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Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Le Duc, Diana; Giulivi, Cecilia; Hiatt, Susan M; Napoli, Eleonora; Panoutsopoulos, Alexios; Harlan De Crescenzo, Angelo; Kotzaeridou, Urania; Syrbe, Steffen; Anagnostou, Evdokia; Azage, Meron; Bend, Renee; Begtrup, Amber; Brown, Natasha J; Büttner, Benjamin; Cho, Megan T; Cooper, Gregory M; Doering, Jan H; Dubourg, Christèle; Everman, David B; Hildebrand, Michael S; Santos, Francis Jeshira Reynoso; Kellam, Barbara; Keller-Ramey, Jennifer; Lemke, Johannes R; Liu, Shuxi; Niyazov, Dmitriy; Payne, Katelyn; Person, Richard; Quélin, Chloé; Schnur, Rhonda E; Smith, Brooke T; Strober, Jonathan; Walker, Susan; Wallis, Mathew; Walsh, Laurence; Yang, Sandra; Yuen, Ryan K C; Ziegler, Andreas; Sticht, Heinrich; Pride, Michael C; Orosco, Lori; Martínez-Cerdeño, Verónica; Silverman, Jill L; Crawley, Jacqueline N; Scherer, Stephen W; Zarbalis, Konstantinos S; Jamra, Rami.
Afiliação
  • Le Duc D; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
  • Giulivi C; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
  • Hiatt SM; MIND Institute, University of California Davis, Sacramento, CA, USA.
  • Napoli E; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, USA.
  • Panoutsopoulos A; Department of Molecular Biosciences, School of Veterinary Medicine, University of California Davis, Davis, CA, USA.
  • Harlan De Crescenzo A; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.
  • Kotzaeridou U; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA.
  • Syrbe S; Department of Pathology and Laboratory Medicine, University of California at Davis, Sacramento, CA, USA.
  • Anagnostou E; Institute for Pediatric Regenerative Medicine, Shriners Hospitals for Children, Sacramento, CA, USA.
  • Azage M; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
  • Bend R; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
  • Begtrup A; Bloorview Research Institute, University of Toronto, Toronto, Canada.
  • Brown NJ; Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA, USA.
  • Büttner B; Greenwood Genetic Center, Greenwood, SC, USA.
  • Cho MT; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
  • Cooper GM; Department of Pediatrics, University of Melbourne, VIC, Australia.
  • Doering JH; Victorian Clinical Genetics Services, Parkville, VIC, Australia.
  • Dubourg C; Murdoch Children's Research Institute, Parkville, VIC, Australia.
  • Everman DB; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
  • Hildebrand MS; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
  • Santos FJR; HudsonAlpha Institute for Biotechnology, 601 Genome Way, Huntsville, AL, USA.
  • Kellam B; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
  • Keller-Ramey J; Service de Génétique Moléculaire et Génomique, CHU, Rennes, F-35033, France.
  • Lemke JR; Univ Rennes, CNRS, IGDR, UMR 6290, Rennes, F-35000, France.
  • Liu S; Greenwood Genetic Center, Greenwood, SC, USA.
  • Niyazov D; Department of Pediatrics, University of Melbourne, VIC, Australia.
  • Payne K; Epilepsy Research Centre, Austin Health, Heidelberg, VIC, Australia.
  • Person R; Joe DiMaggio Children's Hospital, Hollywood, FL, USA.
  • Quélin C; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
  • Schnur RE; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
  • Smith BT; Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
  • Strober J; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
  • Walker S; Department of Pediatrics, Ochsner Health System and University of Queensland, New Orleans, LA, USA.
  • Wallis M; Riley Hospital for Children, Indianapolis, IN, USA.
  • Walsh L; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
  • Yang S; Service de Génétique Clinique, CHU, Rennes, F-35203, France.
  • Yuen RKC; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
  • Ziegler A; Greenwood Genetic Center, Greenwood, SC, USA.
  • Sticht H; UCSF Benioff Children's Hospital, San Francisco, CA, USA.
  • Pride MC; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
  • Orosco L; Austin Health Clinical Genetics Service, Heidelberg, VIC, Australia.
  • Martínez-Cerdeño V; Department of Medicine, University of Melbourne, Parkville, VIC, Australia.
  • Silverman JL; Riley Hospital for Children, Indianapolis, IN, USA.
  • Crawley JN; GeneDx, Clinical Genomics, 207 Perry Parkway Gaithersburg, MD, USA.
  • Scherer SW; The Centre for Applied Genomics, The Hospital for Sick Children, Toronto, Canada.
  • Zarbalis KS; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.
  • Jamra R; Division of Child Neurology and Inherited Metabolic Diseases, Centre for Paediatrics and Adolescent Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, Heidelberg, Germany.
Brain ; 142(9): 2617-2630, 2019 09 01.
Article em En | MEDLINE | ID: mdl-31327001
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encéfalo / Proteínas Adaptadoras de Transdução de Sinal / Transtornos do Neurodesenvolvimento / Proteínas Relacionadas à Autofagia Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Variação Genética / Encéfalo / Proteínas Adaptadoras de Transdução de Sinal / Transtornos do Neurodesenvolvimento / Proteínas Relacionadas à Autofagia Limite: Adolescent / Animals / Child / Child, preschool / Female / Humans / Male Idioma: En Ano de publicação: 2019 Tipo de documento: Article