Sfoglia per Autore
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity
2024-01-01 Trajkova, Slavica; Kerkhof, Jennifer; Rossi Sebastiano, Matteo; Pavinato, Lisa; Ferrero, Enza; Giovenino, Chiara; Carli, Diana; Di Gregorio, Eleonora; Marinoni, Roberta; Mandrile, Giorgia; Palermo, Flavia; Carestiato, Silvia; Cardaropoli, Simona; Pullano, Verdiana; Rinninella, Antonina; Giorgio, Elisa; Pippucci, Tommaso; Dimartino, Paola; Rzasa, Jessica; Rooney, Kathleen; McConkey, Haley; Petlichkovski, Aleksandar; Pasini, Barbara; Sukarova-Angelovska, Elena; Campbell, Christopher M; Metcalfe, Kay; Jenkinson, Sarah; Banka, Siddharth; Mussa, Alessandro; Ferrero, Giovanni Battista; Sadikovic, Bekim; Brusco, Alfredo
Identification of the DNA methylation signature of Mowat-Wilson syndrome
2024-01-01 Caraffi, Stefano Giuseppe; van der Laan, Liselot; Rooney, Kathleen; Trajkova, Slavica; Zuntini, Roberta; Relator, Raissa; Haghshenas, Sadegheh; Levy, Michael A; Baldo, Chiara; Mandrile, Giorgia; Lauzon, Carolyn; Cordelli, Duccio Maria; Ivanovski, Ivan; Fetta, Anna; Sukarova, Elena; Brusco, Alfredo; Pavinato, Lisa; Pullano, Verdiana; Zollino, Marcella; McConkey, Haley; Tartaglia, Marco; Ferrero, Giovanni Battista; Sadikovic, Bekim; Garavelli, Livia
Adolescent gender dysphoria management: position paper from the Italian Academy of Pediatrics, the Italian Society of Pediatrics, the Italian Society for Pediatric Endocrinology and Diabetes, the Italian Society of Adolescent Medicine and the Italian Society of Child and Adolescent Neuropsychiatry
2024-01-01 Calcaterra, Valeria; Tornese, Gianluca; Zuccotti, Gianvincenzo; Staiano, Annamaria; Cherubini, Valentino; Gaudino, Rossella; Fazzi, Elisa Maria; Barbi, Egidio; Chiarelli, Francesco; Corsello, Giovanni; Esposito, Susanna Maria Roberta; Ferrara, Pietro; Iughetti, Lorenzo; Laforgia, Nicola; Maghnie, Mohamad; Marseglia, Gianluigi; Perilongo, Giorgio; Pettoello-Mantovani, Massimo; Ruggieri, Martino; Russo, Giovanna; Salerno, Mariacarolina; Striano, Pasquale; Valerio, Giuliana; Wasniewska, Malgorzata; null, null; Agosti, Massimo; Agostoni, Carlo Virginio; Aiuti, Alessandro; Azzari, Chiara; Badolato, Raffaele; Balduzzi, Adriana; Baraldi, Eugenio; Canani, Roberto Berni; Biffi, Alessandra; Biondi, Andrea; Bisogno, Gianni; Pierri, Nicola Brunetti; Carnielli, Virginio; Cianfarani, Stefano; Cogo, Paola; Corvaglia, Luigi; Dani, Carlo; Di Salvo, Giovanni; Fagioli, Franca; Fanos, Vassilios; Ferrero, Giovanni Battista; Francavilla, Ruggiero; Galli, Luisa; Gazzolo, Diego; Giaquinto, Carlo; Giordano, Paola; Gitto, Eloisa; Grosso, Salvatore; Guarino, Alfredo; Indrio, Flavia; Lanari, Marcello; Lionetti, Paolo; Locatelli, Franco; Lombardo, Fortunato; Maffeis, Claudio; Marino, Bruno; Midulla, Fabio; Del Giudice, Emanuele Miraglia; Del Giudice, Michele Miraglia; Montini, Giovanni; Parenti, Giancarlo; Parisi, Pasquale; Peroni, Diego; Perrotta, Silverio; Piacentini, Giorgio; Pietrobelli, Angelo; Raimondi, Francesco; Ramenghi, Ugo; Ravelli, Angelo; Romano, Claudio; Rossi, Francesca; Rossi, Paolo; Damiano, Vincenzo Salpietro; Spalice, Alberto; Suppiej, Agnese; Troncone, Riccardo; Verrotti, Alberto
