Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases-Reference-Cited by-同舟云学术

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases

Published:2019-05-17 Issue:1 Volume:11 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Dharmadhikari Avinash V.,Ghosh Rajarshi,Yuan Bo,Liu Pengfei,Dai Hongzheng,Al Masri Sami,Scull Jennifer,Posey Jennifer E.,Jiang Allen H.,He Weimin,Vetrini Francesco,Braxton Alicia A.,Ward Patricia,Chiang Theodore,Qu Chunjing,Gu Shen,Shaw Chad A.,Smith Janice L.,Lalani Seema,Stankiewicz Pawel,Cheung Sau-Wai,Bacino Carlos A.,Patel Ankita,Breman Amy M.,Wang Xia,Meng Linyan,Xiao Rui,Xia Fan,Muzny Donna,Gibbs Richard A.,Beaudet Arthur L.,Eng Christine M.,Lupski James R.,Yang Yaping,Bi Weimin^ORCID

Funder

Foundation for the National Institutes of Health

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics,Molecular Biology,Molecular Medicine

Link

http://link.springer.com/content/pdf/10.1186/s13073-019-0639-5.pdf

Reference46 articles.

1. Carvalho CM, Lupski JR. Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet. 2016;17:224–38.

2. Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, et al. A copy number variation morbidity map of developmental delay. Nat Genet. 2011;43:838–46.

3. Harel T, Lupski JR. Genomic disorders 20 years on-mechanisms for clinical manifestations. Clin Genet. 2018;93:439–49.