, Reiko; Murakami, Koji; Yamada, Mitsuhiro; Sugiura, Hisatoshi; Hayashi, Kentaro; Shimizu, Tetsuo; Gon, Yasuhiro; Fujitani, Shigeki; Tsuchida, Tomoya; Yoshida, Toru; Kagaya, Takashi; Kita, Toshiyuki; Sakagami, Satoru; Kimizuka, Yoshifumi; Kawana, Akihiko; Nakamura, Yoshihiko; Ishikura, Hiroyasu; Takata, Tohru; Kikuchi, Takahide; Taniyama, Daisuke; Nakamura, Morio; Kodama, Nobuhiro; Kaneyama, Yasunari; Maeda, Shunsuke; Nagasaki, Yoji; Okamoto, Masaki; Ishihara, Sayoko; Ito, Akihiro; Chihara, Yusuke; Takeuchi, Mayumi; Onoi, Keisuke; Hashimoto, Naozumi; Wakahara, Keiko; Ando, Akira; Masuda, Makoto; Wakabayashi, Aya; Watanabe, Hiroki; Sageshima, Hisako; Nakada, Taka-Aki; Abe, Ryuzo; Shimada, Tadanaga; Kawamura, Kodai; Ichikado, Kazuya; Nishiyama, Kenta; Yamasaki, Masaki; Hashimoto, Satoru; Kusaka, Yu; Ohba, Takehiko; Isogai, Susumu; Takada, Minoru; Kanda, Hidenori; Komase, Yuko; Sano, Fumiaki; Asano, Koichiro; Oguma, Tsuyoshi; Harada, Masahiro; Takahashi, Takeshi; Shibusawa, Takayuki; Abe, Shinji; Kono, Yuta; Togashi, Yuki; Izumo, Takehiro; Inomata, Minoru; Awano, Nobuyasu; Ogawa, Shinichi; Ogata, Tomouki; Ishihara, Shoichiro; Kanehiro, Arihiko; Ozaki, Shinji; Fuchimoto, Yasuko; Kitagawa, Yuichiro; Yoshida, Shozo; Ogura, Shinji; Nishiyama, Kei; Yoshida, Kousuke; Beppu, Satoru; Fukuyama, Satoru; Eriguchi, Yoshihiro; Yonekawa, Akiko; Inoue, Yoshiaki; Yamagata, Kunihiro; Chiba, Shigeru; Narumoto, Osamu; Nagai, Hideaki; Ooshima, Nobuharu; Motegi, Mitsuru; Sagara, Hironori; Tanaka, Akihiko; Ohta, Shin; Shibata, Yoko; Tanino, Yoshinori; Sato, Yuki; Yamada, Yuichiro; Hashino, Takuya; Shinoki, Masato; Iwagoe, Hajime; Imamura, Tomonori; Umeda, Akira; Shimada, Hisato; Endo, Mayu; Hayashi, Shinichi; Takahashi, Mai; Nakano, Shigefumi; Yatomi, Masakiyo; Maeno, Toshitaka; Ishii, Tomoo; Utsugi, Mitsuyoshi; Ono, Akihiro; Kanaoka, Kensuke; Ihara, Shoichi; Komuta, Kiyoshi; Franke, Lude; Boezen, Marike; Claringbould, Annique; Lopera, Esteban; Warmerdam, Robert; Vonk, Judith. M.; van Blokland, Irene; Lanting, Pauline; Ori, Anil P. S.; Obeidat, Ma’en; Hernández Cordero, Ana I.; Sin, Don D.; Bossé, Yohan; Joubert, Philippe; Hao, Ke; Nickle, David; Timens, Wim; van den Berge, Maarten; Feng, Yen-Chen Anne; Mercader, Josep; Weiss, Scott T.; Karlson, Elizabeth W.; Smoller, Jordan W.; Murphy, Shawn N.; Meigs, James B.; Woolley, Ann E.; Green, Robert C.; Perez, Emma F.; Wolford, Brooke; Zöllner, Sebastian; Wang, Jiongming; Beck, Andrew; Sloofman, Laura G.; Ascolillo, Steven; Sebra, Robert P.; Collins, Brett L.; Levy, Tess; Sealfon, Stuart C.; Jordan, Daniel M.; Thompson, Ryan C.; Gettler, Kyle; Chaudhary, Kumardeep; Belbin, Gillian M.; Preuss, Michael; Hoggart, Clive; Choi, Sam; Underwood, Slayton J.; Salib, Irene; Britvan, Bari; Keller, Katherine; Tang, Lara; Peruggia, Michael; Hiester, Liam L.; Niblo, Kristi; Aksentijevich, Alexandra; Labkowsky, Alexander; Karp, Avromie; Zlatopolsky, Menachem; Zyndorf, Marissa; Charney, Alexander W.; Beckmann, Noam D.; Schadt, Eric E.; Abul-Husn, Noura S.; Cho, Judy H.; Itan, Yuval; Kenny, Eimear E.; Loos, Ruth J. F.; Nadkarni, Girish N.; Do, Ron; O’Reilly, Paul; Huckins, Laura M.; Ferreira, Manuel A. R.; Abecasis, Goncalo R.; Leader, Joseph B.; Cantor, Michael N.; Justice, Anne E.; Carey, Dave J.; Chittoor, Geetha; Josyula, Navya Shilpa; Kosmicki, Jack A.; Horowitz, Julie E.; Baras, Aris; Gass, Matthew C.; Yadav, Ashish; Mirshahi, Tooraj; Jan Hottenga, Jouke; Bartels, Meike; de Geus, Eco J. C.; Nivard, Michel G.; Verma, Anurag; Ritchie, Marylyn D.; Rader, Daniel; Li, Binglan; Verma, Shefali S.; Lucas, Anastasia; Bradford, Yuki; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Iacomino, Michele; Scudieri, Paolo; Bocciardi, Renata; Minetti, Carlo; Riva, Antonella; Vari, Maria Stella; Rahier, Jean-François; Giorgio, Elisa; Carli, Diana; Louis, Edouad; Bulik, Cynthia M.; Landén, Mikael; Brusco, Alfredo; Ferrero, Giovanni Battista; Madia, Francesca; Fundín, Bengt; Ismail, Said I.; Saad, Chadi; Al-Sarraj, Yaser; Badji, Radja Messai; Al-Muftah, Wadha; Al Thani, Asma; Afifi, Nahla; Klovins, Janis; Rovite, Vita; Rescenko, Raimonds; Peculis, Raitis; Ustinova, Monta; Zeberg, Hugo; Frithiof, Robert; Hultström, Michael; Lipcsey, Miklos; Johnson, Ruth; Geschwind, Daniel H.; Freimer, Nelson; Butte, Manish J.; Geschwind, Daniel H.; Pasaniuc, Bogdan; Ding, Yi; Chiu, Alec; Chang, Timothy S.; Boutros, Paul; Moutsianas, Loukas; Caulfield, Mark J.; Scott, Richard H.; Walker, Susan; Stuckey, Alex; Odhams, Christopher A.; Rhodes, Daniel; Fowler, Tom; Rendon, Augusto; Chan, Georgia; Arumugam, Prabhu; Karczewski, Konrad J.; Wilson, Daniel J.; Spencer, Chris A.; Crook, Derrick W.; Wyllie, David H.; O’Connell, Anne Marie; Atkinson, Elizabeth G.; Kanai, Masahiro; Tsuo, Kristin; Baya, Nikolas; Turley, Patrick; Gupta, Rahul; Walters, Raymond K.; Palmer, Duncan S.; Sarma, Gopal; Solomonson, Matthew; Cheng, Nathan; Lu, Wenhan; Churchhouse, Claire; Goldstein, Jacqueline I.; King, Daniel; Seed, Cotton; Daly, Mark J.; Neale, Benjamin M.; Bryant, Sam; Satterstrom, F. Kyle; Band, Gavin; Earle, Sarah G.; Lin, Shang-Kuan; Arning, Nicolas; Armstrong, Jacob; Rudkin, Justine K.; Callier, Shawneequa; Bryant, Sam; Cusick, Caroline; Soranzo, Nicole; Zhao, Jing Hua; Danesh, John; Di Angelantonio, Emanuele; Butterworth, Adam S.; Sun, Yan V.; Huffman, Jennifer E.; Cho, Kelly; O’Donnell, Christopher J.; Tsao, Phil; Gaziano, J. Michael; Peloso, Gina; Ho, Yuk-Lam; Mian, Michael; Scaggiante, Federica; Chang, Xiao; Glessner, Joseph R.; Hakonarson, Hakon; McGuigan, Peter J.; Prockter Moore, Luke Stephen; Vizcaychipi, Marcela Paola; Hall, Kathryn; Campbell, Andy; Nichol, Ailstair; Ward, Geraldine; Page, Valerie Joan; Semple, Malcolm G.; Adeniji, Kayode; Agranoff, Daniel; Agwuh, Ken; Ail, Dhiraj; Aldera, Erin L.; Alegria, Ana; Angus, Brian; Ashish, Abdul; Atkinson, Dougal; Bari, Shahedal; Barlow, Gavin; Barnass, Stella; Barrett, Nicholas; Bassford, Christopher; Basude, Sneha; Baxter, David; Beadsworth, Michael; Bernatoniene, Jolanta; Berridge, John; Best, Nicola; Bothma, Pieter; Chadwick, David; Brittain-Long, Robin; Bulteel, Naomi; Burden, Tom; Burtenshaw, Andrew; Caruth, Vikki; Chambler, Duncan; Chee, Nigel; Child, Jenny; Chukkambotla, Srikanth; Clark, Tom; Collini, Paul; Cosgrove, Catherine; Cupitt, Jason; Cutino-Moguel, Maria-Teresa; Dark, Paul; Dawson, Chris; Dervisevic, Samir; Donnison, Phil; Douthwaite, Sam; Drummond, Andrew; DuRand, Ingrid; Dushianthan, Ahilanadan; Dyer, Tristan; Evans, Cariad; Eziefula, Chi; Fegan, Christopher; Finn, Adam; Fullerton, Duncan; Garg, Sanjeev; Garg, Atul; Gkrania-Klotsas, Effrossyni; Godden, Jo; Goldsmith, Arthur; Graham, Clive; Hardy, Elaine; Hartshorn, Stuart; Harvey, Daniel; Havalda, Peter; Hawcutt, Daniel B.; Hobrok, Maria; Hodgson, Luke; Hormis, Anil; Jacobs, Michael; Jain, Susan; Jennings, Paul; Kaliappan, Agilan; Kasipandian, Vidya; Kegg, Stephen; Kelsey, Michael; Kendall, Jason; Kerrison, Caroline; Kerslake, Ian; Koch, Oliver; Koduri, Gouri; Koshy, George; Laha, Shondipon; Laird, Steven; Larkin, Susan; Leiner, Tamas; Lillie, Patrick; Limb, James; Linnett, Vanessa; Little, Jeff; Lyttle, Mark; MacMahon, Michael; MacNaughton, Emily; Mankregod, Ravish; Masson, Huw; Matovu, Elijah; McCullough, Katherine; McEwen, Ruth; Meda, Manjula; Mills, Gary H.; Minton, Jane; Ward, Karl; Mirfenderesky, Mariyam; Mohandas, Kavya; Mok, Quen; Moon, James; Moore, Elinoor; Morgan, Patrick; Morris, Craig; Mortimore, Katherine; Moses, Samuel; Mpenge, Mbiye; Mulla, Rohinton; Murphy, Michael; Nagel, Megan; Nagarajan, Thapas; Nelson, Mark; O’Shea, Matthew K.; Otahal, Igor; Ostermann, Marlies; Pais, Mark; Panchatsharam, Selva; Papakonstantinou, Danai; Paraiso, Hassan; Patel, Brij; Pattison, Natalie; Pepperell, Justin; Peters, Mark; Phull, Mandeep; Pintus, Stefania; Pooni, Jagtur Singh; Post, Frank; Price, David; Prout, Rachel; Rae, Nikolas; Reschreiter, Henrik; Reynolds, Tim; Richardson, Neil; Roberts, Mark; Roberts, Devender; Rose, Alistair; Rousseau, Guy; Ryan, Brendan; Saluja, Taranprit; Shah, Aarti; Shanmuga, Prad; Sharma, Anil; Shawcross, Anna; Sizer, Jeremy; Shankar-Hari, Manu; Smith, Richard; Snelson, Catherine; Spittle, Nick; Staines, Nikki; Stambach, Tom; Stewart, Richard; Subudhi, Pradeep; Szakmany, Tamas; Tatham, Kate; Thomas, Jo; Thompson, Chris; Thompson, Robert; Tridente, Ascanio; Tupper-Carey, Darell; Twagira, Mary; Ustianowski, Andrew; Vallotton, Nick; Vincent-Smith, Lisa; Visuvanathan, Shico; Vuylsteke, Alan; Waddy, Sam; Wake, Rachel; Walden, Andrew; Welters, Ingeborg; Whitehouse, Tony; Whittaker, Paul; Whittington, Ashley; Papineni, Padmasayee; Wijesinghe, Meme; Williams, Martin; Wilson, Lawrence; Cole, Sarah; Winchester, Stephen; Wiselka, Martin; Wolverson, Adam; Wooton, Daniel G.; Workman, Andrew; Yates, Bryan; Young, Peter; Beale, Rupert; Bretherick, Andrew D.; Clohisey, Sara; Fourman, Max Head; Furniss, James; Gountouna, Elvina; Grimes, Graeme; Haley, Chris; Harrison, David; Hayward, Caroline; Keating, Sean; Klaric, Lucija; Klenerman, Paul; Law, Andy; Meynert, Alison M.; Millar, Jonathan; Pairo-Castineira, Erola; Parkinson, Nicholas; Ponting, Chris P.; Porteous, David J.; Rawlik, Konrad; Richmond, Anne; Rowan, Kathy; Russell, Clark D.; Scott, Richard H.; Shen, Xia; Shih, Barbara; Tenesa, Albert; Vitart, Veronique; Wang, Bo; Wilson, James F.; Wu, Yang; Yang, Jian; Yang, Zhijian; Zechner, Marie; Zhai, Ranran; Zheng, Chenqing; Norman, Lisa; Pius, Riinu; Drake, Thomas M.; Fairfield, Cameron J.; Knight, Stephen R.; Mclean, Kenneth A.; Murphy, Derek; Shaw, Catherine A.; Dalton, Jo; Girvan, Michelle; Saviciute, Egle; Roberts, Stephanie; Harrison, Janet; Marsh, Laura; Connor, Marie; Halpin, Sophie; Jackson, Clare; Gamble, Carrol; Leeming, Gary; Law, Andrew; Wham, Murray; Hendry, Ross; Scott-Brown, James; Begg, Colin; Hinds, Charles; Wai Ho, Antonia Ying; Horby, Peter W.; Knight, Julian; Ling, Lowell; Maslove, David; McAuley, Danny; Montgomery, Hugh; Nichol, Alistair; Openshaw, Peter J. M.; Semple, Malcolm G.; Shankar-Hari, Manu; Summers, Charlotte; Walsh, Timothy; Armstrong, Lisa; Bates, Hayley; Dooks, Emma; Farquhar, Fiona; Hairsine, Brigid; McParland, C.; Packham, Sophie; Alldis, Zoe; Astin-Chamberlain, Raine; Bibi, Fatima; Biddle, Jack; Blow, Sarah; Bolton, Matthew; Borra, Catherine; Bowles, Ruth; Burton, Maudrian; Choudhury, Yasmin; Collier, David; Cox, Amber; Easthope, Amy; Ebano, Patrizia; Fotiadis, Stavros; Gurasashvili, Jana; Halls, Rosslyn; Hartridge, Pippa; Kallon, Delordson; Kassam, Jamila; Lancoma-Malcolm, Ivone; Matharu, Maninderpal; May, Peter; Mitchelmore, Oliver; Newman, Tabitha; Patel, Mital; Pheby, Jane; Pinzuti, Irene; Prime, Zoe; Prysyazhna, Oleksandra; Shiel, Julian; Taylor, Melanie; Tierney, Carey; Wood, Suzanne; Zak, Anne; Zongo, Olivier; Forsey, Miranda; Kaliappan, Agilan; Nicholson, Anne; Riches, Joanne; Vertue, Mark; Wasson, Christopher; Finn, Stephanie; Green, Jackie; Collins, Erin; King, Bernadette; Grauslyte, Lina; Hussain, Musarat; Phull, Mandeep; Pogreban, Tatiana; Rosaroso, Lace; Salciute, Erika; Franke, George; Wong, Joanna; George, Aparna; Akeroyd, Louise; Bano, Shereen; Bromley, Matt; Gurr, Lucy; Lawton, Tom; Morgan, James; Sellick, Kirsten; Warren, Deborah; Wilkinson, Brian; McGowan, Janet; Ledgard, Camilla; Stacey, Amelia; Pye, Kate; Bellwood, Ruth; Bentley, Michael; Hobrok, Maria; Loosley, Ronda; McGuinness, Heather; Tench, Helen; Wolf-Roberts, Rebecca; Gibson, Sian; Lyle, Amanda; McNeela, Fiona; Radhakrishnan, Jayachandran; Hughes, Alistair; Ali, Asifa; Brady, Megan; Dale, Sam; Dance, Annalisa; Gledhill, Lisa; Greig, Jill; Hanson, Kathryn; Holdroyd, Kelly; Home, Marie; Kelly, Diane; Kitson, Ross; Matapure, Lear; Melia, Deborah; Mellor, Samantha; Nortcliffe, Tonicha; Pinnell, Jez; Robinson, Matthew; Shaw, Lisa; Shaw, Ryan; Thomis, Lesley; Wilson, Alison; Wood, Tracy; Bayo, Lee-Ann; Merwaha, Ekta; Ishaq, Tahira; Hanley, Sarah; Antcliffe, David; Banach, Dorota; Brett, Stephen; Coghlan, Phoebe; Fernandez, Ziortza; Gordon, Anthony; Rojo, Roceld; Arias, Sonia Sousa; Templeton, Maie; Jha, Rajeev; Krishnamurthy, Vinodh; Lim, Lai; Bi, Rehana; Scholefield, Barney; Ashton, Lydia; Williams, Alison; Cheyne, Claire; Saunderson, Anne; Allan, Angela; Anderson, Felicity; Kaye, Callum; Liew, Jade; Medhora, Jasmine; Scott, Teresa; Trumper, Erin; Botello, Adriana; Polgarova, Petra; Stroud, Katerina; Meaney, Eoghan; Jones, Megan; Ng, Anthony; Agrawal, Shruti; Pathan, Nazima; White, Deborah; Daubney, Esther; Elston, Kay; Parker, Robert; Reddy, Amie; Turner-Bone, Ian; Wilding, Laura; Harding, Peter; Jacob, Reni; Jones, Cathy; Denmade, Craig; Croft, Maria; White, Ian; Lim, Li; Griffin, Denise; Muchenje, Nycola; Mupudzi, Mcdonald; Partridge, Richard; Conyngham, Jo-Anna; Thomas, Rachel; Wright, Mary; Corral, Maria Alvarez; Bastion, Victoria; Clarke, Daphene; David, Beena; Kent, Harriet; Lorusso, Rachel; Lubimbi, Gamu; Murdoch, Sophie; Penacerrada, Melchizedek; Thomas, Alastair; Valentine, Jennifer; Vochin, Ana; Wulandari, Retno; Djeugam, Brice; Dawson, Joy; Garrioch, Sweyn; Tolson, Melanie; Aldridge, Jonathan; de Almeida Martins, Laura Gomes; Carungcong, Jaime; Beavis, Sarah; Dale, Katie; Gascoyne, Rachel; Hawes, Joanne; Pritchard, Kelly; Stevenson, Lesley; Whileman, Amanda; Cowley, Anne; Highgate, Judith; Crawley, Rikki; Crew, Abigail; Cunningham, Mishell; Daniels, Allison; Harrison, Laura; Hope, Susan; Inweregbu, Ken; Jones, Sian; Lancaster, Nicola; Matthews, Jamie; Nicholson, Alice; Wray, Gemma; Benham, Leonie; Bradshaw, Zena; Brown, Joanna; Caswell, Melanie; Cupitt, Jason; Melling, Sarah; Preston, Stephen; Slawson, Nicola; Stoddard, Emma; Warden, Scott; Combes, Edward; Joefield, Teishel; Monnery, Sonja; Beech, Valerie; Trotman, Sallyanne; Hopkins, Bridget; Scriven, James; Thrasyvoulou, Laura; Willis, Heather; Anderson, Susan; Birch, Janine; Collins, Emma; Hammerton, Kate; O’Leary, Ryan; Abernathy, Caroline; Foster, Louise; Gratrix, Andrew; Martinson, Vicky; Parkinson, Priyai; Stones, Elizabeth; Carbral-Ortega, Llucia; Kapoor, Ritoo; Loader, David; Castle, Karen; Brandwood, Craig; Smith, Lara; Clark, Richard; Birchall, Katie; Kolakaluri, Laurel; Baines, Deborah; Sukumaran, Anila; Mapfunde, Isheunesu; Meredith, Megan; Morris, Lucy; Ryan, Lucy; Clark, Amy; Sampson, Julia; Peters, Cecilia; Dent, Martin; Langley, Margaret; Ashraf, Saima; Wei, Shuying; Andrew, Angela; Chablani, Manish; Kirkby, Amy; Netherton, Kimberley; Bates, Michelle; Dasgin, Jo; Gill, Jaspret; Nilsson, Annette; Scriven, James; Apetri, Elena; Basikolo, Cathrine; Blackledge, Bethan; Catlow, Laura; Charles, Bethan; Dark, Paul; Doonan, Reece; Harris, Jade; Harvey, Alice; Horner, Daniel; Knowles, Karen; Lee, Stephanie; Lomas, Diane; Lyons, Chloe; Marsden, Tracy; McLaughlan, Danielle; McMorrow, Liam; Pendlebury, Jessica; Perez, Jane; Poulaka, Maria; Proudfoot, Nicola; Slaughter, Melanie; Slevin, Kathryn; Taylor, Melanie; Thomas, Vicky; Walker, Danielle; Michael, Angiy; Collis, Matthew; Clark, Martyn; Coulding, Martina; Jude, Edward; McCormick, Jacqueline; Mercer, Oliver; Potla, Darsh; Rehman, Hafiz; Savill, Heather; Turner, Victoria; Davey, Miriam; Golden, David; Seaman, Rebecca; Hunt, Jodie; Dearden, Joy; Dobson, Emma; Mulcahy, Michelle; Munt, Sheila; O’Connor, Grainne; Philbin, Jennifer; Rishton, Chloe; Tully, Redmond; Winnard, Sarah; Cagova, Lenka; Fofano, Adama; Garner, Lucie; Holcombe, Helen; Mepham, Sue; Mitchell, Alice Michael; Mwaura, Lucy; Praman, K.; Vuylsteke, Alain; Zamikula, Julie; Bercades, Georgia; Brealey, David; Hass, Ingrid; MacCallum, Niall; Martir, Gladys; Raith, Eamon; Reyes, Anna; Smyth, Deborah; Taylor, Abigail; Hughes, Rachel Anne; Thomas, Helen; Rees, Alun; Duskova, Michaela; Phipps, Janet; Brooks, Suzanne; Edwards, Michelle; Alexander, Peter; Allen, Schvearn; Bradley-Potts, Joanne; Brantwood, Craig; Egan, Jasmine; Felton, Timothy; Padden, Grace; Ward, Luke; Moss, Stuart; Glasgow, Susannah; Beesley, Kate; Board, Sarah; Kubisz-Pudelko, Agnieszka; Lewis, Alison; Perry, Jess; Pippard, Lucy; Wood, Di; Buckley, Clare; Brown, Alison; Gregory, Jane; O’Connell, Susan; Smith, Tim; Belagodu, Zakaula; Fuller, Bridget; Gherman, Anca; Olufuwa, Olumide; Paramsothy, Remi; Stuart, Carmel; Oakley, Naomi; Kamundi, Charlotte; Tyl, David; Collins, Katy; Silva, Pedro; Taylor, June; King, Laura; Coates, Charlotte; Crowley, Maria; Wakefield, Phillipa; Beadle, Jane; Johnson, Laura; Sargeant, Janet; Anderson, Madeleine; Jardine, Catherine; Williams, Dewi; Parris, Victoria; Quaid, Sheena; Watson, Ekaterina; Melville, Julie; Naisbitt, Jay; Joseph, Rosane; Lazo, Maria; Walton, Olivia; Neal, Alan; Hill, Michaela; Kannan, Thogulava; Wild, Laura; Allan, Elizabeth; Darlington, Kate; Davies, Ffyon; Easton, Jack; Kumar, Sumit; Lean, Richard; Menzies, Daniel; Pugh, Richard; Qiu, Xinyi; Davies, Llinos; Williams, Hannah; Scanlon, Jeremy; Davies, Gwyneth; Mackay, Callum; Lewis, Joannne; Rees, Stephanie; Coetzee, Samantha; Gales, Alistair; Otahal, Igor; Raj, Meena; Sell, Craig; Langton, Helen; Prout, Rachel; Watters, Malcolm; Novis, Catherine; Arbane, Gill; Bociek, Aneta; Campos, Sara; Grau, Neus; Jones, Tim