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Recommendations by the ClinGen Rett/Angelman-like expert panel for gene-specific variant interpretation methods.
McKnight, Dianalee; Bean, Lora; Karbassi, Izabela; Beattie, Katelynn; Bienvenu, Thierry; Bonin, Hope; Fang, Ping; Chrisodoulou, John; Friez, Michael; Helgeson, Maria; Krishnaraj, Rahul; Meng, Linyan; Mighion, Lindsey; Neul, Jeffrey; Percy, Alan; Ramsden, Simon; Zoghbi, Huda; Das, Soma.
Affiliation
  • McKnight D; Invitae, San Francisco, California, USA.
  • Bean L; Perkin Elmer, Duluth, Georgia, USA.
  • Karbassi I; Athena Diagnostics, Worcester, Massachusetts, USA.
  • Beattie K; GeneDx, Gaithersburg, Massachusetts, USA.
  • Bienvenu T; Institut de Psychiatrie et de Neurosciences de Paris (IPNP), Paris, France.
  • Bonin H; Central Manchester University Hospital, Manchester, Greater Manchester, UK.
  • Fang P; Baylor College of Medicine, Houston, Texas, USA.
  • Chrisodoulou J; Murdoch Childrens Research Institute and the University of Melbourne, Parkville, Victoria, Australia.
  • Friez M; University of Sydney, Sydney, New South Wales, Australia.
  • Helgeson M; Greenwood Genetic Center, Greenwood, South Carolina, USA.
  • Krishnaraj R; Invitae, San Francisco, California, USA.
  • Meng L; University of Sydney, Sydney, New South Wales, Australia.
  • Mighion L; Children's Hospital at Westmead, Westmead, New South Wales, Australia.
  • Neul J; Baylor College of Medicine, Houston, Texas, USA.
  • Percy A; GeneDx, Gaithersburg, Massachusetts, USA.
  • Ramsden S; Vanderbilt Kennedy Center, Nashville, Tennessee, USA.
  • Zoghbi H; University of Alabama at Birmingham, Birmingham, Alabama, USA.
  • Das S; Central Manchester University Hospital, Manchester, Greater Manchester, UK.
Hum Mutat ; 43(8): 1097-1113, 2022 08.
Article in En | MEDLINE | ID: mdl-34837432
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Genetic Testing Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States
Fulltext
Print
XML
PubMed Links
Search on Google

Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Genome, Human / Genetic Testing Type of study: Guideline / Prognostic_studies Limits: Humans Language: En Journal: Hum Mutat Journal subject: GENETICA MEDICA Year: 2022 Type: Article Affiliation country: United States