Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?-Reference-Cited by-同舟云学术

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Recommending inclusion of HFE C282Y homozygotes in the ACMG actionable gene list: cop-out or stealth move toward population screening?

Published:2018-04 Issue:4 Volume:20 Page:400-402
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Laberge Anne-Marie

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim2017161.pdf

Reference15 articles.

1. Grosse SD, Gurrin LC, Bertalli NNA, Allen KJ. Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes. Genet M ed, E-pub ahead of print 3 August 2017.

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1. Twenty-Five Years of Contemplating Genotype-Based Hereditary Hemochromatosis Population Screening;Genes;2022-09-09

2. Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2021 update: a policy statement of the American College of Medical Genetics and Genomics (ACMG);Genetics in Medicine;2021-08

3. Family-specific genetic variants: Principles, detection, and clinical interpretation;Managing Patient Health in the Genomic Era;2020

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