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Refining Aicardi Syndrome diagnostic Criteria: an expert-based consensus using a modified Delphi approach Masnada, Silvia; De Giorgis, Valentina; Carugo, Umberto; Bahi-Buisson, Nadia; Cavallin, Mara; Corbett, Mark; Formica, Manuela; Gecz, Jozef; Petros, Natalia; Perucca, Emilio; Pichiecchio, Anna; Poli, Paolo Fusar; Sherr, Elliott H.; Veyver, Ignatia B. Van Den; Zara, Federico; Geroldinger, Martin; Veggiotti, Pierangelo; Arzimanoglou, Alexis Share Save
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Novel, complex configurations of the MARCHF6 repeat expansion associated with progressive myoclonic epilepsy and familial adult myoclonic epilepsy Bennett, Mark F.; Corbett, Mark A.; Kroes, Thessa; Canafoglia, Laura; Oliver, Karen L.; Cameron, Jillian M.; Sikta, Neblina; Munro, Jacob; Fearnley, Liam G.; Ibanez, Kristina; Tucci, Arianna; Sisodiya, Sanjay M.; Hildebrand, Michael S.; Scheffer, Ingrid E.; Courage, Carolina; Lehesjoki, Anna-Elina; Giuliano, Loretta; Didato, Giuseppe; Franceschetti, Silvana; Gecz, Jozef; Berkovic, Samuel F.; Bahlo, Melanie Share Save
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Epigenomic newborn screening for conditions with intellectual disability and autistic features in Australian newborns Alshawsh, Mohammed; Wake, Melissa; Gecz, Jozef; Corbett, Mark; Saffery, Richard; Pitt, James; Greaves, Ronda; Williams, Katrina; Field, Michael; Cheong, Jeanie; Bui, Minh; Arora, Sheena; Sadedin, Simon; Lunke, Sebastian; Wall, Meg; Amor, David J.; Godler, David E. Share Save
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Narrowing the diagnostic gap: Genomes, episignatures, long-read sequencing, and health economic analyses in an exome-negative intellectual disability cohort Dias, Kerith-Rae; Shrestha, Rupendra; Schofield, Deborah; Evans, Carey-Anne; O'Heir, Emily; Zhu, Ying; Zhang, Futao; Standen, Krystle; Weisburd, Ben; Stenton, Sarah L.; Sanchis-Juan, Alba; Brand, Harrison; Talkowski, Michael E.; Ma, Alan; Ghedia, Sondy; Wilson, Meredith; Sandaradura, Sarah A.; Smith, Janine; Kamien, Benjamin; Turner, Anne; Bakshi, Madhura; Ades, Lesley C.; Mowat, David; Regan, Matthew; McGillivray, George; Savarirayan, Ravi; White, Susan M.; Tan, Tiong Yang; Stark, Zornitza; Brown, Natasha J.; Perez-Jurado, Luis A.; Krzesinski, Emma; Hunter, Matthew F.; Akesson, Lauren; Fennell, Andrew Paul; Yeung, Alison; Boughtwood, Tiffany; Ewans, Lisa J.; Kerkhof, Jennifer; Lucas, Christopher; Carey, Louise; French, Hugh; Rapadas, Melissa; Stevanovski, Igor; Deveson, Ira W.; Cliffe, Corrina; Elakis, George; Kirk, Edwin P.; Dudding-Byth, Tracy; Fletcher, Janice; Walsh, Rebecca; Corbett, Mark A.; Kroes, Thessa; Gecz, Jozef; Meldrum, Cliff; Cliffe, Simon; Wall, Meg; Lunke, Sebastian; North, Kathryn; Amor, David J.; Field, Michael; Sadikovic, Bekim; Buckley, Michael F.; O'Donnell-Luria, Anne; Roscioli, Tony Share Save
Exome sequencing reveals genetic heterogeneity and clinically actionable findings in children with cerebral palsy Wang, Yangong; Xu, Yiran; Zhou, Chongchen; Cheng, Ye; Qiao, Niu; Shang, Qing; Xia, Lei; Song, Juan; Gao, Chao; Qiao, Yimeng; Zhang, Xiaoli; Li, Ming; Ma, Caiyun; Fan, Yangyi; Peng, Xirui; Wu, Silin; Lv, Nan; Li, Bingbing; Sun, Yanyan; Zhang, Bohao; Li, Tongchuan; Li, Hongwei; Zhang, Jin; Su, Yu; Li, Qiaoli; Yuan, Junying; Liu, Lei; Moreno-De-Luca, Andres; Maclennan, Alastair H.; Gecz, Jozef; Zhu, Dengna; Wang, Xiaoyang; Zhu, Changlian; Xing, Qinghe Share Save
