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The ClinGen Brain Malformation Variant Curation Expert Panel: Rules for somatic variants in AKT3, MTOR, PIK3CA, and PIK3R2.
Lai, Abbe; Soucy, Aubrie; El Achkar, Christelle Moufawad; Barkovich, Anthony J; Cao, Yang; DiStefano, Marina; Evenson, Michael; Guerrini, Renzo; Knight, Devon; Lee, Yi-Shan; Mefford, Heather C; Miller, David T; Mirzaa, Ghayda; Mochida, Ganesh; Rodan, Lance H; Patel, Mayher; Smith, Lacey; Spencer, Sara; Walsh, Christopher A; Yang, Edward; Yuskaitis, Christopher J; Yu, Timothy; Poduri, Annapurna.
Afiliação
  • Lai A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.
  • Soucy A; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.
  • El Achkar CM; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA.
  • Barkovich AJ; Department of Radiology, University of California, San Francisco, CA.
  • Cao Y; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.
  • DiStefano M; Broad Institute of MIT and Harvard, Cambridge, MA; Precision Health Program, Geisinger, Danville, PA.
  • Evenson M; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.
  • Guerrini R; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories, Department of Neuroscience, Meyer Children's University Hospital, University of Florence, Florence, Italy.
  • Knight D; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.
  • Lee YS; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, MO.
  • Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Hospital, Memphis, TN.
  • Miller DT; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.
  • Mirzaa G; Center for Integrative Brain Research, Seattle Children's Research Institute, Seattle, WA; Department of Pediatrics, University of Washington, Seattle, WA.
  • Mochida G; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA.
  • Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA.
  • Patel M; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Smith L; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA.
  • Spencer S; Division of Reproductive Genetics, Northwestern Medicine, Chicago, IL.
  • Walsh CA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Pediatrics, Harvard Medical School, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA.
  • Yang E; Department of Radiology, Boston Children's Hospital and Harvard Medical School, Boston, MA.
  • Yuskaitis CJ; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA.
  • Yu T; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: timothy.yu@childrens.harvard.edu.
  • Poduri A; Epilepsy Genetics Program, Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital, Boston, MA; Department of Neurology, Harvard Medical School, Boston, MA; Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: annapurna.poduri@children
Genet Med ; 24(11): 2240-2248, 2022 11.
Article em En | MEDLINE | ID: mdl-35997716
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Variação Genética / Encéfalo / Genoma Humano Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Marrocos
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Anormalidades Congênitas / Variação Genética / Encéfalo / Genoma Humano Idioma: En Ano de publicação: 2022 Tipo de documento: Article País de afiliação: Marrocos