Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene-Reference-Cited by-同舟云学术

Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene

Published:2018-10-11 Issue:11 Volume:39 Page:1569-1580
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Zastrow Diane B.¹²^ORCID,Baudet Heather³,Shen Wei⁴⁵^ORCID,Thomas Amanda⁶,Si Yue⁷,Weaver Meredith A.⁸,Lager Angela M.⁹,Liu Jixia¹⁰,Mangels Rachel²,Dwight Selina S.²^ORCID,Wright Matt W.²^ORCID,Dobrowolski Steven F.¹¹,Eilbeck Karen⁵^ORCID,Enns Gregory M.²,Feigenbaum Annette¹²,Lichter‐Konecki Uta¹³,Lyon Elaine⁴⁵,Pasquali Marzia⁴⁵,Watson Michael⁸,Blau Nenad¹⁴^ORCID,Steiner Robert D.¹⁰¹⁵^ORCID,Craigen William J.¹⁶,Mao Rong⁴⁵,

Affiliation:

1. Palo Alto Medical FoundationPalo Alto California

2. Stanford UniversityStanford California

3. University of North Carolina Chapel Hill North Carolina

4. ARUP Laboratories Salt Lake City Utah

5. University of Utah, Salt Lake City, Utah

6. Department of Pathology and Cell BiologyColumbia University Irving Medical Center New York New York

7. GeneDx Gaithersburg Maryland

8. American College of Medical Genetics and Genomics, Bethesda, Maryland

9. Section of Hematology/OncologyDepartment of MedicineUniversity of Chicago Chicago Illinois

10. Marshfield Clinic Research Institute Marshfield Wisconsin

11. University of Pittsburgh Medical Center Pittsburgh Pennsylvania