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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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