Owen; Lim, Rosario; Marotti, Martina; Ostermann, Marlies; Shankar-Hari, Manu; Whitton, Christopher; Barron, Anthony; Collins, Ciara; Kaul, Sundeep; Passmore, Heather; Prendergast, Claire; Reed, Anna; Rogers, Paula; Shokkar, Rajvinder; Woodruff, Meriel; Middleton, Hayley; Polgar, Oliver; Nolan, Claire; Thwaites, Vicky; Mahay, Kanta; Sri-Chandana, Chunda; Scherewode, Joslan; Stephenson, Lorraine; Marsh, Sarah; Bancroft, Hollie; Bellamy, Mary; Carmody, Margaret; Daglish, Jacqueline; Moore, Faye; Rhodes, Joanne; Sangombe, Mirriam; Kadiri, Salma; Scriven, James; Ayers, Amanda; Harrison, Wendy; North, Julie; Cavazza, Anna; Cockrell, Maeve; Corcoran, Eleanor; Depante, Maria; Finney, Clare; Jerome, Ellen; McPhail, Mark; Nayak, Monalisa; Noble, Harriet; O’Reilly, Kevin; Pappa, Evita; Saha, Rohit; Saha, Sian; Smith, John; Knighton, Abigail; Gill, Mandy; Paul, Paul; Ratnam, Valli; Shelton, Sarah; Wynter, Inez; Baptista, David; Crowe, Rebecca; Fernandes, Rita; Herdman-Grant, Rosaleen; Joseph, Anna; Loveridge, Adam; McKenley, India; Morino, Eriko; Naranjo, Andres; Simms, Richard; Sollesta, Kathryn; Swain, Andrew; Venkatesh, Harish; Khera, Jacyntha; Fox, Jonathan; Barber, Russell; Hewitt, Claire; Hilldrith, Annette; Jackson-Lawrence, Karen; Shepardson, Sarah; Wills, Maryanne; Butler, Susan; Tavares, Silvia; Cunningham, Amy; Hindale, Julia; Arif, Sarwat; George, Linsha; Twiss, Sophie; Wright, David; Holland, Maureen; Keenan, Natalie; Lyons, Marc; Wassall, Helen; Marsh, Chris; Mahenthran, Mervin; Carter, Emma; Kong, Thomas; Adanini, Oluronke; Bhatia, Nikhil; Msiska, Maines; Mew, Louise; Mwaura, Esther; Stewart, Richard; Williams, Felicity; Wren, Lynn; Sutherland, Sara-Beth; Battle, Ceri; Brinkworth, Elaine; Harford, Rachel; Murphy, Carl; Newey, Luke; Rees, Tabitha; Williams, Marie; Arnold, Sophie; Brealey, David; Hardy, John; Houlden, Henry; Moncur, Eleanor; Raith, Eamon; Tariq, Ambreen; Tucci, Arianna; Convery, Karen; Fottrell-Gould, Deirdre; Hudig, Lisa; Keshet-Price, Jocelyn; Randell, Georgina; Stammers, Katie; Abdelrazik, Marwa; Bakthavatsalam, Dhanalakshmi; Elhassan, Munzir; Ganesan, Arunkumar; Haldeos, Anne; Moreno-Cuesta, Jeronimo; Purohit, Dharam; Vincent, Rachel; Xavier, Kugan; Rohit, Kumar; Alasdair, Frater; Saleem, Malik; David, Carter; Jenkins, Samuel; Lamond, Zoe; Wall, Alanna; Yates, Bryan; Reynolds, Jessica; Campbell, Helen; Thompsom, Maria; Dodds, Steve; Duffy, Stacey; Butcher, Deborah; O’Sullivan, Susie; Butterworth-Cowin, Nicola; Deacon, Bethan; Hibbert, Meg; Pothecary, Carla; Tetla, Dariusz; Woodford, Christopher; Durga, Latha; Kennard-Holden, Gareth; de Gordoa, Laura Ortiz-Ruiz; Peasgood, Emily; Phillips, Claire; Skinner, Denise; Gaylard, Jane; Mullan, Dee; Newman, Julie; Davies, Ellie; Roche, Lisa; Sathe, Sonia; Brimfield, Lutece; Daly, Zoe; Pogson, David; Rose, Steve; Collins, Amy; Khaliq, Waqas; Gude, Estefania Treus; Allen, Louise; Beranova, Eva; Crisp, Nikki; Deery, Joanne; Hazelton, Tracy; Knight, Alicia; Price, Carly; Tilbey, Sorrell; Turki, Salah; Turney, Sharon; Giles, Julian; Booth, Simon; Bell, Gillian; English, Katy; Katary, Amro; Wilcox, Louise; Campbell, Rachael; Clarke, Noreen; Whiteside, Jonathan; Mascarenhas, Mairi; Donaldson, Avril; Matheson, Joanna; Barrett, Fiona; O’Hara, Marianne; O’Keefe, Laura; Bradley, Clare; Collier, Dawn; Hormis, Anil; Walker, Rachel; Maynard, Victoria; Patel, Tahera; Smith, Matthew; Chukkambotla, Srikanth; Kazi, Aayesha; Hartley, Janice; Dykes, Joseph; Hijazi, Muhammad; Keith, Sarah; Khan, Meherunnisa; Ryan-Smith, Janet; Springle, Philippa; Thomas, Jacqueline; Truman, Nick; Saad, Samuel; Coleman, Dabheoc; Fine, Christopher; Matt, Roseanna; Gay, Bethan; Dalziel, Jack; Ali, Syamlan; Goodchild, Drew; Harling, Rhiannan; Bhatterjee, Ravi; Goddard, Wendy; Davison, Chloe; Duberly, Stephen; Hargreaves, Jeanette; Bolton, Rachel; Laha, Shondipon; Verlander, Mark; Williams, Alexandra; Blackman, Helen; Creagh-Brown, Ben; Donlon, Sinead; Michalak-Glinska, Natalia; Mtuwa, Sheila; Pristopan, Veronika; Salberg, Armorel; Smith, Eleanor; Stone, Sarah; Piercy, Charles; Verula, Jerik; Burda, Dorota; Montaser, Rugia; Harden, Lesley; Mayangao, Irving; Marriott, Cheryl; Bradley, Paul; Harris, Celia; Cooper, Joshua; Finch, Cheryl; Liderth, Sarah; Quinn, Alison; Waddington, Natalia; Fidler, Katy; Tagliavini, Emma; Donnelly, Kevin; Abel, Lynn; Brett, Michael; Digby, Brian; Gemmell, Lisa; Hornsby, James; MacGoey, Patrick; O’Neil, Pauline; Price, Richard; Rodden, Natalie; Rooney, Kevin; Sundaram, Radha; Thomson, Nicola; Flanagan, Rebecca; Hughes, Gareth; Latham, Scott; McKenna, Emma; Anderson, Jennifer; Hull, Robert; Rhead, Kat; Branney, Debbie; Frankham, Jordan; Pitts, Sally; White, Nigel; Cristiano, Daniele; Dormand, Natalie; Farzad, Zohreh; Gummadi, Mahitha; Liyanage, Kamal; Patel, Brijesh V.; Salmi, Sara; Sloane, Geraldine; Thwaites, Vicky; Varghese, Mathew; Zborowski, Anelise C.; Bean, Sarah; Burt, Karen; Spivey, Michael; Eastgate-Jackson, Christine; Filipe, Helder; Martin, Daniel; Maharajh, Amitaa; Garcia, Sara Mingo; De Neef, Mark; Deacon, Bethan; Lynch, Ceri; Pothecary, Carla; Roche, Lisa; Howe, Gwenllian Sera; Singh, Jayaprakash; Turner, Keri; Ellis, Hannah; Stroud, Natalie; Cherian, Shiney; Cutler, Sean; Heron, Anne Emma; Roynon-Reed, Anna; Szakmany, Tamas; Williams, Gemma; Richards, Owen; Cheema, Yusuf; Ahmad, Norfaizan; Barker, Joann; Bauchmuller, Kris; Bird, Sarah; Cawthron, Kay; Harrington, Kate; Jackson, Yvonne; Kibutu, Faith; Lenagh, Becky; Masuko, Shamiso; Mills, Gary H.; Raithatha, Ajay; Wiles, Matthew; Willson, Jayne; Newell, Helen; Lye, Alison; Nwafor, Lorenza; Jarman, Claire; Rowland-Jones, Sarah; Foote, David; Cole, Joby; Thompson, Roger; Watson, James; Hesseldon, Lisa; Macharia, Irene; Chetam, Luke; Smith, Jacqui; Ford, Amber; Anderson, Samantha; Birchall, Kathryn; Housley, Kay; Walker, Sara; Milner, Leanne; Hanratty, Helena; Trower, Helen; Phillips, Patrick; Oxspring, Simon; Donne, Ben; Bevan, Emily; Martin, Jane; Trodd, Dawn; Watson, Geoff; Brown, Caroline Wrey; Bunni, Lara; Jennings, Claire; Latif, Monica; Marshall, Rebecca; Subramanian, Gayathri; Bandla, Nageswar; Gellamucho, Minnie; Davies, Michelle; Thompson, Christopher; Trim, Fiona; Eapen, Beena; Ahmed, Cecilia; Baines, Balvinder; Clamp, Sarah; Colley, Julie; Haq, Risna; Hayes, Anne; Hulme, Jonathan; Hussain, Samia; Joseph, Sibet; Kumar, Rita; Maqsood, Zahira; Purewal, Manjit; Chandler, Ben; Elliott, Kerry; Mallinson, Janine; Turnbull, Alison; Dent, Kathy; Horsley, Elizabeth; Akhtar, Muhmmad Nauman; Pearson, Sandra; Potoczna, Dorota; Spencer, Sue; Blakemore, Hayley; Borislavova, Borislava; Faulkner, Beverley; Gendall, Emma; Goff, Elizabeth; Hayes, Kati; Thomas, Matt; Worner, Ruth; Smith, Kerry; Stephens, Deanna; Delgado, Carlos Castro; Dawson, Deborah; Ding, Lijun; Durrant, Georgia; Ezeobu, Obiageri; Farnell-Ward, Sarah; Harrison, Abiola; Kanu, Rebecca; Leaver, Susannah; Maccacari, Elena; Manna, Soumendu; Saluzzio, Romina Pepermans; Queiroz, Joana; Samakomva, Tinashe; Sicat, Christine; Texeira, Joana; Da Gloria, Edna Fernandes; Lisboa, Ana; Rawlins, John; Mathew, Jisha; Kinch, Ashley; Hurt, William James; Shah, Nirav; Clark, Victoria; Thanasi, Maria; Yun, Nikki; Patel, Kamal; Crickmore, Vikki; Debreceni, Gabor; Wilkins, Joy; Nicol, Liz; Burn, Iona; Hambrook, Geraldine; Manso, Katarina; Penn, Ruth; Shanmugasundaram, Pradeep; Tebbutt, Julie; Thornton, Danielle; Rostron, Anthony; Roy, Alistair; Woods, Lindsey; Cornell, Sarah; Wakinshaw, Fiona; Rogerson, Kimberley; Jarmain, Jordan; Anderson, Peter; Archer, Katie; Austin, Karen; Davis, Caroline; Durie, Alison; Kelsall, Olivia; Thrush, Jessica; Vigurs, Charlie; Wild, Laura; Wood, Hannah-Louise; Tranter, Helen; Harrison, Alison; Cowley, Nicholas; McAlindon, Michael; Burtenshaw, Andrew; Digby, Stephen; Low, Emma; Morgan, Aled; Cother, Naiara; Rankin, Tobias; Clayton, Sarah; McCurdy, Alex; Allibone, Suzanne; Mary-Genetu, Roman; Kasipandian, Vidya; Patel, Amit; Mac, Ainhi; Murphy, Anthony; Mahjoob, Parisa; Nazari, Roonak; Worsley, Lucy; Fagan, Andrew; Mohamed Ali, Inthakab Ali; Beaumont, Karen; Blunt, Mark; Coton, Zoe; Curgenven, Hollie; Elsaadany, Mohamed; Fernandes, Kay; Ally, Sameena Mohamed; Rangarajan, Harini; Sarathy, Varun; Selvanayagam, Sivarupan; Vedage, Dave; White, Matthew; Fernandez-Roman, Jaime; Hamilton, David O.; Johnson, Emily; Johnston, Brian; Martinez, Maria Lopez; Mulla, Suleman; Shaw, David; Waite, Alicia A. C.; Waugh, Victoria; Welters, Ingeborg D.; Williams, Karen; Bemand, Thomas; Black, Ethel; Rosa, Arnold Dela; Howle, Ryan; Jhanji, Shaman; Baikady, Ravishankar Rao; Tatham, Kate Colette; Thomas, Benjamin; Halkes, Matthew; Mercer, Pauline; Thornton, Lorraine; West, Joe; Baird, Tracy; Ruddy, Jim; Reece-Anthony, Rosie; Birt, Mark; Cowton, Amanda; Kay, Andrea; Kent, Melanie; Potts, Kathryn; Wilkinson, Ami; Naylor, Suzanne; Brown, Ellen; Clark, Michele; Purvis, Sarah; Cole, Jade; Davies, Michelle; Davies, Rhys; Duffin, Donna; Hill, Helen; Player, Ben; Thomas, Emma; Williams, Angharad; Beith, Claire Marie; Black, Karen; Clements, Suzanne; Morrison, Alan; Strachan, Dominic; Taylor, Margaret; Clarkson, Michelle; D’Sylva, Stuart; Norman, Kathryn; Coventry, Tina; Fowler, Susan; MacMahon, Michael; McGregor, Amanda; Brady, Ailbhe; Chan, Rebekah; Little, Jeff; McIvor, Shane; Prady, Helena; Whittle, Helen; Mathew, Bijoy; Clapham, Melanie; Harper, Rosemary; Poultney, Una; Rice, Polly; Smith, Tim; Mutch, Rachel; Baird, Yolanda; Butler, Aaron; Chadbourn, Indra; Folkes, Linda; Fox, Heather; Gardner, Amy; Gomez, Raquel; Hobden, Gillian; Hodgson, Luke; King, Kirsten; Margarson, Michael; Martindale, Tim; Meadows, Emma; Raynard, Dana; Thirlwall, Yvette; Helm, David; Margalef, Jordi; Greer, Sandra; Shuker, Karen; Tridente, Ascanio; Smuts, Sara; Duffield, Joseph; Smith, Oliver; Mallon, Lewis; Claire, Watkins; Birkinshaw, Isobel; Carter, Joseph; Howard, Kate; Ingham, Joanne; Joy, Rosie; Pearson, Harriet; Roche, Samantha; Scott, Zoe; Knights, Ellen; Price, Alicia; Thomas, Alice; Thorpe, Chris; Abraheem, Azmerelda; Bamford, Peter; Cawley, Kathryn; Dunmore, Charlie; Faulkner, Maria; Girach, Rumanah; Jeffrey, Helen; Jones, Rhianna; London, Emily; Nagra, Imrun; Nasir, Farah; Sainsbury, Hannah; Smedley, Clare; Khade, Reena; Sundar, Ashok; Tsinaslanidis, George; Behan, Teresa; Burnett, Caroline; Hatton, Jonathan; Heeney, Elaine; Mitra, Atideb; Newton, Maria; Pollard, Rachel; Stead, Rachael; Birch, Jenny; Bough, Laura; Goodsell, Josie; Tutton, Rebecca; Williams, Patricia; Williams, Sarah; Winter-Goodwin, Barbara; Auld, Fiona; Donnachie, Joanne; Edmond, Ian; Prentice, Lynn; Runciman, Nikole; Salutous, Dario; Symon, Lesley; Todd, Anne; Turner, Patricia; Short, Abigail; Sweeney, Laura; Murdoch, Euan; Senaratne, Dhaneesha; Burns, Karen; Higham, Andrew; Anderson, Taya; Hawcutt, Dan; O’Malley, Laura; Rad, Laura; Rogers, Naomi; Saunderson, Paula; Allison, Kathryn Sian; Afolabi, Deborah; Whitbread, Jennifer; Jones, Dawn; Dore, Rachael; Lankester, Liana; Nikitas, Nikitas; Wells, Colin; Stowe, Bethan; Spencer, Kayleigh; Cathcart, Susanne; Duffy, Katharine; Puxty, Alex; Puxty, Kathryn; Turner, Lynne; Ireland, Jane; Semple, Gary; Barry, Peter; Hilltout, Paula; Evitts, Jayne; Tyler, Amanda; Waldron, Joanne; Irvine, Val; Shelley, Benjamin; Akinkugbe, Olugbenga; Bamford, Alasdair; Beech, Emily; Belfield, Holly; Bell, Michael; Davies, Charlene; Jones, Gareth A. 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Kenneth; Barclay, Lucy; Callaghan, Marie; Campbell, Rachael; Clark, Sarah; Hope, Dave; Marshall, Lucy; McCulloch, Corrienne; Briton, Kate; Singleton, Jo; Birch, Sophie; Higham, Andrew; Simpson, Kerry; Craig, Jayne; Demetriou, Carrie; Eckbad, Charlotte; Hierons, Sarah; Howie, Lucy; Mitchard, Sarah; Ramos, Lidia; Serrano-Ruiz, Alfredo; White, Katie; Kelly, Fiona; Amin, Vishal; Anastasescu, Elena; Anumakonda, Vikram; Karthik, Komala; Kausar, Rizwana; Reid, Karen; Smith, Jacqueline; Imeson-Wood, Janet; Bellini, Arianna; Bryant, Jade; Mayer, Anton; Pickard, Amy; Roe, Nicholas; Sowter, Jason; Howlett, Alex; Criste, Kristine; Cusack, Rebecca; Golder, Kim; Golding, Hannah; Jones, Oliver; Leggett, Samantha; Male, Michelle; Marani, Martyna; Prager, Kirsty; Williams, Toran; Roberts, Belinda; Salmon, Karen; Gondo, Prisca; Hadebe, B.; Kayani, Abdul; Masunda, Bridgett; Ahmed, Ashar; Morris, Anna; Jakkula, Srinivas; Long, Kate; Whiteley, Simon; Wilby, Elizabeth; Ogg, Bethan; Moultrie, Sam; Odam, M.; Bewley, Jeremy; Garland, Zoe; Grimmer, Lisa; Gumbrill, Bethany; Johnson, Rebekah; Sweet, Katie; Webster, Denise; Efford, Georgia; Bennett, Sara; Goodwin, Emma; Jackson, Matthew; Kent, Alissa; Tibke, Clare; Woodyatt, Wiesia; Zaki, Ahmed; Daniel, Amelia; Finn, Joanne; Saha, Rajnish; Staines, Nikki; Easthope, Amy; Bremmer, Pamela; Allan, J.; Geary, T.; Houston, Gordon; Meikle, A.; O’Brien, P.; Bell, Dina; Boyle, Rosalind; Douglas, Katie; Glass, Lynn; Lee, Emma; Lennon, Liz; Rattray, Austin; Charnock, Rob; McFarland, Denise; Cosgrove, Denise; Attwood, Ben; Parsons, Penny; Carmody, Siobhain; Oblak, Metod; Popescu, Monica; Thankachen, Mini; Baruah, Rosie; Morris, Sheila; Ferguson, Susie; Shepherd, Amy; Altabaibeh, Abdelhakim; Alvaro, Ana; Gilbert, Kayleigh; Ma, Louise; Mostoles, Loreta; Parmar, Chetan; Simpson, Kathryn; Jetha, Champa; Booker, Lauren; Pratley, Anezka; Cosier, Tracey; Millen, Gemma; Richardson, Neil; Schumacher, Natasha; Weston, Heather; Rand, James; Alex, Beatrice; Bach, Benjamin; Barclay, Wendy S.; Bogaert, Debby; Chand, Meera; Cooke, Graham S.; Docherty, Annemarie B.; Dunning, Jake; da Silva Filipe, Ana; Fletcher, Tom; Green, Christoper A.; Harrison, Ewen M.; Hiscox, Julian A.; Ijaz, Samreen; Khoo, Saye; Klenerman, Paul; Lim, Wei Shen; Mentzer, Alexander J.; Merson, Laura; Noursadeghi, Mahdad; Moore, Shona C.; Palmarini, Massimo; Paxton, William A.; Pollakis, Georgios; Price, Nicholas; Rambaut, Andrew; Robertson, David L.; Russell, Clark D.; Sancho-Shimizu, Vanessa; Scott, Janet T.; de Silva, Thushan; Sigfrid, Louise; Solomon, Tom; Sriskandan, Shiranee; Stuart, David; Tedder, Richard S.; Thomson, Emma C.; Roger Thompson, A. 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Eunice; Flaherty, Lisa; Maziere, Nicole; Cass, Emily; Carracedo, Alejandra Doce; Carlucci, Nicola; Holmes, Anthony; Massey, Hannah; Murphy, Lee; Wrobel, Nicola; McCafferty, Sarah; Morrice, Kirstie; MacLean, Alan; Armstrong, Ruth; Boz, Ceilia; Brown, Adam; Clark, Richard; Coutts, Audrey; Cullum, Louise; Day, Nicky; Donnelly, Lorna; Duncan, Esther; Fawkes, Angie; Finernan, Paul; Gilchrist, Tammy; Golightly, Ailsa; Hafezi, Katarzyna; Law, Dawn; Law, Rachel; Law, Sarah; Macgillivray, Louise; Maclean, Alan; Mal, Hanning; McCafferty, Sarah; Mcmaster, Ellie; Meikle, Jen; Moore, Shona C.; Morrice, Kirstie; Murphy, Lee; Oosthuyzen, Wilna; Paterson, Trevor; Stenhouse, Andrew; Swets, Maaike; Szoor-McElhinney, Helen; Taneski, Filip; Wackett, Tony; Ward, Mairi; Weaver, Jane; Wrobel, Nicola; Coyle, Judy; Gallagher, Bernadette; Lidstone-Scott, Rebecca; Hamilton, Debbie; Schon, Katherine; Furlong, Anita; Biggs, Heather; Griffiths, Fiona; Andrews, Eleanor; Brickell, Kathy; Smyth, Michelle; Murphy, Lorna; Carson, Gail; Hardwick, Hayley; Donohue, Chloe
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height
2021-01-01 Libraro A.; D'Ascanio V.; Cappa M.; Chiarito M.; Digilio M.C.; Einaudi S.; Grandone A.; Maghnie M.; Mazzanti L.; Mussa A.; Patti G.; Scarano E.; Spinuzza A.; Vannelli S.; Wasniewska M.G.; Ferrero G.B.; Faienza M.F.
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth
2021-01-01 Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A.
Lateralized and segmental overgrowth in children
2021-01-01 Mussa A.; Carli D.; Cardaropoli S.; Ferrero G.B.; Resta N.
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5)
2021-01-01 Innella, Giovanni; Greco, Donatella; Carli, Diana; Magini, Pamela; Giorgio, Elisa; Galesi, Ornella; Ferrero, Giovanni Battista; Romano, Corrado; Brusco, Alfredo; Graziano, Claudio
Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring
2021-01-01 Andrea Piolatto, Paola Berchialla, Sarah Allegra, Silvia De Francia, Giovanni Battista Ferrero, Antonio Piga, Filomena Longo
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
2020-01-01 Satterstrom, F Kyle; Kosmicki, Jack A; Wang, Jiebiao; Breen, Michael S; De Rubeis, Silvia; An, Joon-Yong; Peng, Minshi; Collins, Ryan; Grove, Jakob; Klei, Lambertus; Stevens, Christine; Reichert, Jennifer; Mulhern, Maureen S; Artomov, Mykyta; Gerges, Sherif; Sheppard, Brooke; Xu, Xinyi; Bhaduri, Aparna; Norman, Utku; Brand, Harrison; Schwartz, Grace; Nguyen, Rachel; Guerrero, Elizabeth E; Dias, Caroline; Aleksic B; Anney R; Barbosa M; Bishop S; Brusco A; Bybjerg-Grauholm J; Carracedo A; Chan MCY; Chiocchetti AG; Chung BHY; Coon H; Cuccaro ML; Curró A; Dalla Bernardina B; Doan R; Domenici E; Dong S; Fallerini C; Fernández-Prieto M; Ferrero GB; Freitag CM; Fromer M; Gargus JJ; Geschwind D; Giorgio E; González-Peñas J; Guter S; Halpern D; Hansen-Kiss E; He X; Herman GE; Hertz-Picciotto I; Hougaard DM; Hultman CM; Ionita-Laza I; Jacob S; Jamison J; Jugessur A; Kaartinen M; Knudsen GP; Kolevzon A; Kushima I; Lee SL; Lehtimäki T; Lim ET; Lintas C; Lipkin WI; Lopergolo D; Lopes F; Ludena Y; Maciel P; Magnus P; Mahjani B; Maltman N; Manoach DS; Meiri G; Menashe I; Miller J; Minshew N; Montenegro EMS; Moreira D; Morrow EM; Mors O; Mortensen PB; Mosconi M; Muglia P; Neale BM; Nordentoft M; Ozaki N; Palotie A; Parellada M; Passos-Bueno MR; Pericak-Vance M; Persico AM; Pessah I; Puura K; Reichenberg A; Renieri A; Riberi E; Robinson EB; Samocha KE; Sandin S; Santangelo SL; Schellenberg G; Scherer SW; Schlitt S; Schmidt R; Schmitt L; Silva IMW; Singh T; Siper PM; Smith M; Soares G; Stoltenberg C; Suren P; Susser E; Sweeney J; Szatmari P; Tang L; Tassone F; Teufel K; Trabetti E; Trelles MDP; Walsh CA; Weiss LA; Werge T; Werling DM; Wigdor EM; Wilkinson E; Willsey AJ; Yu TW; Yu MHC; Yuen R; Zachi E; Agerbo E; Als TD; Appadurai V; Bækvad-Hansen M; Belliveau R; Buil A; Carey CE; Cerrato F; Chambert K; Churchhouse C; Dalsgaard S; Demontis D; Dumont A; Goldstein J; Hansen CS; Hauberg ME; Hollegaard MV; Howrigan DP; Huang H; Maller J; Martin AR; Martin J; Mattheisen M; Moran J; Pallesen J; Palmer DS; Pedersen CB; Pedersen MG; Poterba T; Poulsen JB; Ripke S; Schork AJ; Thompson WK; Turley P; Walters RK; Betancur, Catalina; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Sutcliffe, James S; Thurm, Audrey; Zwick, Michael E; Børglum, Anders D; State, Matthew W; Cicek, A Ercument; Talkowski, Michael E; Cutler, David J; Devlin, Bernie; Sanders, Stephan J; Roeder, Kathryn; Daly, Mark J; Buxbaum, Joseph D
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome
2020-01-01 Carli D.; Gazzin A.; Bongioanni M.R.; Bergui M.; Mussa A.; Ferrero G.B.
