Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.

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Bibliographic Details
Title: Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Authors: Lee K; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Krempely K; Ambry Genetics, Aliso Viejo, California., Roberts ME; GeneDx, Gaithersburg, Maryland., Anderson MJ; Invitae Corporation, San Francisco, California., Carneiro F; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal., Chao E; Ambry Genetics, Aliso Viejo, California.; University of California Irvine, Irvine, California., Dixon K; University of British Columbia, Vancouver, BC, Canada., Figueiredo J; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal., Ghosh R; Baylor College of Medicine, Houston, Texas., Huntsman D; University of British Columbia, Vancouver, BC, Canada., Kaurah P; University of British Columbia, Vancouver, BC, Canada., Kesserwan C; St. Jude Children's Research Hospital, Memphis, Tennessee., Landrith T; Ambry Genetics, Aliso Viejo, California., Li S; Ambry Genetics, Aliso Viejo, California., Mensenkamp AR; Radboud University Medical Centre, Nijmegen, the Netherlands., Oliveira C; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal., Pardo C; Invitae Corporation, San Francisco, California., Pesaran T; Ambry Genetics, Aliso Viejo, California., Richardson M; University of British Columbia, Vancouver, BC, Canada., Slavin TP; Department of Medical Oncology and Therapeutics Research, City of Hope, Duarte, California., Spurdle AB; QIMR Berghofer Medical Research Institute, Brisbane, Australia., Trapp M; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina., Witkowski L; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts., Yi CS; Ambry Genetics, Aliso Viejo, California., Zhang L; Memorial Sloan Kettering, Memorial Sloan Kettering Cancer Center, New York, New York., Plon SE; Baylor College of Medicine, Houston, Texas., Schrader KA; University of British Columbia, Vancouver, BC, Canada., Karam R; Ambry Genetics, Aliso Viejo, California.
Source: Human mutation [Hum Mutat] 2018 Nov; Vol. 39 (11), pp. 1553-1568.
Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat
Database: MEDLINE Ultimate
Description
ISSN:1098-1004
DOI:10.1002/humu.23650