A spectrum of recessiveness among Mendelian disease variants in UK Biobank-Reference-Cited by-同舟云学术

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A spectrum of recessiveness among Mendelian disease variants in UK Biobank

Published:2022-07 Issue:7 Volume:109 Page:1298-1307
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Barton Alison R.^ORCID,Hujoel Margaux L.A.,Mukamel Ronen E.,Sherman Maxwell A.,Loh Po-Ru

Funder

NHGRI

NIEHS

Burroughs Wellcome Fund

National Science Foundation

Harvard Medical School

National Institutes of Health

Massachusetts Institute of Technology

Harvard University

NHLBI

Broad Institute

NIMH

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference55 articles.

1. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat. Rev. Genet.,2011

2. Online mendelian inheritance in man (OMIM®): victor McKusick’s magnum opus;Hamosh;Am. J. Med. Genet.,2021

3. Assessing the pathogenicity, penetrance, and expressivity of putative disease-causing variants in a population setting;Wright;Am. J. Hum. Genet.,2019

4. Cystic fibrosis carriers are at increased risk for a wide range of cystic fibrosis-related conditions;Miller;Proc. Natl. Acad. Sci. U S A,2020

5. Morbidity and mortality in carriers of the cystic fibrosis mutation CFTR Phe508del in the general population;Çolak;Eur. Respir. J.,2020

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