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study
2020-01-01 Calcagni G.; Gagliostro G.; Limongelli G.; Unolt M.; De Luca E.; Digilio M.C.; Baban A.; Albanese S.B.; Ferrero G.B.; Baldassarre G.; Agnoletti G.; Banaudi E.; Marek J.; Kaski J.P.; Tuo G.; Marasini M.; Cairello F.; Madrigali A.; Pacileo G.; Russo M.G.; Milanesi O.; Formigari R.; Brighenti M.; Ragni L.; Donti A.; Drago F.; Dallapiccola B.; Tartaglia M.; Marino B.; Versacci P.
BULLOUS PILOMATRIXOMA
2020-01-01 Garofalo S.; Guana R.; Scottoni F.; Cortese M.G.; Cerrina A.; Linari A.; Carli D.; Ferrero G.B.; Gennari F.
Prenatal phenotype in Beckwith-Wiedemann spectrum
2020-01-01 Carli, D; Bertola, C; Cardaropoli, S; Ciuffreda, VP; Pieretto, M; Ferrero, GB; Mussa, A
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance
2020-01-01 Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A
Esophageal duplication cyst in newborn
2020-01-01 Garofalo S.; Schleef J.; Guana R.; Suteu L.; Cortese M.G.; Carli D.; Ferrero Giovanni Battista; Gennari F.
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants
2020-01-01 Zhang L.X.; Lemire G.; Gonzaga-Jauregui C.; Molidperee S.; Galaz-Montoya C.; Liu D.S.; Verloes A.; Shillington A.G.; Izumi K.; Ritter A.L.; Keena B.; Zackai E.; Li D.; Bhoj E.; Tarpinian J.M.; Bedoukian E.; Kukolich M.K.; Innes A.M.; Ediae G.U.; Sawyer S.L.; Nair K.M.; Soumya P.C.; Subbaraman K.R.; Probst F.J.; Bassetti J.A.; Sutton R.V.; Gibbs R.A.; Brown C.; Boone P.M.; Holm I.A.; Tartaglia M.; Ferrero G.B.; Niceta M.; Dentici M.L.; Radio F.C.; Keren B.; Wells C.F.; Coubes C.; Laquerriere A.; Aziza J.; Dubucs C.; Nampoothiri S.; Mowat D.; Patel M.S.; Bracho A.; Cammarata-Scalisi F.; Gezdirici A.; Fernandez-Jaen A.; Hauser N.; Zarate Y.A.; Bosanko K.A.; Dieterich K.; Carey J.C.; Chong J.X.; Nickerson D.A.; Bamshad M.J.; Lee B.H.; Yang X.-J.; Lupski J.R.; Campeau P.M.
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder
2020-01-01 D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients
2020-01-01 Bryant L.; Li D.; Cox S.G.; Marchione D.; Joiner E.F.; Wilson K.; Janssen K.; Lee P.; March M.E.; Nair D.; Sherr E.; Fregeau B.; Wierenga K.J.; Wadley A.; Mancini G.M.S.; Powell-Hamilton N.; van de Kamp J.; Grebe T.; Dean J.; Ross A.; Crawford H.P.; Powis Z.; Cho M.T.; Willing M.C.; Manwaring L.; Schot R.; Nava C.; Afenjar A.; Lessel D.; Wagner M.; Klopstock T.; Winkelmann J.; Catarino C.B.; Retterer K.; Schuette J.L.; Innis J.W.; Pizzino A.; Luttgen S.; Denecke J.; Strom T.M.; Monaghan K.G.; Yuan Z.-F.; Dubbs H.; Bend R.; Lee J.A.; Lyons M.J.; Hoefele J.; Gunthner R.; Reutter H.; Keren B.; Radtke K.; Sherbini O.; Mrokse C.; Helbig K.L.; Odent S.; Cogne B.; Mercier S.; Bezieau S.; Besnard T.; Kury S.; Redon R.; Reinson K.; Wojcik M.H.; Ounap K.; Ilves P.; Innes A.M.; Kernohan K.D.; Costain G.; Meyn M.S.; Chitayat D.; Zackai E.; Lehman A.; Kitson H.; Martin M.G.; Martinez-Agosto J.A.; Nelson S.F.; Palmer C.G.S.; Papp J.C.; Parker N.H.; Sinsheimer J.S.; Vilain E.; Wan J.; Yoon A.J.; Zheng A.; Brimble E.; Ferrero G.B.; Radio F.C.; Carli D.; Barresi S.; Brusco A.; Tartaglia M.; Thomas J.M.; Umana L.; Weiss M.M.; Gotway G.; Stuurman K.E.; Thompson M.L.; McWalter K.; Stumpel C.T.R.M.; Stevens S.J.C.; Stegmann A.P.A.; Tveten K.; Vollo A.; Prescott T.; Fagerberg C.; Laulund L.W.; Larsen M.J.; Byler M.; Lebel R.R.; Hurst A.C.; Dean J.; Schrier Vergano S.A.; Norman J.; Mercimek-Andrews S.; Neira J.; Van Allen M.I.; Longo N.; Sellars E.; Louie R.J.; Cathey S.S.; Brokamp E.; Heron D.; Snyder M.; Vanderver A.; Simon C.; de la Cruz X.; Padilla N.; Crump J.G.; Chung W.; Garcia B.; Hakonarson H.H.; Bhoj E.J.
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review
2020-01-01 Trajkova S.; Di Gregorio E.; Ferrero G.B.; Carli D.; Pavinato L.; Delplancq G.; Kuentz P.; Brusco A.
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome.
2019-01-01 Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome
2019-01-01 Mussa, Alessandro; Duffy, Kelly A; Carli, Diana; Ferrero, Giovanni Battista; Kalish, Jennifer M
Psychopathology in adolescents and adults with autism spectrum disorders
2019-01-01 Brusco Alfredo; Ferrero Giovanni Battista
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome
2019-01-01 Mussa, Alessandro; Ciuffreda, Valentina Pia; Sauro, Pina; Pagliardini, Veronica; Pagliardini, Severo; Carli, Diana; Kalish, Jennifer M.; Fagioli, Franca; Pavanello, Enza; Ferrero, Giovanni Battista
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
2019-01-01 Salpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G; Santiago-Sim, Teresa; Person, Richard E; Cho, Megan T; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M; Jaeger, Bregje; Schneider, Amy L; Boysen, Katja; Muir, Alison M; Myers, Candace T; Gavrilova, Ralitza H; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Peñas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Raspall-Chaure, Miquel; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C; Scheffer, Ingrid E; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E; Eichler, Evan E; Kullmann, Dimitri M; Houlden, Henry
Recessive gene disruptions in autism spectrum disorder
2019-01-01 Doan R.N.; Lim E.T.; De Rubeis S.; Betancur C.; Cutler D.J.; Chiocchetti A.G.; Overman L.M.; Soucy A.; Goetze S.; ASC consortium; Brusco A.; Curró A.; Fallerini C.; Lopergolo D.; Lintas C.; Domenici E.; Dalla Bernardina B.; Ferrero G.B.; Giorgio E.; Trabetti E.; Renieri A.; Riberi E.; Freitag C.M.; Daly M.J.; Walsh C.A.; Buxbaum J.D.; Yu T.W.
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes
2019-01-01 Crippa M.; Bonati M.T.; Calzari L.; Picinelli C.; Gervasini C.; Sironi A.; Bestetti I.; Guzzetti S.; Bellone S.; Selicorni A.; Mussa A.; Riccio A.; Ferrero Giovanni Battista .; Russo S.; Larizza L.; Finelli P.
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum
2019-01-01 Mussa A.; Duffy K.A.; Carli D.; Griff J.R.; Fagiano R.; Kupa J.; Brodeur G.M.; Ferrero Giovanni Battista; Kalish J.M.
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization
2019-01-01 Carli D.; Ferrero G.B.; Mussa A.
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome
2019-01-01 Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A.
Adult phenotype of Beckwith-Wiedemann syndrome
2019-01-01 Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus
2019-01-01 Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F.
ECG in Noonan syndrome: Beyond the “normal abnormalities”
2019-01-01 Mazza G.A.; Banaudi E.; Ferrero G.B.; Baldassarre G.; Agnoletti G.
Syndromic Disorders Caused by Disturbed Human Imprinting
2019-01-01 Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations
2019-01-01 Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells
2018-01-01 Ho, Bianca; Greenlaw, Keelin; Al Tuwaijri, Abeer; Moussette, Sanny; Martínez, Francisco; Giorgio, Elisa; Brusco, Alfredo; Ferrero, Giovanni Battista; Linhares, Natália D; Valadares, Eugênia R; Svartman, Marta; Kalscheuer, Vera M; Rodríguez Criado, Germán; Laprise, Catherine; Greenwood, Celia M T; Naumova, Anna K
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele
2018-01-01 Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply
2018-01-01 Brioude, Frédéric; Hennekam, Raoul; Bliek, Jet; Coze, Carole; Eggermann, Thomas; Ferrero, Giovanni B; Kratz, Christian; Bouc, Yves Le; Maas, Saskia M; Mackay, Deborah J G; Maher, Eamonn R; Mussa, Alessandro; Netchine, Irene
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
2018-01-01 Calcagni, Giulio*; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, Maria Cristina; Baban, Anwar; Albanese, Sonia B.; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B.; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P.; Tuo, Giulia; Russo, Maria Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement
2018-01-01 Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome
2018-01-01 gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome
2017-01-01 Mussa, Alessandro; Ferrero, Giovanni Battista
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome
2017-01-01 Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes
2017-01-01 Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
Constitutional bone impairment in Noonan syndrome
2017-01-01 Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results
2017-01-01 Calcagni, Giulio; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, M Cristina; Baban, Anwar; Albanese, Sonia B; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P; Tuo, Giulia; Russo, M Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant
2017-01-01 Borghesi, Alessandro; Mencarelli, Maria Antonietta; Memo, Luigi; Ferrero, Giovanni Battista; Bartuli, Andrea; Genuardi, Maurizio; Stronati, Mauro; Villani, Alberto; Renieri, Alessandra; Corsello, Giovanni
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome
2017-01-01 Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients
2017-01-01 Montin, Davide; Licciardi, Francesco; Giorgio, Elisa; Ciolfi, Andrea; Pizzi, Simone; Mussa, Alessandro; Meazza, Raffaella; Tartaglia, Marco; Brusco, Alfredo; Pende, Daniela; Ferrero, Giovanni Battista
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder
2017-01-01 Lim ET; Uddin M; De Rubeis S; Chan Y; Kamumbu AS; Zhang X; D'Gama AM; Kim SN; Hill RS; Goldberg AP; Poultney C; Minshew NJ; Kushima I; Aleksic B; Ozaki N; Parellada M; Arango C; Penzol MJ; Carracedo A; Kolevzon A; Hultman CM; Weiss LA; Fromer M; Chiocchetti AG; Freitag CM; Church GM; Scherer SW; Buxbaum JD; Walsh CA; Autism Sequencing Consortium including Aleksic B; Anney R; Barbosa M; Barrett J; Betancur C; Bishop S; Brusco A; Buxbaum JD; Carracedo A; Chiocchetti AG; Chung BHY; Cook E; Coon H; Cutler DJ; Daly M; De Rubeis S; Doan R; Fernández-Prieto M; Ferrero GB; Freitag CM; Fromer M; Gargus J; Geschwind D; Gill M; Gómez-Guerrero L; Hansen-Kiss E; He X; Herman G; Hertz-Picciotto I; Hultman C; Iliadou B; Ionita-Laza I; Jugessur A; Knudsen GP; Kolevzon A; Kosmicki J; Kushima I; Lee SL; Lehner T; Lennertz S; Lim E; Maciel P; Magnus P; Manoach D; Minshew N; Morrow E; Mulle J; Neale B; Ozaki N; Palotie A; Parellada M; Passos-Bueno MR; Pericak-Vance M; Persico A; Pessah I; Reichenberg A; Reichert J; Renieri A; Robinson E; Samocha K; Sanders S; Sandin S; Santangelo SL; Satterstrom K; Schafer C; Schellenberg G; Scherer S; Senthil G; Silva M; Singh T; Siper PM; Soares G; Stevens C; Stoltenberg C; Surén P; Sutcliffe JS; Szatmari P; Tassone F; Thurm A; Walsh C; Weiss L; Werling D; Willsey J; Xu X; Yu TW; Yuen R; Zwick ME
PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts
2017-01-01 De Santis, Maria Chiara; Sala, Valentina; Martini, Miriam; Ferrero, Giovanni Battista; Hirsch, Emilio
Nomenclature and definition in asymmetric regional body overgrowth
2017-01-01 Kalish, Jennifer M; Biesecker, Leslie G.; Brioude, Frederic; Deardorff, Matthew A.; Di Cesare-Merlone, Alessandra; Druley, Todd; Ferrero, Giovanni B.; Lapunzina, Pablo; Larizza, Lidia; Maas, Saskia; Macchiaiolo, Marina; Maher, Eamonn R.; Maitz, Silvia; Martinez-Agosto, Julian A.; Mussa, Alessandro; Robinson, Peter; Russo, Silvia; Selicorni, Angelo; Hennekam, Raoul C.
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability
2017-01-01 Reggiani, Claudio; Coppens, Sandra; Sekhara, Tayeb; Dimov, Ivan; Pichon, Bruno; Lufin, Nicolas; Addor, Marie-Claude; Belligni, Elga Fabia; Digilio, Maria Cristina; Faletra, Flavio; Ferrero, Giovanni Battista; Gerard, Marion; Isidor, Bertrand; Joss, Shelagh; Niel-Bütschi, Florence; Perrone, Maria Dolores; Petit, Florence; Renieri, Alessandra; Romana, Serge; Topa, Alexandra; Vermeesch, Joris Robert; Lenaerts, Tom; Casimir, Georges; Abramowicz, Marc; Bontempi, Gianluca; Vilain, Catheline; Deconinck, Nicolas; Smits, Guillaume
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes
2017-01-01 DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista
Genetica dell'autismo
2016-01-01 Elisa Biamino; Marco Gregnanin; Alfredo Brusco; Giovanni Battista Ferrero
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes
2016-01-01 Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Divizia, Maria Teresa; Melis, Daniela; Manfredini, Emanuela; Ferrero, Giovanni Battista; Pecile, Vanna; Larizza, Lidia
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine
2016-01-01 Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B
Cover Image, Volume 170A, Number 7, July 2016
2016-01-01 Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome
2016-01-01 Mussa, Alessandro; Di Candia, Stefania; Russo, Silvia; Catania, Serena; De Pellegrin, Maurizio; Di Luzio, Luisa; Ferrari, Mario; Tortora, Chiara; Meazzini, Maria Costanza; Brusati, Roberto; Milani, Donatella; Zampino, Giuseppe; Montirosso, Rosario; Riccio, Andrea; Selicorni, Angelo; Cocchi, Guido; Ferrero, Giovanni Battista
Fetal growth patterns in Beckwith-Wiedemann syndrome
2016-01-01 Mussa, A; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M.F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M.V.; Selicorni, A.; Silengo, M.C.; Larizza, L.; Riccio, A.; Ferrero, G.B.
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol.
2016-01-01 Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome
2016-01-01 Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista
Prevention and management of hearing loss in syndromic craniosynostosis: A case series
2016-01-01 Biamino, Elisa; Canale, Andrea; Lacilla, Michelangelo; Marinosci, Annalisa; Dagna, Federico; Genitori, Lorenzo; Peretta, Paola; Silengo, Margherita; Albera, Roberto; Ferrero, Giovanni Battista
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples
2016-01-01 Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity
2016-01-01 Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability
2015-01-01 Gandin, I; Faletra, F; Faletra, F; Carella, M; Pecile, V; Ferrero, Giovanni Battista; Biamino, Elisa; Palumbo, P; Palumbo, O; Bosco, P; Romano, C; Belcaro, C; Vozzi, D; D'Adamo, Ap
Screening hepatoblastoma in Beckwith-Wiedemann syndrome: A complex issue
2015-01-01 Mussa, Alessandro; Ferrero, Giovanni Battista
Titolo | Data di pubblicazione | Autore(i) | File |
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DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity | 2024 | Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo | |
Identification of the DNA methylation signature of Mowat-Wilson syndrome | 2024 | Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia | |
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry | 2024 | Calcaterra, Valeria; Tornese, Gianluca; Zuccotti, Gianvincenzo; Staiano, Annamaria; Cherubini, Valentino; Gaudino, Rossella; Fazzi, Elisa Maria; Barbi, Egidio; Chiarelli, Francesco; Corsello, Giovanni; Esposito, Susanna Maria Roberta; Ferrara, Pietro; Iughetti, Lorenzo; Laforgia, Nicola; Maghnie, Mohamad; Marseglia, Gianluigi; Perilongo, Giorgio; Pettoello-Mantovani, Massimo; Ruggieri, Martino; Russo, Giovanna; Salerno, Mariacarolina; Striano, Pasquale; Valerio, Giuliana; Wasniewska, Malgorzata; null, null; Agosti, Massimo; Agostoni, Carlo Virginio; Aiuti, Alessandro; Azzari, Chiara; Badolato, Raffaele; Balduzzi, Adriana; Baraldi, Eugenio; Canani, Roberto Berni; Biffi, Alessandra; Biondi, Andrea; Bisogno, Gianni; Pierri, Nicola Brunetti; Carnielli, Virginio; Cianfarani, Stefano; Cogo, Paola; Corvaglia, Luigi; Dani, Carlo; Di Salvo, Giovanni; Fagioli, Franca; Fanos, Vassilios; Ferrero, Giovanni Battista; Francavilla, Ruggiero; Galli, Luisa; Gazzolo, Diego; Giaquinto, Carlo; Giordano, Paola; Gitto, Eloisa; Grosso, Salvatore; Guarino, Alfredo; Indrio, Flavia; Lanari, Marcello; Lionetti, Paolo; Locatelli, Franco; Lombardo, Fortunato; Maffeis, Claudio; Marino, Bruno; Midulla, Fabio; Del Giudice, Emanuele Miraglia; Del Giudice, Michele Miraglia; Montini, Giovanni; Parenti, Giancarlo; Parisi, Pasquale; Peroni, Diego; Perrotta, Silverio; Piacentini, Giorgio; Pietrobelli, Angelo; Raimondi, Francesco; Ramenghi, Ugo; Ravelli, Angelo; Romano, Claudio; Rossi, Francesca; Rossi, Paolo; Damiano, Vincenzo Salpietro; Spalice, Alberto; Suppiej, Agnese; Troncone, Riccardo; Verrotti, Alberto | |
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants | 2024 | van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A | |
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder | 2023 | Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; Palazzolo, Luca; Di Luca, Monica; Costa, Alex; Marcantoni, Andrea; Biamino, Elisa; Spada, Marco; Hiatt, Susan M; Kelley, Whitley V; Vestito, Letizia; Sisodiya, Sanjay M; Efthymiou, Stephanie; Chand, Prem; Kaiyrzhanov, Rauan; Bruselles, Alessandro; Cardaropoli, Simona; Tartaglia, Marco; De Rubeis, Silvia; Buxbaum, Joseph D; Smedley, Damian; Ferrero, Giovanni Battista; Giustetto, Maurizio; Gardoni, Fabrizio; Brusco, Alfredo | |
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth | 2023 | Luca, Maria; Piglionica, Marilidia; Bagnulo, Rosanna; Cardaropoli, Simona; Carli, Diana; Turchiano, Antonella; Coppo, Paola; Pantaleo, Antonino; Iacoviello, Matteo; Ferrero, Giovanni Battista; Mussa, Alessandro; Resta, Nicoletta | |
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation | 2023 | Melo, Uirá Souto; Jatzlau, Jerome; Prada-Medina, Cesar A; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schöpflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-García, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geißler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte | |
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD | 2023 | Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo | |
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association | 2023 | Gazzin, Andrea; Leoni, Chiara; Viscogliosi, Germana; Borgini, Federica; Perri, Lucrezia; Iacoviello, Matteo; Piglionica, Marilidia; De Pellegrin, Maurizio; Ferrero, Giovanni Battista; Bartuli, Andrea; Zampino, Giuseppe; Buonuomo, Paola Sabrina; Resta, Nicoletta; Mussa, Alessandro | |
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development | 2023 | Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D’Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro | |
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return | 2023 | Huth, Emily A; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N; Vogel, Ida; Dorf, Inger L H; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J; Louw, Jacoba J; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S; Rankin, Julia; Helvaty, Lindsey R; Landis, Benjamin J; Geddes, Gabrielle C; McBride, Kim L; Ware, Stephanie M; Shaw, Chad A; Lalani, Seema R; Rosenfeld, Jill A; Scott, Daryl A | |
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants | 2023 | Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta | |
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder | 2023 | Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter | |
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes | 2023 | Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo | |
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques | 2022 | Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro | |
Epilepsy in a cohort of children with Noonan syndrome and related disorders | 2022 | Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista | |
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data | 2022 | Hardcastle, Amy; Berry, Aliska M; Campbell, Ian M; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E; Rosenfeld, Jill A; Sisoudiya, Saumya D; Hernandez-Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L; Capolino, Rossella; Digilio, Maria C; Graziani, Ludovico; Rustad, Cecilie F; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; Van Den Bogaert, Kris; Boogaerts, Anneleen; McMullan, Dominic J; Dean, John; Giuffrida, Maria G; Bernardini, Laura; Varghese, Vinod; Shannon, Nora L; Harrison, Rachel E; Lam, Wayne W K; McKee, Shane; Turnpenny, Peter D; Cole, Trevor; Morton, Jenny; Eason, Jacqueline; Jones, Marilyn C; Hall, Rebecca; Wright, Michael; Horridge, Karen; Shaw, Chad A; Chung, Wendy K; Scott, Daryl A | |
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts | 2022 | Giuliana Giannuzzi; Nicolas Chatron; Katrin Mannik; Chiara Auwerx; Sylvain Pradervand; Gilles Willemin; Kendra Hoekzema; Xander Nuttle; Jacqueline Chrast; Marie C. Sadler; Eleonora Porcu; Nicolas Chatron; Katrin Männik; Damien Sanlaville; Caroline Schluth-Bolard; Cédric Le Caignec; Mathilde Nizon; Sandra Martin; Sébastien Jacquemont; Armand Bottani; Marion Gérard; Sacha Weber; Aurélia Jacquette; Catherine Vincent-Delorme; Aurora Currò; Francesca Mari; Alessandra Renieri; Alfredo Brusco; Giovanni Battista Ferrero; Yann Herault; Bertrand Isidor; Brigitte Gilbert-Dussardier; Evan E. Eichler; Zoltan Kutalik; Alexandre Reymond | |
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus | 2022 | Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A | |
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis | 2022 | Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A. | |
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway | 2022 | Carli, Diana; Resta, Nicoletta; Ferrero, Giovanni Battista; Ruggieri, Martino; Mussa, Alessandro | |
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors | 2022 | Alves, C A P F; Sherbini, O; D'Arco, F; Steel, D; Kurian, M A; Radio, F C; Ferrero, G B; Carli, D; Tartaglia, M; Balci, T B; Powell-Hamilton, N N; Schrier Vergano, S A; Reutter, H; Hoefele, J; Günthner, R; Roeder, E R; Littlejohn, R O; Lessel, D; Lüttgen, S; Kentros, C; Anyane-Yeboa, K; Catarino, C B; Mercimek-Andrews, S; Denecke, J; Lyons, M J; Klopstock, T; Bhoj, E J; Bryant, L; Vanderver, A | |
Lateralized overgrowth with vascular malformation caused by a somatic PTPN11 pathogenic variant: Another piece added to the puzzle of mosaic RASopathies | 2022 | Mussa, Alessandro; Turchiano, Antonella; Cardaropoli, Simona; Coppo, Paola; Pantaleo, Antonino; Bagnulo, Rosanna; Ranieri, Carlotta; Iacoviello, Matteo; Garganese, Antonella; Stella, Alessandro; Vallero, Stefano Gabriele; Bertin, Daniele; Santoro, Federica; Carli, Diana; Ferrero, Giovanni Battista; Resta, Nicoletta | |
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease | 2022 | Mussa A.; Carli D.; Giorgio E.; Villar A.M.; Cardaropoli S.; Carbonara C.; Campagnoli M.F.; Galletto P.; Palumbo M.; Olivieri S.; Isella C.; Andelfinger G.; Tartaglia M.; Botta G.; Brusco A.; Medico E.; Ferrero G.B. | |
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome | 2022 | Carli, Diana; Cardaropoli, Simona; Tessaris, Daniele; Coppo, Paola; La Selva, Roberta; Cesario, Claudia; Lepri, Francesca Romana; Pullano, Verdiana; Palumbo, Martina; Ramenghi, Ugo; Brusco, Alfredo; Medico, Enzo; De Sanctis, Luisa; Ferrero, Giovanni Battista; Mussa, Alessandro | |
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome | 2022 | Davico, Chiara; Borgogno, Marta; Campagna, Filippa; D'Alessandro, Rossella; Ricci, Federica; Amianto, Federico; Mussa, Alessandro; Carli, Diana; Ferrero, Giovanni Battista; Vitiello, Benedetto | |
Rare coding variation provides insight into the genetic architecture and phenotypic context of autism | 2022 | Fu, Jack M; Satterstrom, F Kyle; Peng, Minshi; Brand, Harrison; Collins, Ryan L; Dong, Shan; Wamsley, Brie; Klei, Lambertus; Wang, Lily; Hao, Stephanie P; Stevens, Christine R; Cusick, Caroline; Babadi, Mehrtash; Banks, Eric; Collins, Brett; Dodge, Sheila; Gabriel, Stacey B; Gauthier, Laura; Lee, Samuel K; Liang, Lindsay; Ljungdahl, Alicia; Mahjani, Behrang; Sloofman, Laura; Smirnov, Andrey N; Barbosa, Mafalda; Betancur, Catalina; Brusco, Alfredo; Chung, Brian H Y; Cook, Edwin H; Cuccaro, Michael L; Domenici, Enrico; Ferrero, Giovanni Battista; Gargus, J Jay; Herman, Gail E; Hertz-Picciotto, Irva; Maciel, Patricia; Manoach, Dara S; Passos-Bueno, Maria Rita; Persico, Antonio M; Renieri, Alessandra; Sutcliffe, James S; Tassone, Flora; Trabetti, Elisabetta; Campos, Gabriele; Cardaropoli, Simona; Carli, Diana; Chan, Marcus C Y; Fallerini, Chiara; Giorgio, Elisa; Girardi, Ana Cristina; Hansen-Kiss, Emily; Lee, So Lun; Lintas, Carla; Ludena, Yunin; Nguyen, Rachel; Pavinato, Lisa; Pericak-Vance, Margaret; Pessah, Isaac N; Schmidt, Rebecca J; Smith, Moyra; Costa, Claudia I S; Trajkova, Slavica; Wang, Jaqueline Y T; Yu, Mullin H C; Cutler, David J; De Rubeis, Silvia; Buxbaum, Joseph D; Daly, Mark J; Devlin, Bernie; Roeder, Kathryn; Sanders, Stephan J; Talkowski, Michael E | |
Onset of treatment-resistant schizophrenia in an adolescent with undiagnosed autism | 2021 | Keller R.; Carli D.; Brighenti S.; Salerno L.; Biamino E.; Raino E.; Vitiello B.; Ferrero G.B. | |
Evolution over Time of Leg Length Discrepancy in Patients with Syndromic and Isolated Lateralized Overgrowth | 2021 | Carli, Diana; De Pellegrin, Maurizio; Franceschi, Luisa; Zinali, Federica; Paonessa, Matteo; Spolaore, Simone; Cardaropoli, Simona; Cravino, Mattia; Marcucci, Lorenzo; Andreacchio, Antonio; Resta, Nicoletta; Ferrero, Giovanni Battista; Mussa, Alessandro | |
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review | 2021 | Pavinato L.; Trajkova S.; Grosso E.; Giorgio E.; Bruselles A.; Radio F.C.; Pippucci T.; Dimartino P.; Tartaglia M.; Petlichkovski A.; De Rubeis S.; Buxbaum J.; Ferrero G.B.; Keller R.; Brusco A. | |
Bowel loop sign in a newborn | 2021 | Garofalo, Salvatore; Guanà, Riccardo; Schleef, Jurgen; Cortese, Maria Grazia; Carli, Diana; Suteu, Liana; Ferrero, Giovanni Battista; Gennari, Fabrizio | |
Prenatal features in Beckwith-Wiedemann syndrome and indications for prenatal testing | 2021 | Carli D.; Bertola C.; Cardaropoli S.; Ciuffreda V.P.; Pieretto M.; Ferrero G.B.; Mussa A. | |
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot | 2021 | Carli, Diana; Moroni, Alice; Eleonora, Di Gregorio; Zonta, Andrea; Montin, Davide; Licciardi, Francesco; Aidala, Enrico; Bordese, Roberto; Carlo, Pace Napoleone; Brusco, Alfredo; Giovanni Battista, Ferrero; Mussa, Alessandro | |
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question | 2021 | Quarello, Paola; Perotti, Daniela; Carli, Diana; Giorgio, Elisa; Sirchia, Fabio; Brusco, Alfredo; Ferrero, Giovanni Battista; Mussa, Alessandro; Spadea, Manuela; Ciceri, Sara; Spreafico, Filippo; Fagioli, Franca | |
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)” | 2021 | Tuli G.; Munarin J.; Mussa A.; Carli D.; Gastaldi R.; Borgia P.; Vigone M.C.; Abbate M.; Ferrero G.B.; De Sanctis L. | |
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum | 2021 | Carli D.; Kalantari S.; Manicone R.; Coppo P.; Francia di Celle P.; La Selva R.; Santoro F.; Ranieri C.; Cardaropoli S.; Fagioli F.; Ferrero G.B.; Resta N.; Mussa A. | |
Mapping the human genetic architecture of COVID-19 | 2021 | Niemi, Mari E. K.; Karjalainen, Juha; Liao, Rachel G.; Neale, Benjamin M.; Daly, Mark; Ganna, Andrea; Pathak, Gita A.; Andrews, Shea J.; Kanai, Masahiro; Veerapen, Kumar; Fernandez-Cadenas, Israel; Schulte, Eva C.; Striano, Pasquale; Marttila, Minttu; Minica, Camelia; Marouli, Eirini; Karim, Mohd Anisul; Wendt, Frank R.; Savage, Jeanne; Sloofman, Laura; Butler-Laporte, Guillaume; Kim, Han-Na; Kanoni, Stavroula; Okada, Yukinori; Byun, Jinyoung; Han, Younghun; Uddin, Mohammed Jashim; Smith, George Davey; Willer, Cristen J.; Buxbaum, Joseph D.; Mehtonen, Juha; Finucane, Hilary; Cordioli, Mattia; Martin, Alicia R.; Zhou, Wei; Pasaniuc, Bogdan; Julienne, Hanna; Aschard, Hugues; Shi, Huwenbo; Yengo, Loic; Polimanti, Renato; Ghoussaini, Maya; Schwartzentruber, Jeremy; Dunham, Ian; Chwialkowska, Karolina; Francescatto, Margherita; Trankiem, Amy; Balaconis, Mary K.; Davis, Lea; Lee, Sulggi; Priest, James; Renieri, Alessandra; Sankaran, Vijay G.; van Heel, David; Deelen, Patrick; Richards, J. Brent; Nakanishi, Tomoko; Biesecker, Les; Kerchberger, V. Eric; Baillie, J. Kenneth; Mari, Francesca; Bernasconi, Anna; Baillie, Stefano Ceri; Canakoglu, Arif; Wolford, Brooke; Faucon, Annika; Dutta, Atanu Kumar; Schurmann, Claudia; Harry, Emi; Birney, Ewan; Nguyen, Huy; Nasir, Jamal; Kaunisto, Mari; Solomonson, Matthew; Dueker, Nicole; Vadgama, Nirmal; Limou, Sophie; Rahmouni, Souad; Mbarek, Hamdi; Darwish, Dima; Uddin, Md Mesbah; Albertos, Raquel; Pérez-Tur, Jordi; Li, Ruolin; Folkersen, Lasse; Moltke, Ida; Koelling, Nils; Teumer, Alexander; Kousathanas, Athanasios; Utrilla, Alicia; Verdugo, Ricardo A.; Zárate, Ruth; Medina-Gómez, Carolina; Gómez-Cabrero, David; Carnero-Montoro, Elena; Cadilla, Carmen L.; Moreno-Estrada, Andrés; Garmendia, Adriana; Moya, Leire; Sedaghati-Khayat, Bahar; Boua, Palwendé Romuald; Favé, Marie-Julie; Francioli, Laurent; Lemaçon, Audrey; Migeotte, Isabelle; Patel, Sanjay; Varnai, Reka; Szentpeteri, Jozsef L.; Sipeky, Csilla; Colombo, Francesca; von Hohenstaufen, Kathrin; Lio, Pietro; Vallerga, Costanza; Wang, Qingbo; Tanigawa, Yosuke; Im, Hogune; Han, Chulho; Song, Han; Lim, Jiwoo; Lee, Younhe; Kim, Sugyeong; Im, Sangyoon; Atanasovska, Biljana; Ahmad, Hajar Fauzan; Boer, Cindy; Jansen, Philip; Franke, Lude; Kaja, Elżbieta; Pasko, Dorota; Kennis-Szilagyi, Ingrid; Kornilov, Sergey A.; Prijatelj, Vid; Prokić, Ivana; Sivanadhan, Ilangkumaran; Perumal, Sarala; Esmaeeli, Sahar; Pearson, Nathaniel M.; Auton, Adam; Shelton, Janie F.; Shastri, Anjali J.; Filshtein-Sonmez, Teresa; Coker, Daniella; Symons, Antony; Esparza-Gordillo, Jorge; Aslibekyan, Stella; O’Connell, Jared; Ye, Chelsea; Weldon, Catherine H.; Perera, Minoli; O’Leary, Kevin; Tuck, Matthew; O’Brien, Travis; Meltzer, David; O’Donnell, Peter; Nutescu, Edith; Yang, Guang; Alarcon, Cristina; Herrmann, Stefanie; Mazurek, Sophia; Banagan, Jeff; Hamidi, Zacharia; Barbour, April; Raffat, Noora; Moreno, Diana; Friedman, Paula; Ferwerda, Bart; van de Beek, Diederik; Brouwer, Matthijs C.; Vlaar, Alexander P. J.; Wiersinga, W. Joost; Posthuma, Danielle; Tissink, Elleke; Koos Zwinderman, A. H.; Uffelmann, Emil; van Agtmael, Michiel; Algera, Anne Geke; van Baarle, Frank; Bax, Diane; Beudel, Martijn; Jan Bogaard, Harm; Bomers, Marije; Bonta, Peter I.; Bos, Lieuwe; Botta, Michela; de Brabander, Justin; de Bree, Godelieve; de Bruin, Sanne; Bugiani, Marianna; Bulle, Esther; Chouchane, Osoul; Cloherty, Alex; Dongelmans, Dave; Elbers, Paul; Fleuren, Lucas; Geerlings, Suzanne; Geerts, Bart; Geijtenbeek, Theo; Girbes, Armand; Goorhuis, Bram; Grobusch, Martin P.; Hafkamp, Florianne; Hagens, Laura; Hamann, Jorg; Harris, Vanessa; Hemke, Robert; Hermans, Sabine M.; Heunks, Leo; Hollmann, Markus; Horn, Janneke; Hovius, Joppe W.; de Jong, Menno D.; Koning, Rutger; van Mourik, Niels; Nellen, Jeannine; Nossent, Esther J.; Paulus, Frederique; Peters, Edgar; van der Poll, Tom; Preckel, Bennedikt; Prins, Jan M.; Raasveld, Jorinde; Reijnders, Tom; Schinkel, Michiel; Schultz, Marcus J.; Schuurman, Alex; Sigaloff, Kim; Smit, Marry; Stijnis, Cornelis S.; Stilma, Willemke; Teunissen, Charlotte; Thoral, Patrick; Tsonas, Anissa; van der Valk, Marc; Veelo, Denise; de Vries, Heder; van Vugt, Michèle; Wouters, Dorien; Minnaar, René P.; Kromhout, Adrie; van Uffelen, Kees W. J.; Wolterman, Ruud A.; Roberts, Genevieve; Park, Danny; Ball, Catherine A.; Coignet, Marie; McCurdy, Shannon; Knight, Spencer; Partha, Raghavendran; Rhead, Brooke; Zhang, Miao; Berkowitz, Nathan; Gaddis, Michael; Noto, Keith; Ruiz, Luong; Pavlovic, Milos; Hong, Eurie L.; Rand, Kristin; Girshick, Ahna; Guturu, Harendra; Baltzell, Asher Haug; Rahmouni, Souad; Guntz, Julien; Beguin, Yves; Pigazzini, Sara; Nkambule, Lindokuhle; Bouysran, Youssef; Busson, Adeline; Peyrassol, Xavier; Wilkin, Françoise; Pichon, Bruno; Smits, Guillaume; Vandernoot, Isabelle; Goffard, Jean-Christophe; Georges, Michel; Moutschen, Michel; Misset, Benoit; Darcis, Gilles; Guiot, Julien; Jadot, Laurent; Azarzar, Samira; Dellot, Patricia; Gofflot, Stéphanie; Claassen, Sabine; Bertrand, Axelle; Parzibut, Gilles; Clarinval, Mathilde; Moermans, Catherine; Malaise, Olivier; El Kandoussi, Kamilia; Thonon, Raphaël; Huynen, Pascale; Mesdagh, Alyssia; Melo, Sofia; Jacques, Nicolas; Di Valentin, Emmanuel; Giroule, François; Collignon, Alice; Radermecker, Coraline; Lebrun, Marielle; Perée, Hélène; Latour, Samuel; Barada, Olivia; Sanchez, Judit; Josse, Claire; Boujemla, Bouchra; Meunier, Margot; Mariavelle, Emeline; Anania, Sandy; Gazon, Hélène; Juszczak, Danusia; Fadeur, Marjorie; Camby, Séverine; Meuris, Christelle; Thys, Marie; Jacques, Jessica; Henket, Monique; Léonard, Philippe; Frippiat, Frederic; Giot, Jean-Baptiste; Sauvage, Anne-Sophie; Von Frenckell, Christian; Mni, Myriam; Wéry, Marie; Staderoli, Alicia; Belhaj, Yasmine; Lambermont, Bernard; Morrison, David R.; Mooser, Vincent; Forgetta, Vincenzo; Li, Rui; Ghosh, Biswarup; Laurent, Laetitia; Belisle, Alexandre; Henry, Danielle; Abdullah, Tala; Adeleye, Olumide; Mamlouk, Noor; Kimchi, Nofar; Afrasiabi, Zaman; Rezk, Nardin; Vulesevic, Branka; Bouab, Meriem; Guzman, Charlotte; Petitjean, Louis; Tselios, Chris; Xue, Xiaoqing; Afilalo, Jonathan; Afilalo, Marc; Oliveira, Maureen; Brenner, Bluma; Brassard, Nathalie; Durand, Madeleine; Schurr, Erwin; Lepage, Pierre; Ragoussis, Jiannis; Auld, Daniel; Chassé, Michaël; Kaufmann, Daniel E.; Lathrop, G. Mark; Adra, Darin; Davis, Lea K.; Cox, Nancy J.; Below, Jennifer E.; Sealock, Julia M.; Faucon, Annika B.; Shuey, Megan M.; Polikowsky, Hannah G.; Petty, Lauren E.; Shaw, Douglas M.; Chen, Hung-Hsin; Zhu, Wanying; Ludwig, Kerstin U.; Schröder, Julia; Maj, Carlo; Rolker, Selina; Nöthen, Markus M.; Fazaal, Julia; Keitel, Verena; Jensen, Björn-Erik Ole; Feldt, Torsten; Kurth, Ingo; Marx, Nikolaus; Dreher, Michael; Pink, Isabell; Cornberg, Markus; Illig, Thomas; Lehmann, Clara; Schommers, Philipp; Augustin, Max; Rybniker, Jan; Knopp, Lisa; Eggermann, Thomas; Volland, Sonja; Altmüller, Janine; Berger, Marc M.; Brenner, Thorsten; Hinney, Anke; Witzke, Oliver; Bals, Robert; Herr, Christian; Ludwig, Nicole; Walter, Jörn; Fuchsberger, Christian; Pattaro, Cristian; De Grandi, Alessandro; Pramstaller, Peter; Emmert, David; Melotti, Roberto; Foco, Luisa; Mascalzoni, Deborah; Gögele, Martin; Domingues, Francisco; Hicks, Andrew; Gignoux, Christopher R.; Wicks, Stephen J.; Crooks, Kristy; Barnes, Kathleen C.; Daya, Michelle; Shortt, Jonathan; Rafaels, Nicholas; Chavan, Sameer; Goldstein, David B.; Kiryluk, Krzysztof; Sengupta, Soumitra; Chung, Wendy; Reilly, Muredach P.; Khan, Atlas; Wang, Chen; Povysil, Gundula; Bhardwaj, Nitin; Gharavi, Ali G.; Ionita-Laza, Iuliana; Shang, Ning; O’Byrne, Sheila M.; Nandakumar, Renu; Menon, Amritha; So, Yat S.; Hod, Eldad; Pendrick, Danielle; Kim, Han-Na; Park, Soo-Kyung; Kim, Hyung-Lae; Kang, Chang Kyung; Lee, Hyo-Jung; Song, Kyoung-Ho; Jae Yoon, Kyung; Paik, Nam-Jong; Seok, Woojin; Yoon, Heejun; Joo, Eun-Jeong; Chang, Yoosoo; Ryu, Seungho; Park, Wan Beom; Su Park, Jeong; Un Park, Kyoung; Ham, Sin Young; Jung, Jongtak; Kim, Eu Suk; Kim, Hong Bin; Ellinghaus, David; Degenhardt, Frauke; Cáceres, Mario; Juzenas, Simonas; Lenz, Tobias L.; Albillos, Agustín; Julià, Antonio; Heidecker, Bettina; Garcia, Federico; Kurth, Florian; Tran, Florian; Hanses, Frank; Zoller, Heinz; Holter, Jan C.; Fernández, Javier; Sander, Leif Erik; Rosenstiel, Philip; Koehler, Philipp; de Cid, Rafael; Asselta, Rosanna; Schreiber, Stefan; Hehr, Ute; Prati, Daniele; Baselli, Guido; Valenti, Luca; Bujanda, Luis; Banales, Jesus M.; Duga, Stefano; D’Amato, Mauro; Romero-Gómez, Manuel; Buti, Maria; Invernizzi, Pietro; Franke, Andre; Hov, Johannes R.; Karlsen, Tom H.; Folseraas, Trine; Maya-Miles, Douglas; Teles, Ana; Azuure, Clinton; Wacker, Eike Matthias; Uellendahl-Werth, Florian; ElAbd, Hesham; Arora, Jatin; Lerga-Jaso, Jon; Wienbrandt, Lars; Rühlemann, Malte Christoph; Wendorff, Mareike; Vadla, May Sissel; Lenning, Ole Bernt; Özer, Onur; Myhre, Ronny; Raychaudhuri, Soumya; Tanck, Anja; Gassner, Christoph; Hemmrich-Stanisak, Georg; Kässens, Jan; Figuera Basso, Maria E.; Schulzky, Martin; Wittig, Michael; Braun, Nicole; Wesse, Tanja; Albrecht, Wolfgang; Yi, Xiaoli; Ortiz, Aaron Blandino; Chercoles, Adolfo Garrido; Ruiz, Agustín; Mantovani, Alberto; Holten, Aleksander Rygh; Mayer, Alena; Cherubini, Alessandro; Protti, Alessandro; Aghemo, Alessio; Gerussi, Alessio; Ramirez, Alfredo; Braun, Alice; Barreira, Ana; Lleo, Ana; Kildal, Anders Benjamin; Glück, Andreas; Nolla, Anna Carreras; Latiano, Anna; Dyrhol-Riise, Anne Ma; Muscatello, Antonio; Voza, Antonio; Rando-Segura, Ariadna; Solier, Aurora; Karina, Banasik; Cortes, Beatriz; Mateos, Beatriz; Nafria-Jimenez, Beatriz; Schaefer, Benedikt; Bellinghausen, Carla; Ferrando, Carlos; Quereda, Carmen; Skurk, Carsten; Thibeault, Charlotte; Spinner, Christoph D.; Lange, Christoph; Hu, Cinzia; Cappadona, Claudio; Bianco, Cristiana; Sancho, Cristina; Lihaug Hoff, Dag Arne; Galimberti, Daniela; Jiménez, David; Pestaña, David; Toapanta, David; Azzolini, Elena; Scarpini, Elio; Helbig, Elisa T.; Urrechaga, Eloisa; Paraboschi, Elvezia Maria; Pontali, Emanuele; Reverter, Enric; Navas, Enrique; Arana, Eunate; Sánchez, Félix García; Ceriotti, Ferruccio; Malvestiti, Francesco; Mesonero, Francisco; Pezzoli, Gianni; Lamorte, Giuseppe; Neb, Holger; My, Ilaria; Hernández, Isabel; de Rojas, Itziar; Galván-Femenia, Iván; Heyckendorf, Jan; Rybniker, Jan; Badia, Joan Ramon; Schneider, Jochen; Goikoetxea, Josune; Kraft, Julia; Müller, Karl Erik; Gaede, Karoline I.; Garcia-Etxebarria, Koldo; Tonby, Kristian; Heggelund, Lars; Izquierdo-Sanchez, Laura; Sumoy, Lauro; Lippert, Lena J.; Terranova, Leonardo; Garbarino, Lucia; Téllez, Luis; Roade, Luisa; Ostadreza, Mahnoosh; Intxausti, Maider; Kogevinas, Manolis; Gutiérrez-Stampa, María A.; Vehreschild, Maria J. G. T.; Marquié, Marta; Castoldi, Massimo; Cecconi, Maurizio; Boada, Mercè; Seilmaier, Michael J.; Mazzocco, Michela; Rodríguez-Gandía, Miguel; Ayo, Natale Imaz; Blay, Natalia; Martínez, Nilda; Cornely, Oliver A.; Palmieri, Orazio; Tentorio, Paolo; Rodrigues, Pedro M.; España, Pedro P.; Hoffmann, Per; Bacher, Petra; Suwalski, Phillip; de Pablo, Raúl; Nieto, Rosa; Badalamenti, Salvatore; Ciesek, Sandra; Bombace, Sara; Wilfling, Sibylle; Brunak, Søren; Heilmann-Heimbach, Stefanie; Ripke, Stephan; Bahmer, Thomas; Landmesser, Ulf; Protzer, Ulrike; Rimoldi, Valeria; Skogen, Vegard; Andrade, Victor; Moreno, Victor; Poller, Wolfgang; Farre, Xavier; Wang, Xiaomin; Khodamoradi, Yascha; Karadeniz, Zehra; de