Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population-Reference-Cited by-同舟云学术

Rare genetic variants in genes and loci linked to dominant monogenic developmental disorders cause milder related phenotypes in the general population

Published:2022-07 Issue:7 Volume:109 Page:1308-1316
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Kingdom Rebecca,Tuke Marcus,Wood Andrew,Beaumont Robin N.,Frayling Timothy M.,Weedon Michael N.,Wright Caroline F.^ORCID

Funder

University of Exeter

Medical Research Council

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference27 articles.

1. Common genetic variants contribute to risk of rare severe neurodevelopmental disorders;Niemi;Nature,2018

2. Incomplete penetrance in primary immunodeficiency: a skeleton in the closet;Gruber;Hum. Genet.,2020

3. Quantifying the polygenic contribution to variable expressivity in eleven rare genetic disorders;Oetjens;Nat. Commun.,2019

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

5. Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease;Cooper;Hum. Genet.,2013

Cited by 42 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic advances in neurodevelopmental disorders;Medical Review;2024-09-03

2. Penetrance, variable expressivity and monogenic neurodevelopmental disorders;European Journal of Medical Genetics;2024-06

3. Clustering of predicted loss-of-function variants in genes linked with monogenic disease can explain incomplete penetrance;Genome Medicine;2024-04-26

4. Genetic modifiers of rare variants in monogenic developmental disorder loci;Nature Genetics;2024-04-18

5. Investigating the role of common cis-regulatory variants in modifying penetrance of putatively damaging, inherited variants in severe neurodevelopmental disorders;Scientific Reports;2024-04-15