DNA methylation episignature and comparative epigenomic profiling for Pitt-Hopkins syndrome caused by TCF4 variants
2024-01-01 van der Laan, Liselot; Lauffer, Peter; Rooney, Kathleen; Silva, Ananília; Haghshenas, Sadegheh; Relator, Raissa; Levy, Michael A; Trajkova, Slavica; Huisman, Sylvia A; Bijlsma, Emilia K; Kleefstra, Tjitske; van Bon, Bregje W; Baysal, Özlem; Zweier, Christiane; Palomares-Bralo, María; Fischer, Jan; Szakszon, Katalin; Faivre, Laurence; Piton, Amélie; Mesman, Simone; Hochstenbach, Ron; Elting, Mariet W; van Hagen, Johanna M; Plomp, Astrid S; Mannens, Marcel M A M; Alders, Mariëlle; van Haelst, Mieke M; Ferrero, Giovanni B; Brusco, Alfredo; Henneman, Peter; Sweetser, David A; Sadikovic, Bekim; Vitobello, Antonio; Menke, Leonie A
Missense variants in RPH3A cause defects in excitatory synaptic function and are associated with a clinically variable neurodevelopmental disorder
2023-01-01 Pavinato, Lisa; Stanic, Jennifer; Barzasi, Marta; Gurgone, Antonia; Chiantia, Giuseppe; Cipriani, Valentina; Eberini, Ivano; Palazzolo, Luca; Di Luca, Monica; Costa, Alex; Marcantoni, Andrea; Biamino, Elisa; Spada, Marco; Hiatt, Susan M; Kelley, Whitley V; Vestito, Letizia; Sisodiya, Sanjay M; Efthymiou, Stephanie; Chand, Prem; Kaiyrzhanov, Rauan; Bruselles, Alessandro; Cardaropoli, Simona; Tartaglia, Marco; De Rubeis, Silvia; Buxbaum, Joseph D; Smedley, Damian; Ferrero, Giovanni Battista; Giustetto, Maurizio; Gardoni, Fabrizio; Brusco, Alfredo
The somatic p.T81dup variant in AKT3 gene underlies a mild cerebral phenotype and expands the spectrum including capillary malformation and lateralized overgrowth
2023-01-01 Luca, Maria; Piglionica, Marilidia; Bagnulo, Rosanna; Cardaropoli, Simona; Carli, Diana; Turchiano, Antonella; Coppo, Paola; Pantaleo, Antonino; Iacoviello, Matteo; Ferrero, Giovanni Battista; Mussa, Alessandro; Resta, Nicoletta
Enhancer hijacking at the ARHGAP36 locus is associated with connective tissue to bone transformation
2023-01-01 Melo, Uirá Souto; Jatzlau, Jerome; Prada-Medina, Cesar A; Flex, Elisabetta; Hartmann, Sunhild; Ali, Salaheddine; Schöpflin, Robert; Bernardini, Laura; Ciolfi, Andrea; Moeinzadeh, M-Hossein; Klever, Marius-Konstantin; Altay, Aybuge; Vallecillo-García, Pedro; Carpentieri, Giovanna; Delledonne, Massimo; Ort, Melanie-Jasmin; Schwestka, Marko; Ferrero, Giovanni Battista; Tartaglia, Marco; Brusco, Alfredo; Gossen, Manfred; Strunk, Dirk; Geißler, Sven; Mundlos, Stefan; Stricker, Sigmar; Knaus, Petra; Giorgio, Elisa; Spielmann, Malte
CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