Salazar, Adolfo; Palom, Adriana; Garcia-Fernandez, Alba-Estela; Blanco-Grau, Albert; Zanella, Alberto; Bandera, Alessandra; Nebel, Almut; Biondi, Andrea; Caballero-Garralda, Andrea; Gori, Andrea; Lind, Andreas; Fracanzani, Anna Ludovica; Peschuck, Anna; Pesenti, Antonio; de la Horra, Carmen; Milani, Chiara; Paccapelo, Cinzia; Angelini, Claudio; Cea, Cristina; Muñiz-Diaz, Eduardo; Sandoval, Elena; Calderón, Enrique J.; Solligård, Erik; Aziz, Fátima; Martinelli-Boneschi, Filippo; Peyvandi, Flora; Blasi, Francesco; Medrano, Francisco J.; Rodriguez-Frias, Francisco; Müller, Fredrik; Grasselli, Giacomo; Costantino, Giorgio; Cardamone, Giulia; Foti, Giuseppe; Matullo, Giuseppe; Kurihara, Hayato; Afset, Jan Egil; Damås, Jan Kristian; Ampuero, Javier; Martín, Javier; Erdmann, Jeanette; Bergan, Jonas; Goerg, Siegfried; Ferrusquía-Acosta, Jose; Quero, Jose Hernández; Delgado, Juan; Guerrero, Juan M.; Risnes, Kari; Bettini, Laura Rachele; Moreira, Leticia; Gustad, Lise Tuset; Santoro, Luigi; Scudeller, Luigia; Riveiro-Barciela, Mar; Schaefer, Marco; Carrabba, Maria; Valsecchi, Maria G.; Hernandez-Tejero, María; Acosta-Herrera, Marialbert; D’Angiò, Mariella; Baldini, Marina; Cazzaniga, Marina; Ciccarelli, Michele; Bocciolone, Monica; Miozzo, Monica; Chueca, Natalia; Montano, Nicola; Faverio, Paola; Preatoni, Paoletta; Bonfanti, Paolo; Omodei, Paolo; Castro, Pedro; Ferrer, Ricard; Gualtierotti, Roberta; Gallego-Durán, Rocío; Morilla, Rubén; Haider, Sammra; Marsal, Sara; Aneli, Serena; Pelusi, Serena; Bosari, Silvano; Aliberti, Stefano; Dudman, Susanne; Zheng, Tenghao; Pumarola, Tomas; Cejudo, Trinidad Gonzalez; Monzani, Valter; Friaza, Vicente; Peter, Wolfgang; Dopazo, Ximo; Duga, Stefano; May, Sandra; Grimsrud, Marit M.; Gudbjartsson, Daniel F.; Stefansson, Kari; Sulem, Patrick; Sveinbjornsson, Gardar; Melsted, Pall; Norddahl, Gudmundur; Swerford Moore, Kristjan Helgi; Thorsteinsdottir, Unnur; Holm, Hilma; Alarcón-Riquelme, Marta E.; Bernardo, David; Martínez-Bueno, Manuel; Rello, Silvia Rojo; Magi, Reedik; Milani, Lili; Metspalu, Andres; Laisk, Triin; Läll, Kristi; Lepamets, Maarja; Esko, Tõnu; Reimann, Ene; Naaber, Paul; Laane, Edward; Pesukova, Jaana; Peterson, Pärt; Kisand, Kai; Tabri, Jekaterina; Allos, Raili; Hensen, Kati; Starkopf, Joel; Ringmets, Inge; Tamm, Anu; Kallaste, Anne; Alavere, Helene; Metsalu, Kristjan; Puusepp, Mairo; Kristiansson, Kati; Koskelainen, Sami; Perola, Markus; Donner, Kati; Kivinen, Katja; Palotie, Aarno; Palotie, Aarno; Rivolta, Carlo; Bochud, Pierre-Yves; Bibert, Stéphanie; Boillat, Noémie; Nussle, Semira Gonseth; Albrich, Werner; Quinodoz, Mathieu; Kamdar, Dhryata; Suh, Noémie; Neofytos, Dionysios; Erard, Véronique; Voide, Cathy; Bochud, P. Y.; Rivolta, C.; Bibert, S.; Quinodoz, M.; Kamdar, D.; Neofytos, D.; Erard, V.; Voide, C.; Friolet, R.; Vollenweider, P.; Pagani, J. L.; Oddo, M.; zu Bentrup, F. Meyer; Conen, A.; Clerc, O.; Marchetti, O.; Guillet, A.; Guyat-Jacques, C.; Foucras, S.; Rime, M.; Chassot, J.; Jaquet, M.; Viollet, R. Merlet; Lannepoudenx, Y.; Portopena, L.; Desgranges, F.; Filippidis, P.; Guéry, B.; Haefliger, D.; Kampouri, E. E.; Manuel, O.; Munting, A.; Papadimitriou-Olivgeris, M.; Regina, J.; Rochat-Stettler, L.; Suttels, V.; Tadini, E.; Tschopp, J.; Van Singer, M.; Viala, B.; Boillat-Blanco, N.; Brahier, T.; Hügli, O.; Meuwly, J. Y.; Pantet, O.; Nussle, S. Gonseth; Bochud, M.; D’Acremont, V.; Younes, S. Estoppey; Albrich, W. C.; Suh, N.; Cerny, A.; O’Mahony, L.; von Mering, C.; Bochud, P. Y.; Frischknecht, M.; Kleger, G.-R.; Filipovic, M.; Kahlert, C. R.; Wozniak, H.; Negro, T. Rochat; Pugin, J.; Bouras, K.; Knapp, C.; Egger, T.; Perret, A.; Montillier, P.; di Bartolomeo, C.; Barda, B.; de Cid, Rafael; Carreras, Anna; Moreno, Victor; Galván-Femenía, Iván; Blay, Natalia; Farré, Xavier; Sumoy, Lauro; Cortés, Beatriz; Mercader, Josep Maria; Guindo-Martinez, Marta; Torrents, David; Garcia-Aymerich, Judith; Castaño-Vinyals, Gemma; Dobaño, Carlota; Gori, Marco; Renieri, Alessandra; Mondelli, Mario Umberto; Castelli, Francesco; Vaghi, Massimo; Rusconi, Stefano; Montagnani, Francesca; Bargagli, Elena; Franchi, Federico; Mazzei, Maria Antonietta; Cantarini, Luca; Tacconi, Danilo; Feri, Marco; Scala, Raffaele; Spargi, Genni; Nencioni, Cesira; Bandini, Maria; Caldarelli, Gian Piero; Spagnesi, Maurizio; Canaccini, Anna; Ognibene, Agostino; D’Arminio Monforte, Antonella; Girardis, Massimo; Antinori, Andrea; Francisci, Daniela; Schiaroli, Elisabetta; Scotton, Pier Giorgio; Panese, Sandro; Scaggiante, Renzo; Monica, Matteo Della; Capasso, Mario; Fiorentino, Giuseppe; Castori, Marco; Aucella, Filippo; Di Biagio, Antonio; Masucci, Luca; Valente, Serafina; Mandalà, Marco; Zucchi, Patrizia; Giannattasio, Ferdinando; Coviello, Domenico A.; Mussini, Cristina; Bosio, Giancarlo; Tavecchia, Luisa; Crotti, Lia; Rizzi, Marco; La Rovere, Maria Teresa; Sarzi-Braga, Simona; Bussotti, Maurizio; Ravaglia, Sabrina; Artuso, Rosangela; Perrella, Antonio; Romani, Davide; Bergomi, Paola; Catena, Emanuele; Vincenti, Antonella; Ferri, Claudio; Grassi, Davide; Pessina, Gloria; Tumbarello, Mario; Di Pietro, Massimo; Sabrina, Ravaglia; Luchi, Sauro; Barbieri, Chiara; Acquilini, Donatella; Andreucci, Elena; Paciosi, Francesco; Segala, Francesco Vladimiro; Tiseo, Giusy; Falcone, Marco; Lista, Mirjam; Poscente, Monica; De Vivo, Oreste; Petrocelli, Paola; Guarnaccia, Alessandra; Baroni, Silvia; Perticaroli, Valentina; Furini, Simone; Dei, Simona; Benetti, Elisa; Picchiotti, Nicola; Sanarico, Maurizio; Ceri, Stefano; Pinoli, Pietro; Raimondi, Francesco; Biscarini, Filippo; Stella, Alessandra; Bergomi, Mattia; Zguro, Kristina; Capitani, Katia; Tanfoni, Marco; Fallerini, Chiara; Daga, Sergio; Baldassarri, Margherita; Fava, Francesca; Frullanti, Elisa; Valentino, Floriana; Doddato, Gabriella; Giliberti, Annarita; Tita, Rossella; Amitrano, Sara; Bruttini, Mirella; Croci, Susanna; Meloni, Ilaria; Mencarelli, Maria Antonietta; Lo Rizzo, Caterina; Pinto, Anna Maria; Beligni, Giada; Tommasi, Andrea; Di Sarno, Laura; Palmieri, Maria; Carriero, Miriam Lucia; Alaverdian, Diana; Iuso, Nicola; Inchingolo, Gabriele; Busani, Stefano; Bruno, Raffaele; Vecchia, Marco; Belli, Mary Ann; Mantovani, Stefania; Ludovisi, Serena; Quiros-Roldan, Eugenia; Antoni, Melania Degli; Zanella, Isabella; Siano, Matteo; Emiliozzi, Arianna; Fabbiani, Massimiliano; Rossetti, Barbara; Zanelli, Giacomo; Bergantini, Laura; D’Alessandro, Miriana; Cameli, Paolo; Bennet, David; Anedda, Federico; Marcantonio, Simona; Scolletta, Sabino; Guerrini, Susanna; Conticini, Edoardo; Frediani, Bruno; Spertilli, Chiara; Donati, Alice; Guidelli, Luca; Corridi, Marta; Croci, Leonardo; Piacentini, Paolo; Desanctis, Elena; Cappelli, Silvia; Verzuri, Agnese; Anemoli, Valentina; Pancrazi, Alessandro; Lorubbio, Maria; Merlini, Esther; Miraglia, Federica Gaia; Venturelli, Sophie; Cossarizza, Andrea; Vergori, Alessandra; Gabrieli, Arianna; Riva, Agostino; Paciosi, Francesco; Andretta, Francesca; Gatti, Francesca; Parisi, Saverio Giuseppe; Baratti, Stefano; Piscopo, Carmelo; Russo, Roberta; Andolfo, Immacolata; Iolascon, Achille; Carella, Massimo; Merla, Giuseppe; Squeo, Gabriella Maria; Raggi, Pamela; Marciano, Carmen; Perna, Rita; Bassetti, Matteo; Sanguinetti, Maurizio; Giorli, Alessia; Salerni, Lorenzo; Parravicini, Pierpaolo; Menatti, Elisabetta; Trotta, Tullio; Coiro, Gabriella; Lena, Fabio; Martinelli, Enrico; Mancarella, Sandro; Gabbi, Chiara; Maggiolo, Franco; Ripamonti, Diego; Bachetti, Tiziana; Suardi, Claudia; Parati, Gianfranco; Bottà, Giordano; Di Domenico, Paolo; Rancan, Ilaria; Bianchi, Francesco; Colombo, Riccardo; van Heel, David A.; Hunt, Karen A.; Trembath, Richard C.; Huang, Qin Qin; Martin, Hilary C.; Mason, Dan; Trivedi, Bhavi; Wright, John; Finer, Sarah; Griffiths, Christopher J.; Akhtar, Shaheen; Anwar, Mohammad; Arciero, Elena; Ashraf, Samina; Breen, Gerome; Chung, Raymond; Curtis, Charles J.; Chowdhury, Maharun; Colligan, Grainne; Deloukas, Panos; Durham, Ceri; Finer, Sarah; Griffiths, Chris; Huang, Qin Qin; Hurles, Matt; Hunt, Karen A.; Hussain, Shapna; Islam, Kamrul; Khan, Ahsan; Khan, Amara; Lavery, Cath; Lee, Sang Hyuck; Lerner, Robin; MacArthur, Daniel; MacLaughlin, Bev; Martin, Hilary; Mason, Dan; Miah, Shefa; Newman, Bill; Safa, Nishat; Tahmasebi, Farah; Trembath, Richard C.; Trivedi, Bhavi; van Heel, David A.; Wright, John; Smith, Albert V.; Boughton, Andrew P.; Li, Kevin W.; LeFaive, Jonathon; Annis, Aubrey; Jannes, Cinthia E.; Krieger, Jose E.; Pereira, Alexandre C.; Velho, Mariliza; Marques, Emanuelle; Lima, Isabella Ramos; Tada, Mauricio Teruo; Valino, Karina; McCarthy, Mark; Rosenberger, Carrie; Lee, Jong Eun; Chang, Diana; Hammer, Christian; Hunkapiller, Julie; Mahajan, Anubha; Pendergrass, Sarah; Sucheston-Campbell, Lara; Yaspan, Brian; Lee, Hyun Soo; Shin, Eunsoon; Jang, Hye Yoon; Kim, Sunmie; Kym, Sungmin; Kim, Yeon-Sook; Jeong, Hyeongseok; Kwon, Ki Tae; Kim, Shin-Woo; Kim, Jin Yong; Jang, Young Rock; Kim, Hyun ah; Lee, Ji Yeon; Lee, Jeong Eun; Lee, Shinwon; Choe, Kang-Won; Kang, Yu Min; Jee, Sun Ha; Jung, Keum Ji; Parikh, Victoria; Ashley, Euan; Wheeler, Matthew; Rivas, Manuel; Bustamante, Carlos; Pinksy, Benjamin; Febbo, Phillip; Farh, Kyle; Schroth, Gary P.; deSouza, Francis; Dalton, Karen; Christle, Jeff; Deboever, Christopher; Szalma, Sándor; Tanigawa, Yosuke; Rubinacci, Simone; Delaneau, Olivier; Gorzynski, John; de Jong, Hannah; Sutton, Shirley; Youlton, Nathan; Joshi, Ruchi; Jimenez-Morales, David; Hughes, Christopher; Amar, David; Ioannidis, Alex; Hershman, Steve; Kirillova, Anna; Seo, Kinya; Huang, Yong; Shoura, Massa; Hammond, Nathan; Watson, Nathaniel; Raja, Archana; Huang, ChunHong; Sahoo, Malaya; Wang, Hannah; Zhen, Jimmy; Rakitko, Alexander; Ilinsky, Valery; Yermakovich, Danat; Popov, Iaroslav; Chernitsov, Alexander; Kovalenko, Elena; Krasnenko, Anna; Plotnikov, Nikolay; Stetsenko, Ivan; Kim, Anna; Cirulli, Elizabeth T.; Schiabor Barrett, Kelly M.; Bolze, Alexandre; White, Simon; Washington, Nicole L.; Lu, James T.; Riffle, Stephen; Tanudjaja, Francisco; Wang, Xueqing; Ramirez, Jimmy M.; Leonetti, Nicole; Sandoval, Efren; Neveux, Iva; Dabe, Shaun; Grzymski, Joseph J.; Esteban Miñano, Juan Ignacio; Aguirre, Luis A.; López-Collazo, Eduardo; de la Mata Pazos, Manuel; Cerrato, Luciano; Folkersen, Lasse; Lozano-Rodríguez, Roberto; Avendaño-Ortiz, José; Arcos, Verónica Terrón; Montalbán-Hernández, Karla Marina; Quiroga, Jaime Valentín; Pascual-Iglesias, Alejandro; Maroun-Eid, Charbel; Martín-Quirós, Alejandro; Namkoong, Ho; Okada, Yukinori; Imoto, Seiya; Katayama, Kazuhiko; Fukunaga, Koichi; Kitagawa, Yuko; Sato, Toshiro; Hasegawa, Naoki; Kumanogoh, Atsushi; Kimura, Akinori; Ai, Masumi; Tokunaga, Katsushi; Kanai, Takanori; Miyano, Satoru; Ogawa, Seishi; Edahiro, Ryuya; Sonehara, Kyuto; Shirai, Yuya; Kanai, Masahiro; Ishii, Makoto; Kabata, Hiroki; Masaki, Katsunori; Kamata, Hirofumi; Ikemura, Shinnosuke; Chubachi, Shotaro; Okamori, Satoshi; Terai, Hideki; Tanaka, Hiromu; Morita, Atsuho; Lee, Ho; Asakura, Takanori; Sasaki, Junichi; Morisaki, Hiroshi; Uwamino, Yoshifumi; Nanki, Kosaku; Mikami, Yohei; Tomono, Kazunori; Kato, Kazuto; Matsuda, Fumihiko; Takahashi, Meiko; Hizawa, Nobuyuki; Takeda, Yoshito; Hirata, Haruhiko; Shiroyama, Takayuki; Miyawaki, Satoru; Suzuki, Ken; Maeda, Yuichi; Nii, Takuro; Noda, Yoshimi; Niitsu, Takayuki; Adachi, Yuichi; Enomoto, Takatoshi; Amiya, Saori; Hara, Reina; Takahashi, Kunihiko; Anzai, Tatsuhiko; Hasegawa, Takanori; Ito, Satoshi; Koike, Ryuji; Endo, Akifumi; Uchimura, Yuji; Miyazaki, Yasunari; Honda, Takayuki; Tateishi, Tomoya; Tohda, Shuji; Ichimura, Naoya; Sonobe, Kazunari; Sassa, Chihiro; Nakajima, Jun; Nannya, Yasuhito; Omae, Yosuke; Takahashi, Kazuhisa; Harada, Norihiro; Hiki, Makoto; Takagi, Haruhi; Nakamura, Ai; Tagaya, Etsuko; Kawana, Masatoshi; Arimura, Ken; Ishiguro, Takashi; Takayanagi, Noboru; Isono, Taisuke; Takaku, Yotaro; Takano, Kenji; Anan, Ryusuke; Nakajima, Yukiko; Nakano, Yasushi; Nishio, Kazumi; Ueda, Soichiro; Hayashi, Reina; Tateno, Hiroki; Hase, Isano; Yoshida, Shuichi; Suzuki, Shoji; Mitamura, Keiko; Saito, Fumitake; Ueda, Tetsuya; Azuma, Masanori; Nagasaki, Tadao; Yasui, Yoshinori; Hasegawa, Yoshinori; Mutoh, Yoshikazu; Yoshiyama, Takashi; Shoko, Tomohisa; Kojima, Mitsuaki; Adachi, Tomohiro; Ishikawa, Motonao; Takahashi, Kenichiro; Watanabe, Kazuyoshi; Manabe, Tadashi; Ito, Fumimaro; Fukui, Takahiro; Funatsu, Yohei; Koh, Hidefumi; Hirai, Yoshihiro; Kawashima, Hidetoshi; Narita, Atsuya; Niwa, Kazuki; Sekikawa, Yoshiyuki; Saito, Fukuki; Yoshiya, Kazuhisa; Yoshihara, Tomoyuki; Suzuki, Yusuke; Nakayama, Sohei; Masuzawa, Keita; Nishi, Koichi; Nishitsuji, Masaru; Tani, Maiko; Inoue, Takashi; Hirano, Toshiyuki; Kobayashi, Keigo; Miyazawa, Naoki; Kimura, Yasuhiro; Sado, Reiko; Ogura, Takashi; Kitamura, Hideya; Murohashi, Kota; Nakachi, Ichiro; Baba, Rie; Arai, Daisuke; Fuke, Satoshi; Saito, Hiroshi; Kuwahara, Naota; Fujiwara, Akiko; Okada, Takenori; Baba, Tomoya; Noda, Junya; Mashimo, Shuko; Yagi, Kazuma; Shiomi, Tetsuya; Hashiguchi, Mizuha; Odani, Toshio; Mochimaru, Takao; Oyamada, Yoshitaka; Mori, Nobuaki; Izumi, Namiki; Nagata, Kaoru; Taki, Reiko; Murakami, Koji; Yamada, Mitsuhiro; Sugiura, Hisatoshi; Hayashi, Kentaro; Shimizu, Tetsuo; Gon, Yasuhiro; Fujitani, Shigeki; Tsuchida, Tomoya; Yoshida, Toru; Kagaya, Takashi; Kita, Toshiyuki; Sakagami, Satoru; Kimizuka, Yoshifumi; Kawana, Akihiko; Nakamura, Yoshihiko; Ishikura, Hiroyasu; Takata, Tohru; Kikuchi, Takahide; Taniyama, Daisuke; Nakamura, Morio; Kodama, Nobuhiro; Kaneyama, Yasunari; Maeda, Shunsuke; Nagasaki, Yoji; Okamoto, Masaki; Ishihara, Sayoko; Ito, Akihiro; Chihara, Yusuke; Takeuchi, Mayumi; Onoi, Keisuke; Hashimoto, Naozumi; Wakahara, Keiko; Ando, Akira; Masuda, Makoto; Wakabayashi, Aya; Watanabe, Hiroki; Sageshima, Hisako; Nakada, Taka-Aki; Abe, Ryuzo; Shimada, Tadanaga; Kawamura, Kodai; Ichikado, Kazuya; Nishiyama, Kenta; Yamasaki, Masaki; Hashimoto, Satoru; Kusaka, Yu; Ohba, Takehiko; Isogai, Susumu; Takada, Minoru; Kanda, Hidenori; Komase, Yuko; Sano, Fumiaki; Asano, Koichiro; Oguma, Tsuyoshi; Harada, Masahiro; Takahashi, Takeshi; Shibusawa, Takayuki; Abe, Shinji; Kono, Yuta; Togashi, Yuki; Izumo, Takehiro; Inomata, Minoru; Awano, Nobuyasu; Ogawa, Shinichi; Ogata, Tomouki; Ishihara, Shoichiro; Kanehiro, Arihiko; Ozaki, Shinji; Fuchimoto, Yasuko; Kitagawa, Yuichiro; Yoshida, Shozo; Ogura, Shinji; Nishiyama, Kei; Yoshida, Kousuke; Beppu, Satoru; Fukuyama, Satoru; Eriguchi, Yoshihiro; Yonekawa, Akiko; Inoue, Yoshiaki; Yamagata, Kunihiro; Chiba, Shigeru; Narumoto, Osamu; Nagai, Hideaki; Ooshima, Nobuharu; Motegi, Mitsuru; Sagara, Hironori; Tanaka, Akihiko; Ohta, Shin; Shibata, Yoko; Tanino, Yoshinori; Sato, Yuki; Yamada, Yuichiro; Hashino, Takuya; Shinoki, Masato; Iwagoe, Hajime; Imamura, Tomonori; Umeda, Akira; Shimada, Hisato; Endo, Mayu; Hayashi, Shinichi; Takahashi, Mai; Nakano, Shigefumi; Yatomi, Masakiyo; Maeno, Toshitaka; Ishii, Tomoo; Utsugi, Mitsuyoshi; Ono, Akihiro; Kanaoka, Kensuke; Ihara, Shoichi; Komuta, Kiyoshi; Franke, Lude; Boezen, Marike; Claringbould, Annique; Lopera, Esteban; Warmerdam, Robert; Vonk, Judith. M.; van Blokland, Irene; Lanting, Pauline; Ori, Anil P. S.; Obeidat, Ma’en; Hernández Cordero, Ana I.; Sin, Don D.; Bossé, Yohan; Joubert, Philippe; Hao, Ke; Nickle, David; Timens, Wim; van den Berge, Maarten; Feng, Yen-Chen Anne; Mercader, Josep; Weiss, Scott T.; Karlson, Elizabeth W.; Smoller, Jordan W.; Murphy, Shawn N.; Meigs, James B.; Woolley, Ann E.; Green, Robert C.; Perez, Emma F.; Wolford, Brooke; Zöllner, Sebastian; Wang, Jiongming; Beck, Andrew; Sloofman, Laura G.; Ascolillo, Steven; Sebra, Robert P.; Collins, Brett L.; Levy, Tess; Sealfon, Stuart C.; Jordan, Daniel M.; Thompson, Ryan C.; Gettler, Kyle; Chaudhary, Kumardeep; Belbin, Gillian M.; Preuss, Michael; Hoggart, Clive; Choi, Sam; Underwood, Slayton J.; Salib, Irene; Britvan, Bari; Keller, Katherine; Tang, Lara; Peruggia, Michael; Hiester, Liam L.; Niblo, Kristi; Aksentijevich, Alexandra; Labkowsky, Alexander; Karp, Avromie; Zlatopolsky, Menachem; Zyndorf, Marissa; Charney, Alexander W.; Beckmann, Noam D.; Schadt, Eric E.; Abul-Husn, Noura S.; Cho, Judy H.; Itan, Yuval; Kenny, Eimear E.; Loos, Ruth J. F.; Nadkarni, Girish N.; Do, Ron; O’Reilly, Paul; Huckins, Laura M.; Ferreira, Manuel A. R.; Abecasis, Goncalo R.; Leader, Joseph B.; Cantor, Michael N.; Justice, Anne E.; Carey, Dave J.; Chittoor, Geetha; Josyula, Navya Shilpa; Kosmicki, Jack A.; Horowitz, Julie E.; Baras, Aris; Gass, Matthew C.; Yadav, Ashish; Mirshahi, Tooraj; Jan Hottenga, Jouke; Bartels, Meike; de Geus, Eco J. C.; Nivard, Michel G.; Verma, Anurag; Ritchie, Marylyn D.; Rader, Daniel; Li, Binglan; Verma, Shefali S.; Lucas, Anastasia; Bradford, Yuki; Zara, Federico; Salpietro, Vincenzo; Scala, Marcello; Iacomino, Michele; Scudieri, Paolo; Bocciardi, Renata; Minetti, Carlo; Riva, Antonella; Vari, Maria Stella; Rahier, Jean-François; Giorgio, Elisa; Carli, Diana; Louis, Edouad; Bulik, Cynthia M.; Landén, Mikael; Brusco, Alfredo; Ferrero, Giovanni Battista; Madia, Francesca; Fundín, Bengt; Ismail, Said I.; Saad, Chadi; Al-Sarraj, Yaser; Badji, Radja Messai; Al-Muftah, Wadha; Al Thani, Asma; Afifi, Nahla; Klovins, Janis; Rovite, Vita; Rescenko, Raimonds; Peculis, Raitis; Ustinova, Monta; Zeberg, Hugo; Frithiof, Robert; Hultström, Michael; Lipcsey, Miklos; Johnson, Ruth; Geschwind, Daniel H.; Freimer, Nelson; Butte, Manish J.; Geschwind, Daniel H.; Pasaniuc, Bogdan; Ding, Yi; Chiu, Alec; Chang, Timothy S.; Boutros, Paul; Moutsianas, Loukas; Caulfield, Mark J.; Scott, Richard H.; Walker, Susan; Stuckey, Alex; Odhams, Christopher A.; Rhodes, Daniel; Fowler, Tom; Rendon, Augusto; Chan, Georgia; Arumugam, Prabhu; Karczewski, Konrad J.; Wilson, Daniel J.; Spencer, Chris A.; Crook, Derrick W.; Wyllie, David H.; O’Connell, Anne Marie; Atkinson, Elizabeth G.; Kanai, Masahiro; Tsuo, Kristin; Baya, Nikolas; Turley, Patrick; Gupta, Rahul; Walters, Raymond K.; Palmer, Duncan S.; Sarma, Gopal; Solomonson, Matthew; Cheng, Nathan; Lu, Wenhan; Churchhouse, Claire; Goldstein, Jacqueline I.; King, Daniel; Seed, Cotton; Daly, Mark J.; Neale, Benjamin M.; Bryant, Sam; Satterstrom, F. Kyle; Band, Gavin; Earle, Sarah G.; Lin, Shang-Kuan; Arning, Nicolas; Armstrong, Jacob; Rudkin, Justine K.; Callier, Shawneequa; Bryant, Sam; Cusick, Caroline; Soranzo, Nicole; Zhao, Jing Hua; Danesh, John; Di Angelantonio, Emanuele; Butterworth, Adam S.; Sun, Yan V.; Huffman, Jennifer E.; Cho, Kelly; O’Donnell, Christopher J.; Tsao, Phil; Gaziano, J. Michael; Peloso, Gina; Ho, Yuk-Lam; Mian, Michael; Scaggiante, Federica; Chang, Xiao; Glessner, Joseph R.; Hakonarson, Hakon; McGuigan, Peter J.; Prockter Moore, Luke Stephen; Vizcaychipi, Marcela Paola; Hall, Kathryn; Campbell, Andy; Nichol, Ailstair; Ward, Geraldine; Page, Valerie Joan; Semple, Malcolm G.; Adeniji, Kayode; Agranoff, Daniel; Agwuh, Ken; Ail, Dhiraj; Aldera, Erin