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly Herbst, Charlotte; Bothe, Viktoria; Wegler, Meret; Axer-Schaefer, Susanne; Audebert-Bellanger, Severine; Gecz, Jozef; Cogne, Benjamin; Feldman, Hagit Baris; Horn, Anselm H. C.; Hurst, Anna C. E.; Kelly, Melissa A.; Kruer, Michael C.; Kurolap, Alina; Laquerriere, Annie; Li, Megan; Mark, Paul R.; Morawski, Markus; Nizon, Mathilde; Pastinen, Tomi; Polster, Tilman; Saugier-Veber, Pascale; SeSong, Jang; Sticht, Heinrich; Stieler, Jens T.; Thifffault, Isabelle; van Eyk, Clare L.; Marcorelles, Pascale; Vezain-Mouchard, Myriam; Abou Jamra, Rami; Oppermann, Henry Share Save
Proteomic analysis of the developing mammalian brain links PCDH19 to the Wnt/β-catenin signalling pathway de Nys, Rebekah; Gardner, Alison; van Eyk, Clare; Mincheva-Tasheva, Stefka; Thomas, Paul; Bhattacharjee, Rudrarup; Jolly, Lachlan; Martinez-Garay, Isabel; Fox, Ian W. J.; Kamath, Karthik Shantharam; Kumar, Raman; Gecz, Jozef Share Save
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt Shepherdson, James L.; Hutchison, Katie; Don, Dilan Wellalage; McGillivray, George; Choi, Tae-Ik; Allan, Carolyn A.; Amor, David J.; Banka, Siddharth; Basel, Donald G.; Buch, Laura D.; Carere, Deanna Alexis; Carroll, Renee; Clayton-Smith, Jill; Crawford, Ali; Duno, Morten; Faivre, Laurence; Gilfillan, Christopher P.; Gold, Nina B.; Gripp, Karen W.; Hobson, Emma; Holtz, Alexander M.; Innes, A. Micheil; Isidor, Bertrand; Jackson, Adam; Katsonis, Panagiotis; Kesh, Leila Amel Riazat; Kury, Sebastien; Lecoquierre, Francois; Lockhart, Paul; Maraval, Julien; Matsumoto, Naomichi; McCarrier, Julie; McCarthy, Josephine; Miyake, Noriko; Moey, Lip Hen; Nemeth, Andrea H.; Ostergaard, Elsebet; Patel, Rushina; Pope, Kate; Posey, Jennifer E.; Schnur, Rhonda E.; Shaw, Marie; Stolerman, Elliot; Taylor, Julie P.; Wadman, Erin; Wakeling, Emma; White, Susan M.; Wong, Lawrence C.; Lupski, James R.; Lichtarge, Olivier; Corbett, Mark A.; Gecz, Jozef; Nicolet, Charles M.; Farnham, Peggy J.; Kim, Cheol-Hee; Shinawi, Marwan Share Save
Compromised transcription-mRNA export factor THOC2 causes R-loop accumulation, DNA damage and adverse neurodevelopment Bhattacharjee, Rudrarup; Jolly, Lachlan A.; Corbett, Mark A.; Wee, Ing Chee; Rao, Sushma R.; Gardner, Alison E.; Ritchie, Tarin; van Hugte, Eline J. H.; Ciptasari, Ummi; Piltz, Sandra; Noll, Jacqueline E.; Nazri, Nazzmer; van Eyk, Clare L.; White, Melissa; Fornarino, Dani; Poulton, Cathryn; Baynam, Gareth; Collins-Praino, Lyndsey E.; Snel, Marten F.; Nadif Kasri, Nael; Hemsley, Kim M.; Thomas, Paul Q.; Kumar, Raman; Gecz, Jozef Share Save
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Spliceosome malfunction causes neurodevelopmental disorders with overlapping features Li, Dong; Wang, Qin; Bayat, Allan; Battig, Mark R.; Zhou, Yijing; Bosch, Danielle G. M.; van Haaften, Gijs; Granger, Leslie; Petersen, Andrea K.; Perez-Jurado, Luis A.; Aznar-Lain, Gemma; Aneja, Anushree; Hancarova, Miroslava; Bendova, Sarka; Schwarz, Martin; Pourova, Radka Kremlikova; Sedlacek, Zdenek; Keena, Beth A.; March, Michael E.; Hou, Cuiping; O'Connor, Nora; Bhoj, Elizabeth J.; Harr, Margaret H.; Lemire, Gabrielle; Boycott, Kym M.; Towne, Meghan; Li, Megan; Tarnopolsky, Mark; Brady, Lauren; Parker, Michael J.; Faghfoury, Hanna; Parsley, Lea Kristin; Agolini, Emanuele; Dentici, Maria Lisa; Novelli, Antonio; Wright, Meredith; Palmquist, Rachel; Lai, Khanh; Scala, Marcello; Striano, Pasquale; Iacomino, Michele; Zara, Federico; Cooper, Annina; Maarup, Timothy J.; Byler, Melissa; Lebel, Robert Roger; Balci, Tugce B.; Louie, Raymond; Lyons, Michael; Douglas, Jessica; Nowak, Catherine; Afenjar, Alexandra; Hoyer, Juliane; Keren, Boris; Maas, Saskia