Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants-Reference-Cited by-同舟云学术

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

Published:2018-10-11 Issue:11 Volume:39 Page:1553-1568
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Lee Kristy¹,Krempely Kate²^ORCID,Roberts Maegan E.³,Anderson Michael J.⁴,Carneiro Fatima⁵^ORCID,Chao Elizabeth²⁶,Dixon Katherine⁷,Figueiredo Joana⁵^ORCID,Ghosh Rajarshi⁸,Huntsman David⁷,Kaurah Pardeep⁷,Kesserwan Chimene⁹,Landrith Tyler²,Li Shuwei²,Mensenkamp Arjen R.¹⁰^ORCID,Oliveira Carla⁵^ORCID,Pardo Carolina⁴,Pesaran Tina²,Richardson Matthew⁷,Slavin Thomas P.¹¹,Spurdle Amanda B.¹²^ORCID,Trapp Mackenzie¹,Witkowski Leora¹³,Yi Charles S.²,Zhang Liying¹⁴,Plon Sharon E.⁸,Schrader Kasmintan A.⁷^ORCID,Karam Rachid²^ORCID

Affiliation:

1. Department of GeneticsUniversity of North Carolina at Chapel Hill Chapel Hill North Carolina

2. Ambry Genetics Aliso Viejo California

3. GeneDx Gaithersburg Maryland

4. Invitae Corporation San Francisco California

5. i3S, Istituto de Investigação e Inovação em Saúde & Ipatimup, Institute of Molecular Pathology and Immunology of the University of Porto Porto Portugal

6. University of California Irvine Irvine California

7. University of British Columbia Vancouver BC Canada

8. Baylor College of Medicine Houston Texas

9. St. Jude Children's Research Hospital Memphis Tennessee

10. Radboud University Medical Centre Nijmegen the Netherlands

11. Department of Medical Oncology and Therapeutics ResearchCity of Hope Duarte California

12. QIMR Berghofer Medical Research Institute Brisbane Australia

13. Laboratory for Molecular MedicinePartners Healthcare Personalized Medicine Cambridge Massachusetts

14. Memorial Sloan KetteringMemorial Sloan Kettering Cancer Center New York New York

Funder

Michael Smith Foundation for Health Research

Canadian Institutes of Health Research