L.; Alegria, Ana; Angus, Brian; Ashish, Abdul; Atkinson, Dougal; Bari, Shahedal; Barlow, Gavin; Barnass, Stella; Barrett, Nicholas; Bassford, Christopher; Basude, Sneha; Baxter, David; Beadsworth, Michael; Bernatoniene, Jolanta; Berridge, John; Best, Nicola; Bothma, Pieter; Chadwick, David; Brittain-Long, Robin; Bulteel, Naomi; Burden, Tom; Burtenshaw, Andrew; Caruth, Vikki; Chambler, Duncan; Chee, Nigel; Child, Jenny; Chukkambotla, Srikanth; Clark, Tom; Collini, Paul; Cosgrove, Catherine; Cupitt, Jason; Cutino-Moguel, Maria-Teresa; Dark, Paul; Dawson, Chris; Dervisevic, Samir; Donnison, Phil; Douthwaite, Sam; Drummond, Andrew; DuRand, Ingrid; Dushianthan, Ahilanadan; Dyer, Tristan; Evans, Cariad; Eziefula, Chi; Fegan, Christopher; Finn, Adam; Fullerton, Duncan; Garg, Sanjeev; Garg, Atul; Gkrania-Klotsas, Effrossyni; Godden, Jo; Goldsmith, Arthur; Graham, Clive; Hardy, Elaine; Hartshorn, Stuart; Harvey, Daniel; Havalda, Peter; Hawcutt, Daniel B.; Hobrok, Maria; Hodgson, Luke; Hormis, Anil; Jacobs, Michael; Jain, Susan; Jennings, Paul; Kaliappan, Agilan; Kasipandian, Vidya; Kegg, Stephen; Kelsey, Michael; Kendall, Jason; Kerrison, Caroline; Kerslake, Ian; Koch, Oliver; Koduri, Gouri; Koshy, George; Laha, Shondipon; Laird, Steven; Larkin, Susan; Leiner, Tamas; Lillie, Patrick; Limb, James; Linnett, Vanessa; Little, Jeff; Lyttle, Mark; MacMahon, Michael; MacNaughton, Emily; Mankregod, Ravish; Masson, Huw; Matovu, Elijah; McCullough, Katherine; McEwen, Ruth; Meda, Manjula; Mills, Gary H.; Minton, Jane; Ward, Karl; Mirfenderesky, Mariyam; Mohandas, Kavya; Mok, Quen; Moon, James; Moore, Elinoor; Morgan, Patrick; Morris, Craig; Mortimore, Katherine; Moses, Samuel; Mpenge, Mbiye; Mulla, Rohinton; Murphy, Michael; Nagel, Megan; Nagarajan, Thapas; Nelson, Mark; O’Shea, Matthew K.; Otahal, Igor; Ostermann, Marlies; Pais, Mark; Panchatsharam, Selva; Papakonstantinou, Danai; Paraiso, Hassan; Patel, Brij; Pattison, Natalie; Pepperell, Justin; Peters, Mark; Phull, Mandeep; Pintus, Stefania; Pooni, Jagtur Singh; Post, Frank; Price, David; Prout, Rachel; Rae, Nikolas; Reschreiter, Henrik; Reynolds, Tim; Richardson, Neil; Roberts, Mark; Roberts, Devender; Rose, Alistair; Rousseau, Guy; Ryan, Brendan; Saluja, Taranprit; Shah, Aarti; Shanmuga, Prad; Sharma, Anil; Shawcross, Anna; Sizer, Jeremy; Shankar-Hari, Manu; Smith, Richard; Snelson, Catherine; Spittle, Nick; Staines, Nikki; Stambach, Tom; Stewart, Richard; Subudhi, Pradeep; Szakmany, Tamas; Tatham, Kate; Thomas, Jo; Thompson, Chris; Thompson, Robert; Tridente, Ascanio; Tupper-Carey, Darell; Twagira, Mary; Ustianowski, Andrew; Vallotton, Nick; Vincent-Smith, Lisa; Visuvanathan, Shico; Vuylsteke, Alan; Waddy, Sam; Wake, Rachel; Walden, Andrew; Welters, Ingeborg; Whitehouse, Tony; Whittaker, Paul; Whittington, Ashley; Papineni, Padmasayee; Wijesinghe, Meme; Williams, Martin; Wilson, Lawrence; Cole, Sarah; Winchester, Stephen; Wiselka, Martin; Wolverson, Adam; Wooton, Daniel G.; Workman, Andrew; Yates, Bryan; Young, Peter; Beale, Rupert; Bretherick, Andrew D.; Clohisey, Sara; Fourman, Max Head; Furniss, James; Gountouna, Elvina; Grimes, Graeme; Haley, Chris; Harrison, David; Hayward, Caroline; Keating, Sean; Klaric, Lucija; Klenerman, Paul; Law, Andy; Meynert, Alison M.; Millar, Jonathan; Pairo-Castineira, Erola; Parkinson, Nicholas; Ponting, Chris P.; Porteous, David J.; Rawlik, Konrad; Richmond, Anne; Rowan, Kathy; Russell, Clark D.; Scott, Richard H.; Shen, Xia; Shih, Barbara; Tenesa, Albert; Vitart, Veronique; Wang, Bo; Wilson, James F.; Wu, Yang; Yang, Jian; Yang, Zhijian; Zechner, Marie; Zhai, Ranran; Zheng, Chenqing; Norman, Lisa; Pius, Riinu; Drake, Thomas M.; Fairfield, Cameron J.; Knight, Stephen R.; Mclean, Kenneth A.; Murphy, Derek; Shaw, Catherine A.; Dalton, Jo; Girvan, Michelle; Saviciute, Egle; Roberts, Stephanie; Harrison, Janet; Marsh, Laura; Connor, Marie; Halpin, Sophie; Jackson, Clare; Gamble, Carrol; Leeming, Gary; Law, Andrew; Wham, Murray; Hendry, Ross; Scott-Brown, James; Begg, Colin; Hinds, Charles; Wai Ho, Antonia Ying; Horby, Peter W.; Knight, Julian; Ling, Lowell; Maslove, David; McAuley, Danny; Montgomery, Hugh; Nichol, Alistair; Openshaw, Peter J. M.; Semple, Malcolm G.; Shankar-Hari, Manu; Summers, Charlotte; Walsh, Timothy; Armstrong, Lisa; Bates, Hayley; Dooks, Emma; Farquhar, Fiona; Hairsine, Brigid; McParland, C.; Packham, Sophie; Alldis, Zoe; Astin-Chamberlain, Raine; Bibi, Fatima; Biddle, Jack; Blow, Sarah; Bolton, Matthew; Borra, Catherine; Bowles, Ruth; Burton, Maudrian; Choudhury, Yasmin; Collier, David; Cox, Amber; Easthope, Amy; Ebano, Patrizia; Fotiadis, Stavros; Gurasashvili, Jana; Halls, Rosslyn; Hartridge, Pippa; Kallon, Delordson; Kassam, Jamila; Lancoma-Malcolm, Ivone; Matharu, Maninderpal; May, Peter; Mitchelmore, Oliver; Newman, Tabitha; Patel, Mital; Pheby, Jane; Pinzuti, Irene; Prime, Zoe; Prysyazhna, Oleksandra; Shiel, Julian; Taylor, Melanie; Tierney, Carey; Wood, Suzanne; Zak, Anne; Zongo, Olivier; Forsey, Miranda; Kaliappan, Agilan; Nicholson, Anne; Riches, Joanne; Vertue, Mark; Wasson, Christopher; Finn, Stephanie; Green, Jackie; Collins, Erin; King, Bernadette; Grauslyte, Lina; Hussain, Musarat; Phull, Mandeep; Pogreban, Tatiana; Rosaroso, Lace; Salciute, Erika; Franke, George; Wong, Joanna; George, Aparna; Akeroyd, Louise; Bano, Shereen; Bromley, Matt; Gurr, Lucy; Lawton, Tom; Morgan, James; Sellick, Kirsten; Warren, Deborah; Wilkinson, Brian; McGowan, Janet; Ledgard, Camilla; Stacey, Amelia; Pye, Kate; Bellwood, Ruth; Bentley, Michael; Hobrok, Maria; Loosley, Ronda; McGuinness, Heather; Tench, Helen; Wolf-Roberts, Rebecca; Gibson, Sian; Lyle, Amanda; McNeela, Fiona; Radhakrishnan, Jayachandran; Hughes, Alistair; Ali, Asifa; Brady, Megan; Dale, Sam; Dance, Annalisa; Gledhill, Lisa; Greig, Jill; Hanson, Kathryn; Holdroyd, Kelly; Home, Marie; Kelly, Diane; Kitson, Ross; Matapure, Lear; Melia, Deborah; Mellor, Samantha; Nortcliffe, Tonicha; Pinnell, Jez; Robinson, Matthew; Shaw, Lisa; Shaw, Ryan; Thomis, Lesley; Wilson, Alison; Wood, Tracy; Bayo, Lee-Ann; Merwaha, Ekta; Ishaq, Tahira; Hanley, Sarah; Antcliffe, David; Banach, Dorota; Brett, Stephen; Coghlan, Phoebe; Fernandez, Ziortza; Gordon, Anthony; Rojo, Roceld; Arias, Sonia Sousa; Templeton, Maie; Jha, Rajeev; Krishnamurthy, Vinodh; Lim, Lai; Bi, Rehana; Scholefield, Barney; Ashton, Lydia; Williams, Alison; Cheyne, Claire; Saunderson, Anne; Allan, Angela; Anderson, Felicity; Kaye, Callum; Liew, Jade; Medhora, Jasmine; Scott, Teresa; Trumper, Erin; Botello, Adriana; Polgarova, Petra; Stroud, Katerina; Meaney, Eoghan; Jones, Megan; Ng, Anthony; Agrawal, Shruti; Pathan, Nazima; White, Deborah; Daubney, Esther; Elston, Kay; Parker, Robert; Reddy, Amie; Turner-Bone, Ian; Wilding, Laura; Harding, Peter; Jacob, Reni; Jones, Cathy; Denmade, Craig; Croft, Maria; White, Ian; Lim, Li; Griffin, Denise; Muchenje, Nycola; Mupudzi, Mcdonald; Partridge, Richard; Conyngham, Jo-Anna; Thomas, Rachel; Wright, Mary; Corral, Maria Alvarez; Bastion, Victoria; Clarke, Daphene; David, Beena; Kent, Harriet; Lorusso, Rachel; Lubimbi, Gamu; Murdoch, Sophie; Penacerrada, Melchizedek; Thomas, Alastair; Valentine, Jennifer; Vochin, Ana; Wulandari, Retno; Djeugam, Brice; Dawson, Joy; Garrioch, Sweyn; Tolson, Melanie; Aldridge, Jonathan; de Almeida Martins, Laura Gomes; Carungcong, Jaime; Beavis, Sarah; Dale, Katie; Gascoyne, Rachel; Hawes, Joanne; Pritchard, Kelly; Stevenson, Lesley; Whileman, Amanda; Cowley, Anne; Highgate, Judith; Crawley, Rikki; Crew, Abigail; Cunningham, Mishell; Daniels, Allison; Harrison, Laura; Hope, Susan; Inweregbu, Ken; Jones, Sian; Lancaster, Nicola; Matthews, Jamie; Nicholson, Alice; Wray, Gemma; Benham, Leonie; Bradshaw, Zena; Brown, Joanna; Caswell, Melanie; Cupitt, Jason; Melling, Sarah; Preston, Stephen; Slawson, Nicola; Stoddard, Emma; Warden, Scott; Combes, Edward; Joefield, Teishel; Monnery, Sonja; Beech, Valerie; Trotman, Sallyanne; Hopkins, Bridget; Scriven, James; Thrasyvoulou, Laura; Willis, Heather; Anderson, Susan; Birch, Janine; Collins, Emma; Hammerton, Kate; O’Leary, Ryan; Abernathy, Caroline; Foster, Louise; Gratrix, Andrew; Martinson, Vicky; Parkinson, Priyai; Stones, Elizabeth; Carbral-Ortega, Llucia; Kapoor, Ritoo; Loader, David; Castle, Karen; Brandwood, Craig; Smith, Lara; Clark, Richard; Birchall, Katie; Kolakaluri, Laurel; Baines, Deborah; Sukumaran, Anila; Mapfunde, Isheunesu; Meredith, Megan; Morris, Lucy; Ryan, Lucy; Clark, Amy; Sampson, Julia; Peters, Cecilia; Dent, Martin; Langley, Margaret; Ashraf, Saima; Wei, Shuying; Andrew, Angela; Chablani, Manish; Kirkby, Amy; Netherton, Kimberley; Bates, Michelle; Dasgin, Jo; Gill, Jaspret; Nilsson, Annette; Scriven, James; Apetri, Elena; Basikolo, Cathrine; Blackledge, Bethan; Catlow, Laura; Charles, Bethan; Dark, Paul; Doonan, Reece; Harris, Jade; Harvey, Alice; Horner, Daniel; Knowles, Karen; Lee, Stephanie; Lomas, Diane; Lyons, Chloe; Marsden, Tracy; McLaughlan, Danielle; McMorrow, Liam; Pendlebury, Jessica; Perez, Jane; Poulaka, Maria; Proudfoot, Nicola; Slaughter, Melanie; Slevin, Kathryn; Taylor, Melanie; Thomas, Vicky; Walker, Danielle; Michael, Angiy; Collis, Matthew; Clark, Martyn; Coulding, Martina; Jude, Edward; McCormick, Jacqueline; Mercer, Oliver; Potla, Darsh; Rehman, Hafiz; Savill, Heather; Turner, Victoria; Davey, Miriam; Golden, David; Seaman, Rebecca; Hunt, Jodie; Dearden, Joy; Dobson, Emma; Mulcahy, Michelle; Munt, Sheila; O’Connor, Grainne; Philbin, Jennifer; Rishton, Chloe; Tully, Redmond; Winnard, Sarah; Cagova, Lenka; Fofano, Adama; Garner, Lucie; Holcombe, Helen; Mepham, Sue; Mitchell, Alice Michael; Mwaura, Lucy; Praman, K.; Vuylsteke, Alain; Zamikula, Julie; Bercades, Georgia; Brealey, David; Hass, Ingrid; MacCallum, Niall; Martir, Gladys; Raith, Eamon; Reyes, Anna; Smyth, Deborah; Taylor, Abigail; Hughes, Rachel Anne; Thomas, Helen; Rees, Alun; Duskova, Michaela; Phipps, Janet; Brooks, Suzanne; Edwards, Michelle; Alexander, Peter; Allen, Schvearn; Bradley-Potts, Joanne; Brantwood, Craig; Egan, Jasmine; Felton, Timothy; Padden, Grace; Ward, Luke; Moss, Stuart; Glasgow, Susannah; Beesley, Kate; Board, Sarah; Kubisz-Pudelko, Agnieszka; Lewis, Alison; Perry, Jess; Pippard, Lucy; Wood, Di; Buckley, Clare; Brown, Alison; Gregory, Jane; O’Connell, Susan; Smith, Tim; Belagodu, Zakaula; Fuller, Bridget; Gherman, Anca; Olufuwa, Olumide; Paramsothy, Remi; Stuart, Carmel; Oakley, Naomi; Kamundi, Charlotte; Tyl, David; Collins, Katy; Silva, Pedro; Taylor, June; King, Laura; Coates, Charlotte; Crowley, Maria; Wakefield, Phillipa; Beadle, Jane; Johnson, Laura; Sargeant, Janet; Anderson, Madeleine; Jardine, Catherine; Williams, Dewi; Parris, Victoria; Quaid, Sheena; Watson, Ekaterina; Melville, Julie; Naisbitt, Jay; Joseph, Rosane; Lazo, Maria; Walton, Olivia; Neal, Alan; Hill, Michaela; Kannan, Thogulava; Wild, Laura; Allan, Elizabeth; Darlington, Kate; Davies, Ffyon; Easton, Jack; Kumar, Sumit; Lean, Richard; Menzies, Daniel; Pugh, Richard; Qiu, Xinyi; Davies, Llinos; Williams, Hannah; Scanlon, Jeremy; Davies, Gwyneth; Mackay, Callum; Lewis, Joannne; Rees, Stephanie; Coetzee, Samantha; Gales, Alistair; Otahal, Igor; Raj, Meena; Sell, Craig; Langton, Helen; Prout, Rachel; Watters, Malcolm; Novis, Catherine; Arbane, Gill; Bociek, Aneta; Campos, Sara; Grau, Neus; Jones, Tim Owen; Lim, Rosario; Marotti, Martina; Ostermann, Marlies; Shankar-Hari, Manu; Whitton, Christopher; Barron, Anthony; Collins, Ciara; Kaul, Sundeep; Passmore, Heather; Prendergast, Claire; Reed, Anna; Rogers, Paula; Shokkar, Rajvinder; Woodruff, Meriel; Middleton, Hayley; Polgar, Oliver; Nolan, Claire; Thwaites, Vicky; Mahay, Kanta; Sri-Chandana, Chunda; Scherewode, Joslan; Stephenson, Lorraine; Marsh, Sarah; Bancroft, Hollie; Bellamy, Mary; Carmody, Margaret; Daglish, Jacqueline; Moore, Faye; Rhodes, Joanne; Sangombe, Mirriam; Kadiri, Salma; Scriven, James; Ayers, Amanda; Harrison, Wendy; North, Julie; Cavazza, Anna; Cockrell, Maeve; Corcoran, Eleanor; Depante, Maria; Finney, Clare; Jerome, Ellen; McPhail, Mark; Nayak, Monalisa; Noble, Harriet; O’Reilly, Kevin; Pappa, Evita; Saha, Rohit; Saha, Sian; Smith, John; Knighton, Abigail; Gill, Mandy; Paul, Paul; Ratnam, Valli; Shelton, Sarah; Wynter, Inez; Baptista, David; Crowe, Rebecca; Fernandes, Rita; Herdman-Grant, Rosaleen; Joseph, Anna; Loveridge, Adam; McKenley, India; Morino, Eriko; Naranjo, Andres; Simms, Richard; Sollesta, Kathryn; Swain, Andrew; Venkatesh, Harish; Khera, Jacyntha; Fox, Jonathan; Barber, Russell; Hewitt, Claire; Hilldrith, Annette; Jackson-Lawrence, Karen; Shepardson, Sarah; Wills, Maryanne; Butler, Susan; Tavares, Silvia; Cunningham, Amy; Hindale, Julia; Arif, Sarwat; George, Linsha; Twiss, Sophie; Wright, David; Holland, Maureen; Keenan, Natalie; Lyons, Marc; Wassall, Helen; Marsh, Chris; Mahenthran, Mervin; Carter, Emma; Kong, Thomas; Adanini, Oluronke; Bhatia, Nikhil; Msiska, Maines; Mew, Louise; Mwaura, Esther; Stewart, Richard; Williams, Felicity; Wren, Lynn; Sutherland, Sara-Beth; Battle, Ceri; Brinkworth, Elaine; Harford, Rachel; Murphy, Carl; Newey, Luke; Rees, Tabitha; Williams, Marie; Arnold, Sophie; Brealey, David; Hardy, John; Houlden, Henry; Moncur, Eleanor; Raith, Eamon; Tariq, Ambreen; Tucci, Arianna; Convery, Karen; Fottrell-Gould, Deirdre; Hudig, Lisa; Keshet-Price, Jocelyn; Randell, Georgina; Stammers, Katie; Abdelrazik, Marwa; Bakthavatsalam, Dhanalakshmi; Elhassan, Munzir; Ganesan, Arunkumar; Haldeos, Anne; Moreno-Cuesta, Jeronimo; Purohit, Dharam; Vincent, Rachel; Xavier, Kugan; Rohit, Kumar; Alasdair, Frater; Saleem, Malik; David, Carter; Jenkins, Samuel; Lamond, Zoe; Wall, Alanna; Yates, Bryan; Reynolds, Jessica; Campbell, Helen; Thompsom, Maria; Dodds, Steve; Duffy, Stacey; Butcher, Deborah; O’Sullivan, Susie; Butterworth-Cowin, Nicola; Deacon, Bethan; Hibbert, Meg; Pothecary, Carla; Tetla, Dariusz; Woodford, Christopher; Durga, Latha; Kennard-Holden, Gareth; de Gordoa, Laura Ortiz-Ruiz; Peasgood, Emily; Phillips, Claire; Skinner, Denise; Gaylard, Jane; Mullan, Dee; Newman, Julie; Davies, Ellie; Roche, Lisa; Sathe, Sonia; Brimfield, Lutece; Daly, Zoe; Pogson, David; Rose, Steve; Collins, Amy; Khaliq, Waqas; Gude, Estefania Treus; Allen, Louise; Beranova, Eva; Crisp, Nikki; Deery, Joanne; Hazelton, Tracy; Knight, Alicia; Price, Carly; Tilbey, Sorrell; Turki, Salah; Turney, Sharon; Giles, Julian; Booth, Simon; Bell, Gillian; English, Katy; Katary, Amro; Wilcox, Louise; Campbell, Rachael; Clarke, Noreen; Whiteside, Jonathan; Mascarenhas, Mairi; Donaldson, Avril; Matheson, Joanna; Barrett, Fiona; O’Hara, Marianne; O’Keefe, Laura; Bradley, Clare; Collier, Dawn; Hormis, Anil; Walker, Rachel; Maynard, Victoria; Patel, Tahera; Smith, Matthew; Chukkambotla, Srikanth; Kazi, Aayesha; Hartley, Janice; Dykes, Joseph; Hijazi, Muhammad; Keith, Sarah; Khan, Meherunnisa; Ryan-Smith, Janet; Springle, Philippa; Thomas, Jacqueline; Truman, Nick; Saad, Samuel; Coleman, Dabheoc; Fine, Christopher; Matt, Roseanna; Gay, Bethan; Dalziel, Jack; Ali, Syamlan; Goodchild, Drew; Harling, Rhiannan; Bhatterjee, Ravi; Goddard, Wendy; Davison, Chloe; Duberly, Stephen; Hargreaves, Jeanette; Bolton, Rachel; Laha, Shondipon; Verlander, Mark; Williams, Alexandra; Blackman, Helen; Creagh-Brown, Ben; Donlon, Sinead; Michalak-Glinska, Natalia; Mtuwa, Sheila; Pristopan, Veronika; Salberg, Armorel; Smith, Eleanor; Stone, Sarah; Piercy, Charles; Verula, Jerik; Burda, Dorota; Montaser, Rugia; Harden, Lesley; Mayangao, Irving; Marriott, Cheryl; Bradley, Paul; Harris, Celia; Cooper, Joshua; Finch, Cheryl; Liderth, Sarah; Quinn, Alison; Waddington, Natalia; Fidler, Katy; Tagliavini, Emma; Donnelly, Kevin; Abel, Lynn; Brett, Michael; Digby, Brian; Gemmell, Lisa; Hornsby, James; MacGoey, Patrick; O’Neil, Pauline; Price, Richard; Rodden, Natalie; Rooney, Kevin; Sundaram, Radha; Thomson, Nicola; Flanagan, Rebecca; Hughes, Gareth; Latham, Scott; McKenna, Emma; Anderson, Jennifer; Hull, Robert; Rhead, Kat; Branney, Debbie; Frankham, Jordan; Pitts, Sally; White, Nigel; Cristiano, Daniele; Dormand, Natalie; Farzad, Zohreh; Gummadi, Mahitha; Liyanage, Kamal; Patel, Brijesh V.; Salmi, Sara; Sloane, Geraldine; Thwaites, Vicky; Varghese, Mathew; Zborowski, Anelise C.; Bean, Sarah; Burt, Karen; Spivey, Michael; Eastgate-Jackson, Christine; Filipe, Helder; Martin, Daniel; Maharajh, Amitaa; Garcia, Sara Mingo; De Neef, Mark; Deacon, Bethan; Lynch, Ceri; Pothecary, Carla; Roche, Lisa; Howe, Gwenllian Sera; Singh, Jayaprakash; Turner, Keri; Ellis, Hannah; Stroud, Natalie; Cherian, Shiney; Cutler, Sean; Heron, Anne Emma; Roynon-Reed, Anna; Szakmany, Tamas; Williams, Gemma; Richards, Owen; Cheema, Yusuf; Ahmad, Norfaizan; Barker, Joann; Bauchmuller, Kris; Bird, Sarah; Cawthron, Kay; Harrington, Kate; Jackson, Yvonne; Kibutu, Faith; Lenagh, Becky; Masuko, Shamiso; Mills, Gary H.; Raithatha, Ajay; Wiles, Matthew; Willson, Jayne; Newell, Helen; Lye, Alison; Nwafor, Lorenza; Jarman, Claire; Rowland-Jones, Sarah; Foote, David; Cole, Joby; Thompson, Roger; Watson, James; Hesseldon, Lisa; Macharia, Irene; Chetam, Luke; Smith, Jacqui; Ford, Amber; Anderson, Samantha; Birchall, Kathryn; Housley, Kay; Walker, Sara; Milner, Leanne; Hanratty, Helena; Trower, Helen; Phillips, Patrick; Oxspring, Simon; Donne, Ben; Bevan, Emily; Martin, Jane; Trodd, Dawn; Watson, Geoff; Brown, Caroline Wrey; Bunni, Lara; Jennings, Claire; Latif, Monica; Marshall, Rebecca; Subramanian, Gayathri; Bandla, Nageswar; Gellamucho, Minnie; Davies, Michelle; Thompson, Christopher; Trim, Fiona; Eapen, Beena; Ahmed, Cecilia; Baines, Balvinder; Clamp, Sarah; Colley, Julie; Haq, Risna; Hayes, Anne; Hulme, Jonathan; Hussain, Samia; Joseph, Sibet; Kumar, Rita; Maqsood, Zahira; Purewal, Manjit; Chandler, Ben; Elliott, Kerry; Mallinson, Janine; Turnbull, Alison; Dent, Kathy; Horsley, Elizabeth; Akhtar, Muhmmad Nauman; Pearson, Sandra; Potoczna, Dorota; Spencer, Sue; Blakemore, Hayley; Borislavova, Borislava; Faulkner, Beverley; Gendall, Emma; Goff, Elizabeth; Hayes, Kati; Thomas, Matt; Worner, Ruth; Smith, Kerry; Stephens, Deanna; Delgado, Carlos Castro; Dawson, Deborah; Ding, Lijun; Durrant, Georgia; Ezeobu, Obiageri; Farnell-Ward, Sarah; Harrison, Abiola; Kanu, Rebecca; Leaver, Susannah; Maccacari, Elena; Manna, Soumendu; Saluzzio, Romina Pepermans; Queiroz, Joana; Samakomva, Tinashe; Sicat, Christine; Texeira, Joana; Da Gloria, Edna Fernandes; Lisboa, Ana; Rawlins, John; Mathew, Jisha; Kinch, Ashley; Hurt, William James; Shah, Nirav; Clark, Victoria; Thanasi, Maria; Yun, Nikki; Patel, Kamal; Crickmore, Vikki; Debreceni, Gabor; Wilkins, Joy; Nicol, Liz; Burn, Iona; Hambrook, Geraldine; Manso, Katarina; Penn, Ruth; Shanmugasundaram, Pradeep; Tebbutt, Julie; Thornton, Danielle; Rostron, Anthony; Roy, Alistair; Woods, Lindsey; Cornell, Sarah; Wakinshaw, Fiona; Rogerson, Kimberley; Jarmain, Jordan; Anderson, Peter; Archer, Katie; Austin, Karen; Davis, Caroline; Durie, Alison; Kelsall, Olivia; Thrush, Jessica; Vigurs, Charlie; Wild, Laura; Wood, Hannah-Louise; Tranter, Helen; Harrison, Alison; Cowley, Nicholas; McAlindon, Michael; Burtenshaw, Andrew; Digby, Stephen; Low, Emma; Morgan, Aled; Cother, Naiara; Rankin, Tobias; Clayton, Sarah; McCurdy, Alex; Allibone, Suzanne; Mary-Genetu, Roman; Kasipandian, Vidya; Patel, Amit; Mac, Ainhi; Murphy, Anthony; Mahjoob, Parisa; Nazari, Roonak; Worsley, Lucy; Fagan, Andrew; Mohamed