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Recommendations for risk allele evidence curation, classification, and reporting from the ClinGen Low Penetrance/Risk Allele Working Group.
Schmidt, Ryan J; Steeves, Marcie; Bayrak-Toydemir, Pinar; Benson, Katherine A; Coe, Bradley P; Conlin, Laura K; Ganapathi, Mythily; Garcia, John; Gollob, Michael H; Jobanputra, Vaidehi; Luo, Minjie; Ma, Deqiong; Maston, Glenn; McGoldrick, Kelly; Palculict, T Blake; Pesaran, Tina; Pollin, Toni I; Qian, Emily; Rehm, Heidi L; Riggs, Erin R; Schilit, Samantha L P; Sergouniotis, Panagiotis I; Tvrdik, Tatiana; Watkins, Nicholas; Zec, Lauren; Zhang, Wenying; Lebo, Matthew S.
Affiliation
  • Schmidt RJ; Children's Hospital Los Angeles, Keck School of Medicine of USC, Los Angeles, CA. Electronic address: rschmidt@chla.usc.edu.
  • Steeves M; Color Health, Burlingame, CA.
  • Bayrak-Toydemir P; Department of Pathology, University of Utah Molecular Genetics and Genomics, ARUP Laboratories, Salt Lake City, UT.
  • Benson KA; School of Pharmacy and Biomolecular Sciences, Royal College of Surgeons in Ireland, Ireland.
  • Coe BP; Department of Pathology & Lab Medicine, BC Children's & BC Women's Hospitals, Vancouver, Canada.
  • Conlin LK; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Ganapathi M; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • Garcia J; Invitae, San Francisco, CA.
  • Gollob MH; Inherited Arrhythmia and Cardiomyopathy Program, Division of Cardiology, Toronto General Hospital and Department of Physiology, University of Toronto, Toronto, Ontario, Canada.
  • Jobanputra V; New York Genome Center, New York, NY; Department of Pathology and Cell Biology, Columbia University Irving Medical Center, New York, NY.
  • Luo M; Department of Pathology and Laboratory Medicine, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA.
  • Ma D; DNA diagnostic lab, Department of Genetics, School of Medicine, Yale University, New Haven, CT.
  • Maston G; Quest Diagnostics, Inc., Hillsboro, OR.
  • McGoldrick K; Ambry Genetics, Aliso Viejo, CA.
  • Palculict TB; GeneDx, Gaithersburg, MD.
  • Pesaran T; Ambry Genetics, Aliso Viejo, CA.
  • Pollin TI; University of Maryland School of Medicine, Baltimore, MD.
  • Qian E; Department of Genetics, Yale University School of Medicine, New Haven, CT.
  • Rehm HL; Center for Genomics Medicine, Massachusetts General Hospital, Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA.
  • Riggs ER; Geisinger Autism & Developmental Medicine Institute, Lewisburg, PA.
  • Schilit SLP; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Boston, MA.
  • Sergouniotis PI; Division of Evolution, Infection and Genomics, University of Manchester, Manchester, United Kingdom.
  • Tvrdik T; Department of Pathology and Laboratory Medicine, Emory University School of Medicine, Atlanta, GA.
  • Watkins N; Department of Pathology and Laboratory Medicine, Sinai Health System, Toronto, Ontario, Canada Department of Molecular Genetics, University of Toronto, Toronto, Canada.
  • Zec L; Natera, Inc., Austin, TX.
  • Zhang W; Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH.
  • Lebo MS; Mass General Brigham, Brigham and Woman's Hospital, Harvard Medical School, Broad Institute of MIT and Harvard, Cambridge, MA. Electronic address: mlebo@bwh.harvard.edu.
Genet Med ; 26(3): 101036, 2024 Mar.
Article de En | MEDLINE | ID: mdl-38054408
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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Variation génétique Limites: Humans Langue: En Journal: Genet Med Sujet du journal: GENETICA MEDICA Année: 2024 Type de document: Article Pays de publication: États-Unis d'Amérique
Texte intégral
Ajouter à My VHL
Imprimer
XML
PubMed Links
Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Variation génétique Limites: Humans Langue: En Journal: Genet Med Sujet du journal: GENETICA MEDICA Année: 2024 Type de document: Article Pays de publication: États-Unis d'Amérique