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The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria.
Helbig, Ingo; Riggs, Erin Rooney; Barry, Carrie-Anne; Klein, Karl Martin; Dyment, David; Thaxton, Courtney; Sadikovic, Bekim; Sands, Tristan T; Wagnon, Jacy L; Liaquat, Khalida; Cilio, Maria Roberta; Mirzaa, Ghayda; Park, Kristen; Axeen, Erika; Butler, Elizabeth; Bardakjian, Tanya M; Striano, Pasquale; Poduri, Annapurna; Siegert, Rebecca K; Grant, Andrew R; Helbig, Katherine L; Mefford, Heather C.
Afiliação
  • Helbig I; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Riggs ER; Department of Neuropediatrics, Christian-Albrechts-University of Kiel, Kiel, Germany.
  • Barry CA; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.
  • Klein KM; Autism & Developmental Medicine Institute, Geisinger Health System, Lewisburg, Pennsylvania, USA.
  • Dyment D; Department of Neurology, Epilepsy Center Frankfurt Rhine-Main, Goethe University, Frankfurt am Main, Frankfurt, Germany.
  • Thaxton C; Department of Neurology, Epilepsy Center Hessen, Philipps University, Marburg, Marburg, Germany.
  • Sadikovic B; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.
  • Sands TT; Department of Genetics, University of North Carolina, Chapel Hill, North Carolina, USA.
  • Wagnon JL; Department of Pathology and Laboratory Medicine, Western University Molecular Genetic Laboratory, London Health Sciences, London, Ontario, Canada.
  • Liaquat K; Division of Child Neurology, Columbia University Medical Center, New York, New York, USA.
  • Cilio MR; Department of Human Genetics, University of Michigan, Ann Arbor, Michigan, USA.
  • Mirzaa G; Quest Diagnostics, Athena Diagnostics, Marlborough, Massachusetts, USA.
  • Park K; Departments of Pediatrics and Neurology, University of California, San Francisco, California, USA.
  • Axeen E; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, Washington, USA.
  • Butler E; Department of Pediatrics, University of Washington, Seattle, Washington, USA.
  • Bardakjian TM; Department of Pediatrics and Neurology, University of Colorado School of Medicine, Aurora, Colorado, USA.
  • Striano P; Department of Neurology, University of Virginia, Charlottesville, Virginia, USA.
  • Poduri A; GeneDx, Gaithersburg, Maryland, USA.
  • Siegert RK; Department of Neurology, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Grant AR; Pediatric Neurology and Muscular Diseases Unit, DINOGMI-Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, "G. Gaslini" Institute, University of Genoa, Genova, Italy.
  • Helbig KL; Epilepsy Genetics Program, Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.
  • Mefford HC; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts, USA.
Hum Mutat ; 39(11): 1476-1484, 2018 11.
Article em En | MEDLINE | ID: mdl-30311377
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Epilepsia Tipo de estudo: Prognostic_studies Limite: Humans Idioma: En Ano de publicação: 2018 Tipo de documento: Article