Ali, Inthakab Ali; Beaumont, Karen; Blunt, Mark; Coton, Zoe; Curgenven, Hollie; Elsaadany, Mohamed; Fernandes, Kay; Ally, Sameena Mohamed; Rangarajan, Harini; Sarathy, Varun; Selvanayagam, Sivarupan; Vedage, Dave; White, Matthew; Fernandez-Roman, Jaime; Hamilton, David O.; Johnson, Emily; Johnston, Brian; Martinez, Maria Lopez; Mulla, Suleman; Shaw, David; Waite, Alicia A. C.; Waugh, Victoria; Welters, Ingeborg D.; Williams, Karen; Bemand, Thomas; Black, Ethel; Rosa, Arnold Dela; Howle, Ryan; Jhanji, Shaman; Baikady, Ravishankar Rao; Tatham, Kate Colette; Thomas, Benjamin; Halkes, Matthew; Mercer, Pauline; Thornton, Lorraine; West, Joe; Baird, Tracy; Ruddy, Jim; Reece-Anthony, Rosie; Birt, Mark; Cowton, Amanda; Kay, Andrea; Kent, Melanie; Potts, Kathryn; Wilkinson, Ami; Naylor, Suzanne; Brown, Ellen; Clark, Michele; Purvis, Sarah; Cole, Jade; Davies, Michelle; Davies, Rhys; Duffin, Donna; Hill, Helen; Player, Ben; Thomas, Emma; Williams, Angharad; Beith, Claire Marie; Black, Karen; Clements, Suzanne; Morrison, Alan; Strachan, Dominic; Taylor, Margaret; Clarkson, Michelle; D’Sylva, Stuart; Norman, Kathryn; Coventry, Tina; Fowler, Susan; MacMahon, Michael; McGregor, Amanda; Brady, Ailbhe; Chan, Rebekah; Little, Jeff; McIvor, Shane; Prady, Helena; Whittle, Helen; Mathew, Bijoy; Clapham, Melanie; Harper, Rosemary; Poultney, Una; Rice, Polly; Smith, Tim; Mutch, Rachel; Baird, Yolanda; Butler, Aaron; Chadbourn, Indra; Folkes, Linda; Fox, Heather; Gardner, Amy; Gomez, Raquel; Hobden, Gillian; Hodgson, Luke; King, Kirsten; Margarson, Michael; Martindale, Tim; Meadows, Emma; Raynard, Dana; Thirlwall, Yvette; Helm, David; Margalef, Jordi; Greer, Sandra; Shuker, Karen; Tridente, Ascanio; Smuts, Sara; Duffield, Joseph; Smith, Oliver; Mallon, Lewis; Claire, Watkins; Birkinshaw, Isobel; Carter, Joseph; Howard, Kate; Ingham, Joanne; Joy, Rosie; Pearson, Harriet; Roche, Samantha; Scott, Zoe; Knights, Ellen; Price, Alicia; Thomas, Alice; Thorpe, Chris; Abraheem, Azmerelda; Bamford, Peter; Cawley, Kathryn; Dunmore, Charlie; Faulkner, Maria; Girach, Rumanah; Jeffrey, Helen; Jones, Rhianna; London, Emily; Nagra, Imrun; Nasir, Farah; Sainsbury, Hannah; Smedley, Clare; Khade, Reena; Sundar, Ashok; Tsinaslanidis, George; Behan, Teresa; Burnett, Caroline; Hatton, Jonathan; Heeney, Elaine; Mitra, Atideb; Newton, Maria; Pollard, Rachel; Stead, Rachael; Birch, Jenny; Bough, Laura; Goodsell, Josie; Tutton, Rebecca; Williams, Patricia; Williams, Sarah; Winter-Goodwin, Barbara; Auld, Fiona; Donnachie, Joanne; Edmond, Ian; Prentice, Lynn; Runciman, Nikole; Salutous, Dario; Symon, Lesley; Todd, Anne; Turner, Patricia; Short, Abigail; Sweeney, Laura; Murdoch, Euan; Senaratne, Dhaneesha; Burns, Karen; Higham, Andrew; Anderson, Taya; Hawcutt, Dan; O’Malley, Laura; Rad, Laura; Rogers, Naomi; Saunderson, Paula; Allison, Kathryn Sian; Afolabi, Deborah; Whitbread, Jennifer; Jones, Dawn; Dore, Rachael; Lankester, Liana; Nikitas, Nikitas; Wells, Colin; Stowe, Bethan; Spencer, Kayleigh; Cathcart, Susanne; Duffy, Katharine; Puxty, Alex; Puxty, Kathryn; Turner, Lynne; Ireland, Jane; Semple, Gary; Barry, Peter; Hilltout, Paula; Evitts, Jayne; Tyler, Amanda; Waldron, Joanne; Irvine, Val; Shelley, Benjamin; Akinkugbe, Olugbenga; Bamford, Alasdair; Beech, Emily; Belfield, Holly; Bell, Michael; Davies, Charlene; Jones, Gareth A. L.; McHugh, Tara; Meghari, Hamza; O’Neill, Lauran; Peters, Mark J.; Ray, Samiran; Tomas, Ana Luisa; Easthope, Amy; Gorman, Claire; Gupta, Abhinav; Timlick, Elizabeth; Brady, Rebecca; Bonner, Stephen; Hugill, Keith; Jones, Jessica; Liggett, Steven; Bashyal, Archana; Davidson, Neil; Hutton, Paula; McKechnie, Stuart; Wilson, Jean; Flint, Neil; Rekha, Patel; Hales, Dawn; Cruz, Carina; Pattison, Natalie; Gopal, Shameer; Harris, Nichola; Lake, Victoria; Metherell, Stella; Radford, Elizabeth; Clement, Ian; Patel, Bijal; Gulati, A.; Hays, Carole; Webster, K.; Hudson, Anne; Webster, Andrea; Stephenson, Elaine; McCormack, Louise; Slater, Victoria; Nixon, Rachel; Hanson, Helen; Fearby, Maggie; Kelly, Sinead; Bridgett, Victoria; Robinson, Philip; Almaden-Boyle, Christine; Austin, Pauline; Cabrelli, Louise; Cole, Stephen; Casey, Matt; Chapman, Susan; Whyte, Clare; Brayne, Adam; Fisher, Emma; Hunt, Jane; Jackson, Peter; Kaye, Duncan; Love, Nicholas; Parkin, Juliet; Tuckey, Victoria; van Koutrik, Lynne; Carter, Sasha; Andrew, Benedict; Findlay, Louise; Adams, Katie; Bruce, Michelle; Connolly, Karen; Duncan, Tracy; T.-Michael, Helen; Lindergard, Gabriella; Hey, Samuel; Fox, Claire; Alfonso, Jordan; Durrans, Laura Jayne; Guerin, Jacinta; Blackledge, Bethan; Harris, Jade; Hruska, Martin; Eltayeb, Ayaa; Lamb, Thomas; Hodgkiss, Tracey; Cooper, Lisa; Rothwell, Joanne; Dennis, Catherine; McGregor, Alastair; Parris, Victoria; Srikaran, Sinduya; Sukha, Anisha; Davies, Kim; O’Brien, Linda; Omar, Zohra; Otahal, Igor; Perkins, Emma; Lewis, Tracy; Sutherland, Isobel; Brooke, Hollie; Buckley, Sarah; Suarez, Jose Cebrian; Charlesworth, Ruth; Hansson, Karen; Norris, John; Poole, Alice; Rose, Alastair; Sandhu, Rajdeep; Sloan, Brendan; Smithson, Elizabeth; Thirumaran, Muthu; Wagstaff, Veronica; Metcalfe, Alexandra; Camsooksai, Julie; Humphrey, Charlotte; Jenkins, Sarah; Reschreiter, Henrik; Wadams, Beverley; DeAth, Yasmin; Adams, Colene; Agasou, Anita; Arden, Tracie; Bowes, Amy; Boyle, Pauline; Beekes, Mandy; Button, Heather; Capps, Nigel; Carnahan, Mandy; Carter, Anne; Childs, Danielle; Donaldson, Denise; Hard, Kelly; Hurford, Fran; Hussain, Yasmin; Javaid, Ayesha; Jones, James; Jose, Sanal; Leigh, Michael; Martin, Terry; Millward, Helen; Motherwell, Nichola; Rikunenko, Rachel; Stickley, Jo; Summers, Julie; Ting, Louise; Tivenan, Helen; Tonks, Louise; Wilcox, Rebecca; Bokhari, Maria; Linnett, Vanessa; Lucas, Rachael; McCormick, Wendy; Ritzema, Jenny; Sanderson, Amanda; Wild, Helen; Baxter, Nicola; Henderson, Steven; Kennedy-Hay, Sophie; McParland, Christopher; Rooney, Laura; Sim, Malcolm; McCreath, Gordan; Brunton, Mark; Caterson, Jess; Coles, Holly; Frise, Matthew; Rai, Sabi Gurung; Jacques, Nicola; Keating, Liza; Tilney, Emma; Bartley, Shauna; Bhuie, Parminder; Downes, Charlotte; Holding, Kathleen; Riches, Katie; Hilton, Mary; Hayman, Mel; Subramanian, Deepak; Daniel, Priya; Zitter, Letizia; Benyon, Sarah; Marriott, Suzie; Park, Linda; Keenan, Samantha; Gordon, Elizabeth; Quinn, Helen; Baines, Kizzy; Andrew, Gillian; Baillie, J. Kenneth; Barclay, Lucy; Callaghan, Marie; Campbell, Rachael; Clark, Sarah; Hope, Dave; Marshall, Lucy; McCulloch, Corrienne; Briton, Kate; Singleton, Jo; Birch, Sophie; Higham, Andrew; Simpson, Kerry; Craig, Jayne; Demetriou, Carrie; Eckbad, Charlotte; Hierons, Sarah; Howie, Lucy; Mitchard, Sarah; Ramos, Lidia; Serrano-Ruiz, Alfredo; White, Katie; Kelly, Fiona; Amin, Vishal; Anastasescu, Elena; Anumakonda, Vikram; Karthik, Komala; Kausar, Rizwana; Reid, Karen; Smith, Jacqueline; Imeson-Wood, Janet; Bellini, Arianna; Bryant, Jade; Mayer, Anton; Pickard, Amy; Roe, Nicholas; Sowter, Jason; Howlett, Alex; Criste, Kristine; Cusack, Rebecca; Golder, Kim; Golding, Hannah; Jones, Oliver; Leggett, Samantha; Male, Michelle; Marani, Martyna; Prager, Kirsty; Williams, Toran; Roberts, Belinda; Salmon, Karen; Gondo, Prisca; Hadebe, B.; Kayani, Abdul; Masunda, Bridgett; Ahmed, Ashar; Morris, Anna; Jakkula, Srinivas; Long, Kate; Whiteley, Simon; Wilby, Elizabeth; Ogg, Bethan; Moultrie, Sam; Odam, M.; Bewley, Jeremy; Garland, Zoe; Grimmer, Lisa; Gumbrill, Bethany; Johnson, Rebekah; Sweet, Katie; Webster, Denise; Efford, Georgia; Bennett, Sara; Goodwin, Emma; Jackson, Matthew; Kent, Alissa; Tibke, Clare; Woodyatt, Wiesia; Zaki, Ahmed; Daniel, Amelia; Finn, Joanne; Saha, Rajnish; Staines, Nikki; Easthope, Amy; Bremmer, Pamela; Allan, J.; Geary, T.; Houston, Gordon; Meikle, A.; O’Brien, P.; Bell, Dina; Boyle, Rosalind; Douglas, Katie; Glass, Lynn; Lee, Emma; Lennon, Liz; Rattray, Austin; Charnock, Rob; McFarland, Denise; Cosgrove, Denise; Attwood, Ben; Parsons, Penny; Carmody, Siobhain; Oblak, Metod; Popescu, Monica; Thankachen, Mini; Baruah, Rosie; Morris, Sheila; Ferguson, Susie; Shepherd, Amy; Altabaibeh, Abdelhakim; Alvaro, Ana; Gilbert, Kayleigh; Ma, Louise; Mostoles, Loreta; Parmar, Chetan; Simpson, Kathryn; Jetha, Champa; Booker, Lauren; Pratley, Anezka; Cosier, Tracey; Millen, Gemma; Richardson, Neil; Schumacher, Natasha; Weston, Heather; Rand, James; Alex, Beatrice; Bach, Benjamin; Barclay, Wendy S.; Bogaert, Debby; Chand, Meera; Cooke, Graham S.; Docherty, Annemarie B.; Dunning, Jake; da Silva Filipe, Ana; Fletcher, Tom; Green, Christoper A.; Harrison, Ewen M.; Hiscox, Julian A.; Ijaz, Samreen; Khoo, Saye; Klenerman, Paul; Lim, Wei Shen; Mentzer, Alexander J.; Merson, Laura; Noursadeghi, Mahdad; Moore, Shona C.; Palmarini, Massimo; Paxton, William A.; Pollakis, Georgios; Price, Nicholas; Rambaut, Andrew; Robertson, David L.; Russell, Clark D.; Sancho-Shimizu, Vanessa; Scott, Janet T.; de Silva, Thushan; Sigfrid, Louise; Solomon, Tom; Sriskandan, Shiranee; Stuart, David; Tedder, Richard S.; Thomson, Emma C.; Roger Thompson, A. A.; Thwaites, Ryan S.; Turtle, Lance C. W.; Gupta, Rishi K.; Palmieri, Carlo; Swann, Olivia V.; Zambon, Maria; Dumas, Marc-Emmanuel; Griffin, Julian L.; Takats, Zoltan; Chechi, Kanta; Andrikopoulos, Petros; Osagie, Anthonia; Olanipekun, Michael; Liggi, Sonia; Lewis, Matthew R.; Correia, Gonçalo dos Santos; Sands, Caroline J.; Takis, Panteleimon; Maslen, Lynn; Greenhalf, William; Shaw, Victoria; McDonald, Sarah E.; Keating, Seán; Ahmed, Katie A.; Armstrong, Jane A.; Ashworth, Milton; Asiimwe, Innocent G.; Bakshi, Siddharth; Barlow, Samantha L.; Booth, Laura; Brennan, Benjamin; Bullock, Katie; Catterall, Benjamin W. A.; Clark, Jordan J.; Clarke, Emily A.; Cooper, Louise; Cox, Helen; Davis, Christopher; Dincarslan, Oslem; Dunn, Chris; Dyer, Philip; Elliott, Angela; Evans, Anthony; Finch, Lorna; Fisher, Lewis W. S.; Foster, Terry; Garcia-Dorival, Isabel; Greenhalf, William; Gunning, Philip; Hartley, Catherine; Jensen, Rebecca L.; Jones, Christopher B.; Jones, Trevor R.; Khandaker, Shadia; King, Katharine; Kiy, Robyn T.; Koukorava, Chrysa; Lake, Annette; Lant, Suzannah; Latawiec, Diane; Lavelle-Langham, Lara; Lefteri, Daniella; Lett, Lauren; Livoti, Lucia A.; Mancini, Maria; McDonald, Sarah; McEvoy, Laurence; McLauchlan, John; Metelmann, Soeren; Miah, Nahida S.; Middleton, Joanna; Mitchell, Joyce; Moore, Shona C.; Murphy, Ellen G.; Penrice-Randal, Rebekah; Pilgrim, Jack; Prince, Tessa; Reynolds, Will; Ridley, P. Matthew; Sales, Debby; Shaw, Victoria E.; Shears, Rebecca K.; Small, Benjamin; Subramaniam, Krishanthi S.; Szemiel, Agnieska; Taggart, Aislynn; Tanianis-Hughes, Jolanta; Thomas, Jordan; Trochu, Erwan; van Tonder, Libby; Wilcock, Eve; Zhang, J. Eunice; Flaherty, Lisa; Maziere, Nicole; Cass, Emily; Carracedo, Alejandra Doce; Carlucci, Nicola; Holmes, Anthony; Massey, Hannah; Murphy, Lee; Wrobel, Nicola; McCafferty, Sarah; Morrice, Kirstie; MacLean, Alan; Armstrong, Ruth; Boz, Ceilia; Brown, Adam; Clark, Richard; Coutts, Audrey; Cullum, Louise; Day, Nicky; Donnelly, Lorna; Duncan, Esther; Fawkes, Angie; Finernan, Paul; Gilchrist, Tammy; Golightly, Ailsa; Hafezi, Katarzyna; Law, Dawn; Law, Rachel; Law, Sarah; Macgillivray, Louise; Maclean, Alan; Mal, Hanning; McCafferty, Sarah; Mcmaster, Ellie; Meikle, Jen; Moore, Shona C.; Morrice, Kirstie; Murphy, Lee; Oosthuyzen, Wilna; Paterson, Trevor; Stenhouse, Andrew; Swets, Maaike; Szoor-McElhinney, Helen; Taneski, Filip; Wackett, Tony; Ward, Mairi; Weaver, Jane; Wrobel, Nicola; Coyle, Judy; Gallagher, Bernadette; Lidstone-Scott, Rebecca; Hamilton, Debbie; Schon, Katherine; Furlong, Anita; Biggs, Heather; Griffiths, Fiona; Andrews, Eleanor; Brickell, Kathy; Smyth, Michelle; Murphy, Lorna; Carson, Gail; Hardwick, Hayley; Donohue, Chloe | |
Growth in Children With Noonan Syndrome and Effects of Growth Hormone Treatment on Adult Height | 2021 | Libraro A.; D'Ascanio V.; Cappa M.; Chiarito M.; Digilio M.C.; Einaudi S.; Grandone A.; Maghnie M.; Mazzanti L.; Mussa A.; Patti G.; Scarano E.; Spinuzza A.; Vannelli S.; Wasniewska M.G.; Ferrero G.B.; Faienza M.F. | |
A new case of Smith-Kingsmore syndrome with somatic MTOR pathogenic variant expands the phenotypic spectrum to lateralized overgrowth | 2021 | Carli D.; Ferrero G.B.; Fusillo A.; Coppo P.; La Selva R.; Zinali F.; Cardaropoli S.; Ranieri C.; Iacoviello M.; Resta N.; Mussa A. | |
Lateralized and segmental overgrowth in children | 2021 | Mussa A.; Carli D.; Cardaropoli S.; Ferrero G.B.; Resta N. | |
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5) | 2021 | Innella, Giovanni; Greco, Donatella; Carli, Diana; Magini, Pamela; Giorgio, Elisa; Galesi, Ornella; Ferrero, Giovanni Battista; Romano, Corrado; Brusco, Alfredo; Graziano, Claudio | |
Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring | 2021 | Andrea Piolatto, Paola Berchialla, Sarah Allegra, Silvia De Francia, Giovanni Battista Ferrero, Antonio Piga, Filomena Longo | |
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism | 2020 | Satterstrom, F Kyle; Kosmicki, Jack A; Wang, Jiebiao; Breen, Michael S; De Rubeis, Silvia; An, Joon-Yong; Peng, Minshi; Collins, Ryan; Grove, Jakob; Klei, Lambertus; Stevens, Christine; Reichert, Jennifer; Mulhern, Maureen S; Artomov, Mykyta; Gerges, Sherif; Sheppard, Brooke; Xu, Xinyi; Bhaduri, Aparna; Norman, Utku; Brand, Harrison; Schwartz, Grace; Nguyen, Rachel; Guerrero, Elizabeth E; Dias, Caroline; Aleksic B; Anney R; Barbosa M; Bishop S; Brusco A; Bybjerg-Grauholm J; Carracedo A; Chan MCY; Chiocchetti AG; Chung BHY; Coon H; Cuccaro ML; Curró A; Dalla Bernardina B; Doan R; Domenici E; Dong S; Fallerini C; Fernández-Prieto M; Ferrero GB; Freitag CM; Fromer M; Gargus JJ; Geschwind D; Giorgio E; González-Peñas J; Guter S; Halpern D; Hansen-Kiss E; He X; Herman GE; Hertz-Picciotto I; Hougaard DM; Hultman CM; Ionita-Laza I; Jacob S; Jamison J; Jugessur A; Kaartinen M; Knudsen GP; Kolevzon A; Kushima I; Lee SL; Lehtimäki T; Lim ET; Lintas C; Lipkin WI; Lopergolo D; Lopes F; Ludena Y; Maciel P; Magnus P; Mahjani B; Maltman N; Manoach DS; Meiri G; Menashe I; Miller J; Minshew N; Montenegro EMS; Moreira D; Morrow EM; Mors O; Mortensen PB; Mosconi M; Muglia P; Neale BM; Nordentoft M; Ozaki N; Palotie A; Parellada M; Passos-Bueno MR; Pericak-Vance M; Persico AM; Pessah I; Puura K; Reichenberg A; Renieri A; Riberi E; Robinson EB; Samocha KE; Sandin S; Santangelo SL; Schellenberg G; Scherer SW; Schlitt S; Schmidt R; Schmitt L; Silva IMW; Singh T; Siper PM; Smith M; Soares G; Stoltenberg C; Suren P; Susser E; Sweeney J; Szatmari P; Tang L; Tassone F; Teufel K; Trabetti E; Trelles MDP; Walsh CA; Weiss LA; Werge T; Werling DM; Wigdor EM; Wilkinson E; Willsey AJ; Yu TW; Yu MHC; Yuen R; Zachi E; Agerbo E; Als TD; Appadurai V; Bækvad-Hansen M; Belliveau R; Buil A; Carey CE; Cerrato F; Chambert K; Churchhouse C; Dalsgaard S; Demontis D; Dumont A; Goldstein J; Hansen CS; Hauberg ME; Hollegaard MV; Howrigan DP; Huang H; Maller J; Martin AR; Martin J; Mattheisen M; Moran J; Pallesen J; Palmer DS; Pedersen CB; Pedersen MG; Poterba T; Poulsen JB; Ripke S; Schork AJ; Thompson WK; Turley P; Walters RK; Betancur, Catalina; Cook, Edwin H; Gallagher, Louise; Gill, Michael; Sutcliffe, James S; Thurm, Audrey; Zwick, Michael E; Børglum, Anders D; State, Matthew W; Cicek, A Ercument; Talkowski, Michael E; Cutler, David J; Devlin, Bernie; Sanders, Stephan J; Roeder, Kathryn; Daly, Mark J; Buxbaum, Joseph D | |
Chronic subdural hematoma: A previously unreported life-threatening complication in adult with Sotos syndrome | 2020 | Carli D.; Gazzin A.; Bongioanni M.R.; Bergui M.; Mussa A.; Ferrero G.B. | |
Atypical cardiac defects in patients with RASopathies: Updated data on CARNET study | 2020 | Calcagni G.; Gagliostro G.; Limongelli G.; Unolt M.; De Luca E.; Digilio M.C.; Baban A.; Albanese S.B.; Ferrero G.B.; Baldassarre G.; Agnoletti G.; Banaudi E.; Marek J.; Kaski J.P.; Tuo G.; Marasini M.; Cairello F.; Madrigali A.; Pacileo G.; Russo M.G.; Milanesi O.; Formigari R.; Brighenti M.; Ragni L.; Donti A.; Drago F.; Dallapiccola B.; Tartaglia M.; Marino B.; Versacci P. | |
BULLOUS PILOMATRIXOMA | 2020 | Garofalo S.; Guana R.; Scottoni F.; Cortese M.G.; Cerrina A.; Linari A.; Carli D.; Ferrero G.B.; Gennari F. | |
Prenatal phenotype in Beckwith-Wiedemann spectrum | 2020 | Carli, D; Bertola, C; Cardaropoli, S; Ciuffreda, VP; Pieretto, M; Ferrero, GB; Mussa, A | |
Loss-of-function variants in CAPRIN1 in patients affected by autism spectrum disorder, language delay and intellectual disability with variable expressivity and incomplete penetrance | 2020 | Pavinato, L; Howe, JL; Carli, D; Agolini, E; Coviello, DA; Van de Laar, IMBH; Au, PYB; Di Gregorio, E; Giorgio, E; Pozzi, E; Ferrero, M; Cardaropoli, S; Delle Vedove, A; Salpietro, V; Zara, F; Novelli, A; Wirth, B; Ferrero, GB; Scherer, SW; Brusco, A | |
Esophageal duplication cyst in newborn | 2020 | Garofalo S.; Schleef J.; Guana R.; Suteu L.; Cortese M.G.; Carli D.; Ferrero Giovanni Battista; Gennari F. | |
Further delineation of the clinical spectrum of KAT6B disorders and allelic series of pathogenic variants | 2020 | Zhang L.X.; Lemire G.; Gonzaga-Jauregui C.; Molidperee S.; Galaz-Montoya C.; Liu D.S.; Verloes A.; Shillington A.G.; Izumi K.; Ritter A.L.; Keena B.; Zackai E.; Li D.; Bhoj E.; Tarpinian J.M.; Bedoukian E.; Kukolich M.K.; Innes A.M.; Ediae G.U.; Sawyer S.L.; Nair K.M.; Soumya P.C.; Subbaraman K.R.; Probst F.J.; Bassetti J.A.; Sutton R.V.; Gibbs R.A.; Brown C.; Boone P.M.; Holm I.A.; Tartaglia M.; Ferrero G.B.; Niceta M.; Dentici M.L.; Radio F.C.; Keren B.; Wells C.F.; Coubes C.; Laquerriere A.; Aziza J.; Dubucs C.; Nampoothiri S.; Mowat D.; Patel M.S.; Bracho A.; Cammarata-Scalisi F.; Gezdirici A.; Fernandez-Jaen A.; Hauser N.; Zarate Y.A.; Bosanko K.A.; Dieterich K.; Carey J.C.; Chong J.X.; Nickerson D.A.; Bamshad M.J.; Lee B.H.; Yang X.-J.; Lupski J.R.; Campeau P.M. | |
Family-based whole exome sequencing allows a 25% diagnostic yield in patients with autism spectrum disorder | 2020 | D Carli, E Giorgio, L Pavinato, E Riberi, P Dimartino, A Bruselles, S Cardaropoli, A Mussa, A Pelle, G Mandrile, V Antona, L Sorasio, E Biamino, EF Belligni, V Rizzo, F Sirchia, I Bagnasco, G Zacchetti, VG Naretto, G Gai, A Zonta, E Grosso, C Davico, R Keller, T Pippucci, M Tartaglia, S De Rubeis, A Brusco, GB Ferrero | |
