Recommendations from the ClinGen SCID VCEP: Implementation of ACMG/AMP Variant Curation Guidelines for Severe Combined Immunodeficiency Disease
Vanessa Jacovas1, Michelle Zelnick2, Morton Cowan3, Rajarshi Ghosh4, Michael Hershfield5, Jennifer Puck6, James Verbsky7, Jolan Walter8, Bo Yuan9, Shiloh Martin10, Xueyang Pan11, Shannon McNulty12, Britt Johnson13, Ivan Chinn14
1Postdoctoral Research/Baylor College of Medicine
2Genetics Counselor/Baylor College of Medicine
3Emeritus Professor, Allergy, Immunology, and Blood and Marrow Transplant Division/University of California San Francisco
4Clinical Molecular Geneticist/NIH/NIAID
5Professor of Medicine, Rheumatology and Immunology/Department of Internal Medicine, Duke University
6Professor, Division of Pediatric Allergy, Immunology, and Blood and Marrow Transplantation/University of California San Francisco
7Professor; Medical Director Clinical Immunology Research Laboratory and Translational Research/Medical College of Wisconsin
8Associate Professor/University of South Florida
9Associate Professor/Baylor College of Medicine
10Clinical Genomics Development - Product Support/Invitae
11Postdoctoral Associate/Baylor College of Medicine
12Fellow in Laboratory Genetics & Genomics/Department of Pathology & Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
13Lead, Strategic Commercial Support, Medical Affairs/Invitae
14Assistant Professor/Department of Pediatrics, Division of Immunology, Allergy, and Retrovirology, Baylor College of Medicine
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Clinical Immunology
Tập 250
109607
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