2023-01-01 Pavinato, Lisa; Delle Vedove, Andrea; Carli, Diana; Ferrero, Marta; Carestiato, Silvia; Howe, Jennifer L; Agolini, Emanuele; Coviello, Domenico A; van de Laar, Ingrid; Au, Ping Yee Billie; Di Gregorio, Eleonora; Fabbiani, Alessandra; Croci, Susanna; Mencarelli, Maria Antonietta; Bruno, Lucia P; Renieri, Alessandra; Veltra, Danai; Sofocleous, Christalena; Faivre, Laurence; Mazel, Benoit; Safraou, Hana; Denommé-Pichon, Anne Sophie; van Slegtenhorst, Marjon A; Giesbertz, Noor; van Jaarsveld, Richard H; Childers, Anna; Rogers, R Curtis; Novelli, Antonio; De Rubeis, Silvia; Buxbaum, Joseph D; Scherer, Stephen W; Ferrero, Giovanni Battista; Wirth, Brunhilde; Brusco, Alfredo
Work-Up and Treatment Strategies for Individuals with PIK3CA-Related Disorders: A Consensus of Experts from the Scientific Committee of the Italian Macrodactyly and PROS Association
2023-01-01 Gazzin, Andrea; Leoni, Chiara; Viscogliosi, Germana; Borgini, Federica; Perri, Lucrezia; Iacoviello, Matteo; Piglionica, Marilidia; De Pellegrin, Maurizio; Ferrero, Giovanni Battista; Bartuli, Andrea; Zampino, Giuseppe; Buonuomo, Paola Sabrina; Resta, Nicoletta; Mussa, Alessandro
Performance Metrics of the Scoring System for the Diagnosis of the Beckwith–Wiedemann Spectrum (BWSp) and Its Correlation with Cancer Development
2023-01-01 Luca, Maria; Carli, Diana; Cardaropoli, Simona; Milani, Donatella; Cocchi, Guido; Leoni, Chiara; Macchiaiolo, Marina; Bartuli, Andrea; Tarani, Luigi; Melis, Daniela; Bontempo, Piera; D’Elia, Gemma; Prada, Elisabetta; Vitale, Raffaele; Grammegna, Angelina; Tannorella, Pierpaola; Sparago, Angela; Pignata, Laura; Riccio, Andrea; Russo, Silvia; Ferrero, Giovanni Battista; Mussa, Alessandro
Clinical exome sequencing efficacy and phenotypic expansions involving anomalous pulmonary venous return
2023-01-01 Huth, Emily A; Zhao, Xiaonan; Owen, Nichole; Luna, Pamela N; Vogel, Ida; Dorf, Inger L H; Joss, Shelagh; Clayton-Smith, Jill; Parker, Michael J; Louw, Jacoba J; Gewillig, Marc; Breckpot, Jeroen; Kraus, Alison; Sasaki, Erina; Kini, Usha; Burgess, Trent; Tan, Tiong Y; Armstrong, Ruth; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Kerstjens-Frederikse, Wihelmina S; Rankin, Julia; Helvaty, Lindsey R; Landis, Benjamin J; Geddes, Gabrielle C; McBride, Kim L; Ware, Stephanie M; Shaw, Chad A; Lalani, Seema R; Rosenfeld, Jill A; Scott, Daryl A
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 patients with PIK3CA pathogenetic variants
2023-01-01 Mussa, Alessandro; Leoni, Chiara; Iacoviello, Matteo; Carli, Diana; Ranieri, Carlotta; Pantaleo, Antonino; Buonuomo, Paola Sabrina; Bagnulo, Rosanna; Ferrero, Giovanni Battista; Bartuli, Andrea; Melis, Daniela; Maitz, Silvia; Loconte, Daria Carmela; Turchiano, Antonella; Piglionica, Marilidia; De Luisi, Annunziata; Susca, Francesco Claudio; Bukvic, Nenad; Forleo, Cinzia; Selicorni, Angelo; Zampino, Giuseppe; Onesimo, Roberta; Cappuccio, Gerarda; Garavelli, Livia; Novelli, Chiara; Memo, Luigi; Morando, Carla; Della Monica, Matteo; Accadia, Maria; Capurso, Martina; Piscopo, Carmelo; Cereda, Anna; Di Giacomo, Marilena Carmela; Saletti, Veronica; Spinelli, Alessandro Mauro; Lastella, Patrizia; Tenconi, Romano; Dvorakova, Veronika; Irvine, Alan D; Resta, Nicoletta
Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes
2023-01-01 Giovenino, Chiara; Trajkova, Slavica; Pavinato, Lisa; Cardaropoli, Simona; Pullano, Verdiana; Ferrero, Enza; Sukarova-Angelovska, Elena; Carestiato, Silvia; Salmin, Paola; Rinninella, Antonina; Battaglia, Anthony; Bertoli, Luca; Fadda, Antonio; Palermo, Flavia; Carli, Diana; Mussa, Alessandro; Dimartino, Paola; Bruselles, Alessandro; Froukh, Tawfiq; Mandrile, Giorgia; Pasini, Barbara; De Rubeis, Silvia; Buxbaum, Joseph D; Pippucci, Tommaso; Tartaglia, Marco; Rossato, Marzia; Delledonne, Massimo; Ferrero, Giovanni Battista; Brusco, Alfredo
DNA methylation episignature and comparative epigenomic profiling of HNRNPU-related neurodevelopmental disorder
2023-01-01 Rooney, Kathleen; van der Laan, Liselot; Trajkova, Slavica; Haghshenas, Sadegheh; Relator, Raissa; Lauffer, Peter; Vos, Niels; Levy, Michael A; Brunetti-Pierri, Nicola; Terrone, Gaetano; Mignot, Cyril; Keren, Boris; Billette de Villemeur, Thierry; Volker-Touw, Catharina M L; Verbeek, Nienke; van der Smagt, Jasper J; Oegema, Renske; Brusco, Alfredo; Ferrero, Giovanni Battista; Misra-Isrie, Mala; Hochstenbach, Ron; Alders, Mariëlle; Mannens, Marcel M A M; Sadikovic, Bekim; van Haelst, Mieke M; Henneman, Peter
Clinical and molecular characterization of patients affected by Beckwith-Wiedemann spectrum conceived through assisted reproduction techniques
2022-01-01 Carli, Diana; Operti, Matteo; Russo, Silvia; Cocchi, Guido; Milani, Donatella; Leoni, Chiara; Prada, Elisabetta; Melis, Daniela; Falco, Mariateresa; Spina, Jennifer; Uliana, Vera; Sara, Osimani; Sirchia, Fabio; Tarani, Luigi; Macchiaiolo, Marina; Cerrato, Flavia; Sparago, Angela; Pignata, Laura; Tannorella, Pierpaola; Cardaropoli, Simona; Bartuli, Andrea; Riccio, Andrea; Ferrero, Giovanni Battista; Mussa, Alessandro
Epilepsy in a cohort of children with Noonan syndrome and related disorders
2022-01-01 Davico, Chiara; D'Alessandro, Rossella; Borgogno, Marta; Campagna, Filippa; Torta, Francesca; Ricci, Federica; Amianto, Federico; Vittorini, Roberta; Carli, Diana; Mussa, Alessandro; Vitiello, Benedetto; Ferrero, Giovanni Battista
Identifying phenotypic expansions for congenital diaphragmatic hernia plus (CDH+) using DECIPHER data