M.; Motazacker, Mahdi M.; Martinez-Agosto, Julian A.; Rabani, Ahna M.; McCormick, Elizabeth M.; Falk, Marni J.; Ruggiero, Sarah M.; Helbig, Ingo; Moller, Rikke S.; Tessarollo, Lino; Ardori, Francesco Tomassoni; Palko, Mary Ellen; Hsieh, Tzung-Chien; Krawitz, Peter M.; Ganapathi, Mythily; Gelb, Bruce D.; Jobanputra, Vaidehi; Wilson, Ashley; Greally, John; Jacquemont, Sebastien; Jizi, Khadije; Bruel, Ange-Line; Quelin, Chloe; Misra, Vinod K.; Chick, Erika; Romano, Corrado; Greco, Donatella; Arena, Alessia; Morleo, Manuela; Nigro, Vincenzo; Seyama, Rie; Uchiyama, Yuri; Matsumoto, Naomichi; Taira, Ryoji; Tashiro, Katsuya; Sakai, Yasunari; Yigit, Gokhan; Wollnik, Bernd; Wagner, Michael; Kutsche, Barbara; Hurst, Anna C. E.; Thompson, Michelle L.; Schmidt, Ryan; Randolph, Linda; Spillmann, Rebecca C.; Shashi, Vandana; Higginbotham, Edward J.; Cordeiro, Dawn; Carnevale, Amanda; Costain, Gregory; Khan, Tayyaba; Funalot, Benoit; Mau-Them, Frederic Tran; Moya, Luis Fernandez Garcia; Garcia-Minaur, Sixto; Osmond, Matthew; Chad, Lauren; Quercia, Nada; Carrasco, Diana; Li, Chumei; Sanchez-Valle, Amarilis; Kelley, Meghan; Nizon, Mathilde; Jensson, Brynjar O.; Sulem, Patrick; Stefansson, Kari; Gorokhova, Svetlana; Busa, Tiffany; Rio, Marlene; Habdallah, Hamza Hadj; Lesieur-Sebellin, Marion; Amiel, Jeanne; Pingault, Veronique; Mercier, Sandra; Vincent, Marie; Philippe, Christophe; Fatus-Fauconnier, Clemence; Friend, Kathryn; Halligan, Rebecca K.; Biswas, Sunita; Rosser, Jane; Shoubridge, Cheryl; Corbett, Mark; Barnett, Christopher; Gecz, Jozef; Leppig, Kathleen; Slavotinek, Anne; Marcelis, Carlo; Pfundt, Rolph; de Vries, Bert B. A.; van Slegtenhorst, Marjon A.; Brooks, Alice S.; Cogne, Benjamin; Rambaud, Thomas; Tumer, Zeynep; Zackai, Elaine H.; Akizu, Naiara; Song, Yuanquan; Hakonarson, Hakon Share Save
Stuttering associated with a pathogenic variant in the chaperone protein cyclophilin 40 Morgan, Angela T.; Scerri, Thomas S.; Vogel, Adam P.; Reid, Christopher A.; Quach, Mara; Jackson, Victoria E.; McKenzie, Chaseley; Burrows, Emma L.; Bennett, Mark F.; Turner, Samantha J.; Reilly, Sheena; Horton, Sarah E.; Block, Susan; Kefalianos, Elaina; Frigerio-Domingues, Carlos; Sainz, Eduardo; Rigbye, Kristin A.; Featherby, Travis J.; Richards, Kay L.; Kueh, Andrew; Herold, Marco J.; Corbett, Mark A.; Gecz, Jozef; Helbig, Ingo; Thompson-Lake, Daisy G. Y.; Liegeois, Frederique J.; Morell, Robert J.; Hung, Andrew; Drayna, Dennis; Scheffer, Ingrid E.; Wright, David K.; Bahlo, Melanie; Hildebrand, Michael S. Share Save
Macrocephaly and developmental delay caused by missense variants in RAB5C Koop, Klaas; Yuan, Weimin; Tessadori, Federico; Rodriguez-Polanco, Wilmer R.; Grubbs, Jeremy; Zhang, Bo; Osmond, Matt; Graham, Gail; Sawyer, Sarah; Conboy, Erin; Vetrini, Francesco; Treat, Kayla; Ploski, Rafal; Pienkowski, Victor Murcia; Klosowska, Anna; Fieg, Elizabeth; Krier, Joel; Mallebranche, Coralie; Alban, Ziegler; Aldinger, Kimberly A.; Ritter, Deborah; Macnamara, Ellen; Sullivan, Bonnie; Herriges, John; Alaimo, Joseph T.; Helbig, Catherine; Ellis, Colin A.; van Eyk, Clare; Gecz, Jozef; Farrugia, Daniel; Osei-Owusu, Ikeoluwa; Ades, Lesley; van den Boogaard, Marie-Jose; Fuchs, Sabine; Bakker, Jeroen; Duran, Karen; Dawson, Zachary D.; Lindsey, Anika; Huang, Huiyan; Baldridge, Dustin; Silverman, Gary A.; Grant, Barth D.; Raizen, David; van Haaften, Gijs; Pak, Stephen C.; Rehmann, Holger; Schedl, Tim; van Hasselt, Peter Share Save
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