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

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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
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  Data: <searchLink fieldCode="AU" term="%22Lee+K%22">Lee K</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.<br /><searchLink fieldCode="AU" term="%22Krempely+K%22">Krempely K</searchLink>; Ambry Genetics, Aliso Viejo, California.<br /><searchLink fieldCode="AU" term="%22Roberts+ME%22">Roberts ME</searchLink>; GeneDx, Gaithersburg, Maryland.<br /><searchLink fieldCode="AU" term="%22Anderson+MJ%22">Anderson MJ</searchLink>; Invitae Corporation, San Francisco, California.<br /><searchLink fieldCode="AU" term="%22Carneiro+F%22">Carneiro F</searchLink>; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Chao+E%22">Chao E</searchLink>; Ambry Genetics, Aliso Viejo, California.; University of California Irvine, Irvine, California.<br /><searchLink fieldCode="AU" term="%22Dixon+K%22">Dixon K</searchLink>; University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Figueiredo+J%22">Figueiredo J</searchLink>; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Ghosh+R%22">Ghosh R</searchLink>; Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Huntsman+D%22">Huntsman D</searchLink>; University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Kaurah+P%22">Kaurah P</searchLink>; University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Kesserwan+C%22">Kesserwan C</searchLink>; St. Jude Children's Research Hospital, Memphis, Tennessee.<br /><searchLink fieldCode="AU" term="%22Landrith+T%22">Landrith T</searchLink>; Ambry Genetics, Aliso Viejo, California.<br /><searchLink fieldCode="AU" term="%22Li+S%22">Li S</searchLink>; Ambry Genetics, Aliso Viejo, California.<br /><searchLink fieldCode="AU" term="%22Mensenkamp+AR%22">Mensenkamp AR</searchLink>; Radboud University Medical Centre, Nijmegen, the Netherlands.<br /><searchLink fieldCode="AU" term="%22Oliveira+C%22">Oliveira C</searchLink>; i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto, Porto, Portugal.<br /><searchLink fieldCode="AU" term="%22Pardo+C%22">Pardo C</searchLink>; Invitae Corporation, San Francisco, California.<br /><searchLink fieldCode="AU" term="%22Pesaran+T%22">Pesaran T</searchLink>; Ambry Genetics, Aliso Viejo, California.<br /><searchLink fieldCode="AU" term="%22Richardson+M%22">Richardson M</searchLink>; University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Slavin+TP%22">Slavin TP</searchLink>; Department of Medical Oncology and Therapeutics Research, City of Hope, Duarte, California.<br /><searchLink fieldCode="AU" term="%22Spurdle+AB%22">Spurdle AB</searchLink>; QIMR Berghofer Medical Research Institute, Brisbane, Australia.<br /><searchLink fieldCode="AU" term="%22Trapp+M%22">Trapp M</searchLink>; Department of Genetics, University of North Carolina at Chapel Hill, Chapel Hill, North Carolina.<br /><searchLink fieldCode="AU" term="%22Witkowski+L%22">Witkowski L</searchLink>; Laboratory for Molecular Medicine, Partners Healthcare Personalized Medicine, Cambridge, Massachusetts.<br /><searchLink fieldCode="AU" term="%22Yi+CS%22">Yi CS</searchLink>; Ambry Genetics, Aliso Viejo, California.<br /><searchLink fieldCode="AU" term="%22Zhang+L%22">Zhang L</searchLink>; Memorial Sloan Kettering, Memorial Sloan Kettering Cancer Center, New York, New York.<br /><searchLink fieldCode="AU" term="%22Plon+SE%22">Plon SE</searchLink>; Baylor College of Medicine, Houston, Texas.<br /><searchLink fieldCode="AU" term="%22Schrader+KA%22">Schrader KA</searchLink>; University of British Columbia, Vancouver, BC, Canada.<br /><searchLink fieldCode="AU" term="%22Karam+R%22">Karam R</searchLink>; Ambry Genetics, Aliso Viejo, California.
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