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De novo variants in neurodevelopmental disorders with epilepsy.
Heyne, Henrike O; Singh, Tarjinder; Stamberger, Hannah; Abou Jamra, Rami; Caglayan, Hande; Craiu, Dana; De Jonghe, Peter; Guerrini, Renzo; Helbig, Katherine L; Koeleman, Bobby P C; Kosmicki, Jack A; Linnankivi, Tarja; May, Patrick; Muhle, Hiltrud; Møller, Rikke S; Neubauer, Bernd A; Palotie, Aarno; Pendziwiat, Manuela; Striano, Pasquale; Tang, Sha; Wu, Sitao; Poduri, Annapurna; Weber, Yvonne G; Weckhuysen, Sarah; Sisodiya, Sanjay M; Daly, Mark J; Helbig, Ingo; Lal, Dennis; Lemke, Johannes R.
Afiliação
  • Heyne HO; University of Leipzig Hospitals and Clinics, Leipzig, Germany. hheyne@broadinstitute.org.
  • Singh T; Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA. hheyne@broadinstitute.org.
  • Stamberger H; Integrated Research and Treatment Center (IFB) Adiposity Diseases, University of Leipzig Hospitals and Clinics, Leipzig, Germany. hheyne@broadinstitute.org.
  • Abou Jamra R; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. hheyne@broadinstitute.org.
  • Caglayan H; Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
  • Craiu D; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • De Jonghe P; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Guerrini R; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Helbig KL; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Koeleman BPC; University of Leipzig Hospitals and Clinics, Leipzig, Germany.
  • Kosmicki JA; Department of Molecular Biology and Genetics, Bogaziçi University, Istanbul, Turkey.
  • Linnankivi T; 'Carol Davila' University of Medicine Bucharest, Department of Clinical Neurosciences (No. 6), Pediatric Neurology Clinic, Alexandru Obregia Hospital, Bucharest, Romania.
  • May P; Neurogenetics Group, Center for Molecular Neurology, VIB, Antwerp, Belgium.
  • Muhle H; Laboratory of Neurogenetics, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.
  • Møller RS; Division of Neurology, University Hospital Antwerp, Antwerp, Belgium.
  • Neubauer BA; Pediatric Neurology and Neurogenetics Unit and Laboratories, A. Meyer Children's Hospital-University of Florence, Florence, Italy.
  • Palotie A; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • Pendziwiat M; Department of Medical Genetics, University Medical Center Utrecht, Utrecht, The Netherlands.
  • Striano P; Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
  • Tang S; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.
  • Wu S; Department of Pediatric Neurology, Children's Hospital, University of Helsinki and Helsinki University Hospital, Helsinki, Finland.
  • Poduri A; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.
  • Weber YG; Danish Epilepsy Centre, Dianalund, Denmark.
  • Weckhuysen S; Institute for Regional Health Services, University of Southern Denmark, Odense, Denmark.
  • Sisodiya SM; Department of Pediatric Neurology, University Hospital Giessen, Giessen, Germany.
  • Daly MJ; Program in Medical and Population Genetics, and Stanley Center for Psychiatric Research, Broad Institute, Cambridge, MA, USA.
  • Helbig I; Department of Neuropediatrics, University Medical Center Schleswig-Holstein, Christian-Albrechts University, Kiel, Germany.
  • Lal D; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, and Maternal and Child Health, University of Genoa 'G. Gaslini' Institute, Genoa, Italy.
  • Lemke JR; Division of Clinical Genomics, Ambry Genetics, Aliso Viejo, CA, USA.
Nat Genet ; 50(7): 1048-1053, 2018 07.
Article em En | MEDLINE | ID: mdl-29942082
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Epilepsia / Transtornos do Neurodesenvolvimento Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Variação Genética / Predisposição Genética para Doença / Epilepsia / Transtornos do Neurodesenvolvimento Limite: Female / Humans / Male Idioma: En Ano de publicação: 2018 Tipo de documento: Article