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients | 2020 | Bryant L.; Li D.; Cox S.G.; Marchione D.; Joiner E.F.; Wilson K.; Janssen K.; Lee P.; March M.E.; Nair D.; Sherr E.; Fregeau B.; Wierenga K.J.; Wadley A.; Mancini G.M.S.; Powell-Hamilton N.; van de Kamp J.; Grebe T.; Dean J.; Ross A.; Crawford H.P.; Powis Z.; Cho M.T.; Willing M.C.; Manwaring L.; Schot R.; Nava C.; Afenjar A.; Lessel D.; Wagner M.; Klopstock T.; Winkelmann J.; Catarino C.B.; Retterer K.; Schuette J.L.; Innis J.W.; Pizzino A.; Luttgen S.; Denecke J.; Strom T.M.; Monaghan K.G.; Yuan Z.-F.; Dubbs H.; Bend R.; Lee J.A.; Lyons M.J.; Hoefele J.; Gunthner R.; Reutter H.; Keren B.; Radtke K.; Sherbini O.; Mrokse C.; Helbig K.L.; Odent S.; Cogne B.; Mercier S.; Bezieau S.; Besnard T.; Kury S.; Redon R.; Reinson K.; Wojcik M.H.; Ounap K.; Ilves P.; Innes A.M.; Kernohan K.D.; Costain G.; Meyn M.S.; Chitayat D.; Zackai E.; Lehman A.; Kitson H.; Martin M.G.; Martinez-Agosto J.A.; Nelson S.F.; Palmer C.G.S.; Papp J.C.; Parker N.H.; Sinsheimer J.S.; Vilain E.; Wan J.; Yoon A.J.; Zheng A.; Brimble E.; Ferrero G.B.; Radio F.C.; Carli D.; Barresi S.; Brusco A.; Tartaglia M.; Thomas J.M.; Umana L.; Weiss M.M.; Gotway G.; Stuurman K.E.; Thompson M.L.; McWalter K.; Stumpel C.T.R.M.; Stevens S.J.C.; Stegmann A.P.A.; Tveten K.; Vollo A.; Prescott T.; Fagerberg C.; Laulund L.W.; Larsen M.J.; Byler M.; Lebel R.R.; Hurst A.C.; Dean J.; Schrier Vergano S.A.; Norman J.; Mercimek-Andrews S.; Neira J.; Van Allen M.I.; Longo N.; Sellars E.; Louie R.J.; Cathey S.S.; Brokamp E.; Heron D.; Snyder M.; Vanderver A.; Simon C.; de la Cruz X.; Padilla N.; Crump J.G.; Chung W.; Garcia B.; Hakonarson H.H.; Bhoj E.J. | |
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review | 2020 | Trajkova S.; Di Gregorio E.; Ferrero G.B.; Carli D.; Pavinato L.; Delplancq G.; Kuentz P.; Brusco A. | |
Comparison of Quantitative Analysis of Methylated Alleles Real-Time PCR and Methylation-Specific MLPA for Molecular Diagnosis of Beckwith-Wiedemann Syndrome. | 2019 | Bergallo M, Galliano I, Montanari P, Calvi C, Daprà V, Carli D, Russo S, Mussa A, Ferrero GB | |
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome | 2019 | Mussa, Alessandro; Duffy, Kelly A; Carli, Diana; Ferrero, Giovanni Battista; Kalish, Jennifer M | |
Psychopathology in adolescents and adults with autism spectrum disorders | 2019 | Brusco Alfredo; Ferrero Giovanni Battista | |
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome | 2019 | Mussa, Alessandro; Ciuffreda, Valentina Pia; Sauro, Pina; Pagliardini, Veronica; Pagliardini, Severo; Carli, Diana; Kalish, Jennifer M.; Fagioli, Franca; Pavanello, Enza; Ferrero, Giovanni Battista | |
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders | 2019 | Salpietro, Vincenzo; Dixon, Christine L; Guo, Hui; Bello, Oscar D; Vandrovcova, Jana; Efthymiou, Stephanie; Maroofian, Reza; Heimer, Gali; Burglen, Lydie; Valence, Stephanie; Torti, Erin; Hacke, Moritz; Rankin, Julia; Tariq, Huma; Colin, Estelle; Procaccio, Vincent; Striano, Pasquale; Mankad, Kshitij; Lieb, Andreas; Chen, Sharon; Pisani, Laura; Bettencourt, Conceicao; Männikkö, Roope; Manole, Andreea; Brusco, Alfredo; Grosso, Enrico; Ferrero, Giovanni Battista; Armstrong-Moron, Judith; Gueden, Sophie; Bar-Yosef, Omer; Tzadok, Michal; Monaghan, Kristin G; Santiago-Sim, Teresa; Person, Richard E; Cho, Megan T; Willaert, Rebecca; Yoo, Yongjin; Chae, Jong-Hee; Quan, Yingting; Wu, Huidan; Wang, Tianyun; Bernier, Raphael A; Xia, Kun; Blesson, Alyssa; Jain, Mahim; Motazacker, Mohammad M; Jaeger, Bregje; Schneider, Amy L; Boysen, Katja; Muir, Alison M; Myers, Candace T; Gavrilova, Ralitza H; Gunderson, Lauren; Schultz-Rogers, Laura; Klee, Eric W; Dyment, David; Osmond, Matthew; Parellada, Mara; Llorente, Cloe; Gonzalez-Peñas, Javier; Carracedo, Angel; Van Haeringen, Arie; Ruivenkamp, Claudia; Nava, Caroline; Heron, Delphine; Nardello, Rosaria; Iacomino, Michele; Minetti, Carlo; Skabar, Aldo; Fabretto, Antonella; Raspall-Chaure, Miquel; Chez, Michael; Tsai, Anne; Fassi, Emily; Shinawi, Marwan; Constantino, John N; De Zorzi, Rita; Fortuna, Sara; Kok, Fernando; Keren, Boris; Bonneau, Dominique; Choi, Murim; Benzeev, Bruria; Zara, Federico; Mefford, Heather C; Scheffer, Ingrid E; Clayton-Smith, Jill; Macaya, Alfons; Rothman, James E; Eichler, Evan E; Kullmann, Dimitri M; Houlden, Henry | |
Recessive gene disruptions in autism spectrum disorder | 2019 | Doan R.N.; Lim E.T.; De Rubeis S.; Betancur C.; Cutler D.J.; Chiocchetti A.G.; Overman L.M.; Soucy A.; Goetze S.; ASC consortium; Brusco A.; Curró A.; Fallerini C.; Lopergolo D.; Lintas C.; Domenici E.; Dalla Bernardina B.; Ferrero G.B.; Giorgio E.; Trabetti E.; Renieri A.; Riberi E.; Freitag C.M.; Daly M.J.; Walsh C.A.; Buxbaum J.D.; Yu T.W. | |
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes | 2019 | Crippa M.; Bonati M.T.; Calzari L.; Picinelli C.; Gervasini C.; Sironi A.; Bestetti I.; Guzzetti S.; Bellone S.; Selicorni A.; Mussa A.; Riccio A.; Ferrero Giovanni Battista .; Russo S.; Larizza L.; Finelli P. | |
The effectiveness of Wilms tumor screening in Beckwith–Wiedemann spectrum | 2019 | Mussa A.; Duffy K.A.; Carli D.; Griff J.R.; Fagiano R.; Kupa J.; Brodeur G.M.; Ferrero Giovanni Battista; Kalish J.M. | |
Beckwith-Wiedemann Syndrome Negligible Effects on Tumor Risk Associated with in Vitro Fertilization | 2019 | Carli D.; Ferrero G.B.; Mussa A. | |
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome | 2019 | Gazzin A.; Carli D.; Sirchia F.; Molinatto C.; Cardaropoli S.; Palumbo G.; Zampino G.; Ferrero G.B.; Mussa A. | |
Adult phenotype of Beckwith-Wiedemann syndrome | 2019 | Carli, D; Gazzin, A; Molinatto, C; Sirchia, F; Cardaropoli, S; Mussa, A; Ferrero, GB | |
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus | 2019 | Valente F.M.; Sparago A.; Freschi A.; Hill-Harfe K.; Maas S.M.; Frints S.G.M.; Alders M.; Pignata L.; Franzese M.; Angelini C.; Carli D.; Mussa A.; Gazzin A.; Gabbarini F.; Acurzio B.; Ferrero G.B.; Bliek J.; Williams C.A.; Riccio A.; Cerrato F. | |
ECG in Noonan syndrome: Beyond the “normal abnormalities” | 2019 | Mazza G.A.; Banaudi E.; Ferrero G.B.; Baldassarre G.; Agnoletti G. | |
Syndromic Disorders Caused by Disturbed Human Imprinting | 2019 | Carli, Diana; Riberi, Evelise; Ferrero, Giovanni Battista; Mussa, Alessandro | |
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations | 2019 | Carli, Diana; Giorgio, Elisa; Pantaleoni, Francesca; Bruselles, Alessandro; Barresi, Sabina; Riberi, Evelise; Licciardi, Francesco; Gazzin, Andrea; Baldassarre, Giuseppina; Pizzi, Simone; Niceta, Marcello; Radio, Francesca Clementina; Molinatto, Cristina; Montin, Davide; Calvo, Pier Luigi; Ciolfi, Andrea; Fleischer, Nicole; Ferrero, Giovanni Battista; Brusco, Alfredo; Tartaglia, Marco | |
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells | 2018 | Ho, Bianca; Greenlaw, Keelin; Al Tuwaijri, Abeer; Moussette, Sanny; Martínez, Francisco; Giorgio, Elisa; Brusco, Alfredo; Ferrero, Giovanni Battista; Linhares, Natália D; Valadares, Eugênia R; Svartman, Marta; Kalscheuer, Vera M; Rodríguez Criado, Germán; Laprise, Catherine; Greenwood, Celia M T; Naumova, Anna K | |
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele | 2018 | Mussa, Alessandro; Carli, Diana; Cardaropoli, Simona; Molinatto, Cristina; Ferrero, Giovanni Battista | |
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply | 2018 | Brioude, Frédéric; Hennekam, Raoul; Bliek, Jet; Coze, Carole; Eggermann, Thomas; Ferrero, Giovanni B; Kratz, Christian; Bouc, Yves Le; Maas, Saskia M; Mackay, Deborah J G; Maher, Eamonn R; Mussa, Alessandro; Netchine, Irene | |
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results | 2018 | Calcagni, Giulio*; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, Maria Cristina; Baban, Anwar; Albanese, Sonia B.; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B.; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P.; Tuo, Giulia; Russo, Maria Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno | |
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement | 2018 | Brioude, Frédéric; Kalish, Jennifer M; Mussa, Alessandro; Foster, Alison C; Bliek, Jet; Ferrero, Giovanni Battista; Boonen, Susanne E; Cole, Trevor; Baker, Robert; Bertoletti, Monica; Cocchi, Guido; Coze, Carole; De Pellegrin, Maurizio; Hussain, Khalid; Ibrahim, Abdulla; Kilby, Mark D; Krajewska-Walasek, Malgorzata; Kratz, Christian P; Ladusans, Edmund J; Lapunzina, Pablo; Le Bouc, Yves; Maas, Saskia M; Macdonald, Fiona; Õunap, Katrin; Peruzzi, Licia; Rossignol, Sylvie; Russo, Silvia; Shipster, Caroleen; Skórka, Agata; Tatton-Brown, Katrina; Tenorio, Jair; Tortora, Chiara; Grønskov, Karen; Netchine, Irène; Hennekam, Raoul C; Prawitt, Dirk; Tümer, Zeynep; Eggermann, Thomas; Mackay, Deborah J G; Riccio, Andrea; Maher, Eamonn R | |
Phenotype evolution and health issues of adult patients affected by Beckwith-Wiedemann Syndrome | 2018 | gazzin andrea, carli diana, molinatto cristina, cardaropoli simona, mussa alessandro, ferrero giovanni battista | |
Serum alpha-fetoprotein screening for hepatoblastoma in Beckwith–Wiedemann syndrome | 2017 | Mussa, Alessandro; Ferrero, Giovanni Battista | |
Structural, Functional, and Clinical Characterization of a Novel PTPN11 Mutation Cluster Underlying Noonan Syndrome | 2017 | Pannone, Luca; Bocchinfuso, Gianfranco; Flex, Elisabetta; Rossi, Cesare; Baldassarre, Giuseppina; Lissewski, Christina; Pantaleoni, Francesca; Consoli, Federica; Lepri, Francesca; Magliozzi, Monia; Anselmi, Massimiliano; Delle Vigne, Silvia; Sorge, Giovanni; Karaer, Kadri; Cuturilo, Goran; Sartorio, Alessandro; Tinschert, Sigrid; Accadia, Maria; Digilio, Maria C.; Zampino, Giuseppe; De Luca, Alessandro; Cavé, Hélène; Zenker, Martin; Gelb, Bruce D.; Dallapiccola, Bruno; Stella, Lorenzo; Ferrero, Giovanni B.; Martinelli, Simone; Tartaglia, Marco | |
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes | 2017 | Giorgio, Elisa; Brussino, Alessandro; Biamino, Elisa; Belligni, Elga Fabia; Bruselles, Alessandro; Ciolfi, Andrea; Caputo, Viviana; Pizzi, Simone; Calcia, Alessandro; Di Gregorio, Eleonora; Cavalieri, Simona; Mancini, Cecilia; Pozzi, Elisa; Ferrero, Marta; Riberi, Evelise; Borelli, Iolanda; Amoroso, Antonio; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
Constitutional bone impairment in Noonan syndrome | 2017 | Baldassarre, Giuseppina; Mussa, Alessandro; Carli, Diana; Molinatto, Cristina; Ferrero, Giovanni Battista | |
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results | 2017 | Calcagni, Giulio; Limongelli, Giuseppe; D'Ambrosio, Angelo; Gesualdo, Francesco; Digilio, M Cristina; Baban, Anwar; Albanese, Sonia B; Versacci, Paolo; De Luca, Enrica; Ferrero, Giovanni B; Baldassarre, Giuseppina; Agnoletti, Gabriella; Banaudi, Elena; Marek, Jan; Kaski, Juan P; Tuo, Giulia; Russo, M Giovanna; Pacileo, Giuseppe; Milanesi, Ornella; Messina, Daniela; Marasini, Maurizio; Cairello, Francesca; Formigari, Roberto; Brighenti, Maurizio; Dallapiccola, Bruno; Tartaglia, Marco; Marino, Bruno | |
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant | 2017 | Borghesi, Alessandro; Mencarelli, Maria Antonietta; Memo, Luigi; Ferrero, Giovanni Battista; Bartuli, Andrea; Genuardi, Maurizio; Stronati, Mauro; Villani, Alberto; Renieri, Alessandra; Corsello, Giovanni | |
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome | 2017 | Mussa, Alessandro; Molinatto, Cristina; Cerrato, Flavia; Palumbo, Orazio; Carella, Massimo; Baldassarre, Giuseppina; Carli, Diana; Peris, Clementina; Riccio, Andrea; Ferrero, Giovanni Battista | |
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients | 2017 | Montin, Davide; Licciardi, Francesco; Giorgio, Elisa; Ciolfi, Andrea; Pizzi, Simone; Mussa, Alessandro; Meazza, Raffaella; Tartaglia, Marco; Brusco, Alfredo; Pende, Daniela; Ferrero, Giovanni Battista | |
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder | 2017 | Lim ET; Uddin M; De Rubeis S; Chan Y; Kamumbu AS; Zhang X; D'Gama AM; Kim SN; Hill RS; Goldberg AP; Poultney C; Minshew NJ; Kushima I; Aleksic B; Ozaki N; Parellada M; Arango C; Penzol MJ; Carracedo A; Kolevzon A; Hultman CM; Weiss LA; Fromer M; Chiocchetti AG; Freitag CM; Church GM; Scherer SW; Buxbaum JD; Walsh CA; Autism Sequencing Consortium including Aleksic B; Anney R; Barbosa M; Barrett J; Betancur C; Bishop S; Brusco A; Buxbaum JD; Carracedo A; Chiocchetti AG; Chung BHY; Cook E; Coon H; Cutler DJ; Daly M; De Rubeis S; Doan R; Fernández-Prieto M; Ferrero GB; Freitag CM; Fromer M; Gargus J; Geschwind D; Gill M; Gómez-Guerrero L; Hansen-Kiss E; He X; Herman G; Hertz-Picciotto I; Hultman C; Iliadou B; Ionita-Laza I; Jugessur A; Knudsen GP; Kolevzon A; Kosmicki J; Kushima I; Lee SL; Lehner T; Lennertz S; Lim E; Maciel P; Magnus P; Manoach D; Minshew N; Morrow E; Mulle J; Neale B; Ozaki N; Palotie A; Parellada M; Passos-Bueno MR; Pericak-Vance M; Persico A; Pessah I; Reichenberg A; Reichert J; Renieri A; Robinson E; Samocha K; Sanders S; Sandin S; Santangelo SL; Satterstrom K; Schafer C; Schellenberg G; Scherer S; Senthil G; Silva M; Singh T; Siper PM; Soares G; Stevens C; Stoltenberg C; Surén P; Sutcliffe JS; Szatmari P; Tassone F; Thurm A; Walsh C; Weiss L; Werling D; Willsey J; Xu X; Yu TW; Yuen R; Zwick ME | |
PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts | 2017 | De Santis, Maria Chiara; Sala, Valentina; Martini, Miriam; Ferrero, Giovanni Battista; Hirsch, Emilio | |
Nomenclature and definition in asymmetric regional body overgrowth | 2017 | Kalish, Jennifer M; Biesecker, Leslie G.; Brioude, Frederic; Deardorff, Matthew A.; Di Cesare-Merlone, Alessandra; Druley, Todd; Ferrero, Giovanni B.; Lapunzina, Pablo; Larizza, Lidia; Maas, Saskia; Macchiaiolo, Marina; Maher, Eamonn R.; Maitz, Silvia; Martinez-Agosto, Julian A.; Mussa, Alessandro; Robinson, Peter; Russo, Silvia; Selicorni, Angelo; Hennekam, Raoul C. | |
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability | 2017 | Reggiani, Claudio; Coppens, Sandra; Sekhara, Tayeb; Dimov, Ivan; Pichon, Bruno; Lufin, Nicolas; Addor, Marie-Claude; Belligni, Elga Fabia; Digilio, Maria Cristina; Faletra, Flavio; Ferrero, Giovanni Battista; Gerard, Marion; Isidor, Bertrand; Joss, Shelagh; Niel-Bütschi, Florence; Perrone, Maria Dolores; Petit, Florence; Renieri, Alessandra; Romana, Serge; Topa, Alexandra; Vermeesch, Joris Robert; Lenaerts, Tom; Casimir, Georges; Abramowicz, Marc; Bontempi, Gianluca; Vilain, Catheline; Deconinck, Nicolas; Smits, Guillaume | |
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes | 2017 | DI GREGORIO, Eleonora; Riberi, Evelise; Belligni, ELGA FABIA; Biamino, Elisa; Spielmann, Malte; Ala, Ugo; Calcia, Alessandro; Bagnasco, Irene; Carli, Diana; Gai, Giorgia; Giordano, Mara; Guala, Andrea; Keller, Roberto; Mandrile, Giorgia; Arduino, Carlo; Maffè, Antonella; Naretto, VALERIA GIORGIA; Sirchia, Fabio; Sorasio, Lorena; Ungari, Silvana; Zonta, Andrea; Zacchetti, Giulia; Talarico, Flavia; Pappi, Patrizia; Cavalieri, Simona; Giorgio, Elisa; Mancini, Cecilia; Ferrero, Marta; Brussino, Alessandro; Savin, Elisa; Gandione, Marina; Pelle, Alessandra; Giachino, Daniela Francesca; DE MARCHI, Mario; Restagno, Gabriella; Provero, Paolo; Silengo, Margherita Cirillo; Grosso, Enrico; Buxbaum, Joseph D; Pasini, Barbara; De Rubeis, Silvia; Brusco, Alfredo; Ferrero, Giovanni Battista | |
Genetica dell'autismo | 2016 | Elisa Biamino; Marco Gregnanin; Alfredo Brusco; Giovanni Battista Ferrero | |
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes | 2016 | Russo, Silvia; Calzari, Luciano; Mussa, Alessandro; Mainini, Ester; Cassina, Matteo; Di Candia, Stefania; Clementi, Maurizio; Guzzetti, Sara; Tabano, Silvia; Miozzo, Monica; Sirchia, Silvia; Finelli, Palma; Prontera, Paolo; Maitz, Silvia; Sorge, Giovanni; Calcagno, Annalisa; Maghnie, Mohamad; Divizia, Maria Teresa; Melis, Daniela; Manfredini, Emanuela; Ferrero, Giovanni Battista; Pecile, Vanna; Larizza, Lidia | |
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome: A paradigm for genomic medicine | 2016 | Mussa, A.; Russo, S.; Larizza, L.; Riccio, A.; Ferrero, G.B | |
Cover Image, Volume 170A, Number 7, July 2016 | 2016 | Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
Recommendations of the Scientific Committee of the Italian Beckwith-Wiedemann Syndrome Association on the diagnosis, Management and follow-up of the syndrome | 2016 | Mussa, Alessandro; Di Candia, Stefania; Russo, Silvia; Catania, Serena; De Pellegrin, Maurizio; Di Luzio, Luisa; Ferrari, Mario; Tortora, Chiara; Meazzini, Maria Costanza; Brusati, Roberto; Milani, Donatella; Zampino, Giuseppe; Montirosso, Rosario; Riccio, Andrea; Selicorni, Angelo; Cocchi, Guido; Ferrero, Giovanni Battista | |
Fetal growth patterns in Beckwith-Wiedemann syndrome | 2016 | Mussa, A; Russo, S.; de Crescenzo, A.; Freschi, A.; Calzari, L.; Maitz, S.; Macchiaiolo, M.; Molinatto, C.; Baldassarre, G.; Mariani, M.; Tarani, L.; Bedeschi, M.F.; Milani, D.; Melis, D.; Bartuli, A.; Cubellis, M.V.; Selicorni, A.; Silengo, M.C.; Larizza, L.; Riccio, A.; Ferrero, G.B. | |
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol. | 2016 | Mussa, Alessandro; Molinatto, Cristina; Baldassarre, Giuseppina; Riberi, Evelise; Russo, Silvia; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista | |
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome | 2016 | Mussa, Alessandro; Russo, Silvia; De Crescenzo, Agostina; Freschi, Andrea; Calzari, Luciano; Maitz, Silvia; Macchiaiolo, Marina; Molinatto, Cristina; Baldassarre, Giuseppina; Mariani, Milena; Tarani, Luigi; Bedeschi, Maria Francesca; Milani, Donatella; Melis, Daniela; Bartuli, Andrea; Cubellis, Maria Vittoria; Selicorni, Angelo; Cirillo Silengo, Margherita; Larizza, Lidia; Riccio, Andrea; Ferrero, Giovanni Battista | |
Prevention and management of hearing loss in syndromic craniosynostosis: A case series | 2016 | Biamino, Elisa; Canale, Andrea; Lacilla, Michelangelo; Marinosci, Annalisa; Dagna, Federico; Genitori, Lorenzo; Peretta, Paola; Silengo, Margherita; Albera, Roberto; Ferrero, Giovanni Battista | |
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples | 2016 | Giorgio, Elisa; Ciolfi, Andrea; Biamino, Elisa; Caputo, Viviana; Di Gregorio, Eleonora; Belligni, Elga Fabia; Calcia, Alessandro; Gaidolfi, Elena; Bruselles, Alessandro; Mancini, Cecilia; Cavalieri, Simona; Molinatto, Cristina; Cirillo, Margherita; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo | |
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity | 2016 | Biamino, Elisa; Di Gregorio, Eleonora; Belligni, Elga Fabia; Keller, Roberto; Riberi, Evelise; Gandione, Marina; Calcia, Alessandro; Mancini, Cecilia; Giorgio, Elisa; Cavalieri, Simona; Pappi, Patrizia; Talarico, Flavia; Fea, Antonio M; De Rubeis, Silvia; Cirillo Silengo, Margherita; Ferrero, Giovanni Battista; Brusco, Alfredo | |
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability | 2015 | Gandin, I; Faletra, F; Faletra, F; Carella, M; Pecile, V; Ferrero, Giovanni Battista; Biamino, Elisa; Palumbo, P; Palumbo, O; Bosco, P; Romano, C; Belcaro, C; Vozzi, D; D'Adamo, Ap | |
Screening hepatoblastoma in Beckwith-Wiedemann syndrome: A complex issue | 2015 | Mussa, Alessandro; Ferrero, Giovanni Battista |
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