Phenotypes of undiagnosed adults with actionable OTC and GLA variants-Reference-Cited by-同舟云学术

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Phenotypes of undiagnosed adults with actionable OTC and GLA variants

Published:2023-10 Issue:4 Volume:4 Page:100226
ISSN:2666-2477
Container-title:Human Genetics and Genomics Advances
language:en
Short-container-title:Human Genetics and Genomics Advances

Author:

Gold Jessica I.,Madhavan Sarina,Park Joseph,Zouk Hana,Perez Emma,Strong Alanna,Drivas Theodore G.,Karaa Amel,Yudkoff Marc,Rader Daniel,Green Robert C.,Gold Nina B.^ORCID

Publisher

Elsevier BV

Subject

Genetics (clinical),Molecular Medicine

Reference20 articles.

1. Frequency of genomic secondary findings among 21,915 eMERGE network participants;Genet. Med.,2020

2. A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations;Wenger;Genet. Med.,2021

3. Genetic identification of familial hypercholesterolemia within a single U.S. health care system;Abul-Husn;Science,2016

4. ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing;Green;Genet. Med.,2013

5. Aggregate penetrance of genomic variants for actionable disorders in European and African Americans;Natarajan;Sci. Transl. Med.,2016

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