2022-01-01 Hardcastle, Amy; Berry, Aliska M; Campbell, Ian M; Zhao, Xiaonan; Liu, Pengfei; Gerard, Amanda E; Rosenfeld, Jill A; Sisoudiya, Saumya D; Hernandez-Garcia, Andres; Loddo, Sara; Di Tommaso, Silvia; Novelli, Antonio; Dentici, Maria L; Capolino, Rossella; Digilio, Maria C; Graziani, Ludovico; Rustad, Cecilie F; Neas, Katherine; Ferrero, Giovanni B; Brusco, Alfredo; Di Gregorio, Eleonora; Wellesley, Diana; Beneteau, Claire; Joubert, Madeleine; Van Den Bogaert, Kris; Boogaerts, Anneleen; McMullan, Dominic J; Dean, John; Giuffrida, Maria G; Bernardini, Laura; Varghese, Vinod; Shannon, Nora L; Harrison, Rachel E; Lam, Wayne W K; McKee, Shane; Turnpenny, Peter D; Cole, Trevor; Morton, Jenny; Eason, Jacqueline; Jones, Marilyn C; Hall, Rebecca; Wright, Michael; Horridge, Karen; Shaw, Chad A; Chung, Wendy K; Scott, Daryl A
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
2022-01-01 Giuliana Giannuzzi; Nicolas Chatron; Katrin Mannik; Chiara Auwerx; Sylvain Pradervand; Gilles Willemin; Kendra Hoekzema; Xander Nuttle; Jacqueline Chrast; Marie C. Sadler; Eleonora Porcu; Nicolas Chatron; Katrin Männik; Damien Sanlaville; Caroline Schluth-Bolard; Cédric Le Caignec; Mathilde Nizon; Sandra Martin; Sébastien Jacquemont; Armand Bottani; Marion Gérard; Sacha Weber; Aurélia Jacquette; Catherine Vincent-Delorme; Aurora Currò; Francesca Mari; Alessandra Renieri; Alfredo Brusco; Giovanni Battista Ferrero; Yann Herault; Bertrand Isidor; Brigitte Gilbert-Dussardier; Evan E. Eichler; Zoltan Kutalik; Alexandre Reymond
Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus
2022-01-01 Sy, Mary R; Chauhan, Jaynee; Prescott, Katrina; Imam, Aliza; Kraus, Alison; Beleza, Ana; Salkeld, Lee; Hosdurga, Saraswati; Parker, Michael; Vasudevan, Pradeep; Islam, Lily; Goel, Himanshu; Bain, Nicole; Park, Soo-Mi; Mohammed, Shehla; Dieterich, Klaus; Coutton, Charles; Satre, Véronique; Vieville, Gaëlle; Donaldson, Alan; Beneteau, Claire; Ghoumid, Jamal; Van Den Bogaert, Kris; Boogaerts, Anneleen; Boudry, Elise; Vanlerberghe, Clémence; Petit, Florence; Bernardini, Laura; Torres, Barbara; Mattina, Teresa; Carli, Diana; Mandrile, Giorgia; Pinelli, Michele; Brunetti-Pierri, Nicola; Neas, Katherine; Beddow, Rachel; Tørring, Pernille M; Faletra, Flavio; Spedicati, Beatrice; Gasparini, Paolo; Mussa, Alessandro; Ferrero, Giovanni Battista; Lampe, Anne; Lam, Wayne; Bi, Weimin; Bacino, Carlos A; Kuwahara, Akela; Bush, Jeffrey O; Zhao, Xiaonan; Luna, Pamela N; Shaw, Chad A; Rosenfeld, Jill A; Scott, Daryl A
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
2022-01-01 Pavinato L.; Villamor-Paya M.; Sanchiz-Calvo M.; Andreoli C.; Gay M.; Vilaseca M.; Arauz-Garofalo G.; Ciolfi A.; Bruselles A.; Pippucci T.; Prota V.; Carli D.; Giorgio E.; Radio F.C.; Antona V.; Giuffre M.; Ranguin K.; Colson C.; De Rubeis S.; Dimartino P.; Buxbaum J.D.; Ferrero G.B.; Tartaglia M.; Martinelli S.; Stracker T.H.; Brusco A.
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 | |
| 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 | |
| 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 | |
| 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. |
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