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Specifications of the ACMG/AMP standards and guidelines for mitochondrial DNA variant interpretation.
McCormick, Elizabeth M; Lott, Marie T; Dulik, Matthew C; Shen, Lishuang; Attimonelli, Marcella; Vitale, Ornella; Karaa, Amel; Bai, Renkui; Pineda-Alvarez, Daniel E; Singh, Larry N; Stanley, Christine M; Wong, Stacey; Bhardwaj, Anshu; Merkurjev, Daria; Mao, Rong; Sondheimer, Neal; Zhang, Shiping; Procaccio, Vincent; Wallace, Douglas C; Gai, Xiaowu; Falk, Marni J.
Affiliation
  • McCormick EM; Mitochondrial Medicine Frontier Program, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Lott MT; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Dulik MC; Department of Pediatrics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania, USA.
  • Shen L; Division of Genomic Diagnostics, Department of Pathology and Laboratory Medicine, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Attimonelli M; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.
  • Vitale O; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari "A. Moro", Bari, Italy.
  • Karaa A; Department of Biosciences, Biotechnology, and Biopharmaceutics, University of Bari "A. Moro", Bari, Italy.
  • Bai R; Genetics Unit, Massachusetts General Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Pineda-Alvarez DE; GeneDx, Gaithersburg, Maryland, USA.
  • Singh LN; Invitae, San Francisco, California, USA.
  • Stanley CM; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Wong S; Variantyx, Inc, Framingham, Massachusetts, USA.
  • Bhardwaj A; QNA Diagnostics, Cambridge, Massachusetts, USA.
  • Merkurjev D; Invitae, San Francisco, California, USA.
  • Mao R; CSIR-Institute of Microbial Technology, Chandigarh, India.
  • Sondheimer N; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California, USA.
  • Zhang S; ARUP Institute for Clinical and Experimental Pathology, ARUP Laboratories, Salt Lake City, Utah, USA.
  • Procaccio V; Department of Pathology, University of Utah, Salt Lake City, Utah, USA.
  • Wallace DC; Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, Ontario, Canada.
  • Gai X; Center for Mitochondrial and Epigenomic Medicine, Division of Human Genetics, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
  • Falk MJ; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Hum Mutat ; 41(12): 2028-2057, 2020 12.
Article in En | MEDLINE | ID: mdl-32906214
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Societies, Scientific / Genetic Variation / DNA, Mitochondrial / Guidelines as Topic Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States
Fulltext
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Societies, Scientific / Genetic Variation / DNA, Mitochondrial / Guidelines as Topic Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2020 Type: Article Affiliation country: United States