A copy number variation morbidity map of developmental delay-Reference-Cited by-同舟云学术

A copy number variation morbidity map of developmental delay

Published:2011-08-14 Issue:9 Volume:43 Page:838-846
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Cooper Gregory M,Coe Bradley P,Girirajan Santhosh,Rosenfeld Jill A,Vu Tiffany H,Baker Carl,Williams Charles,Stalker Heather,Hamid Rizwan,Hannig Vickie,Abdel-Hamid Hoda,Bader Patricia,McCracken Elizabeth,Niyazov Dmitriy,Leppig Kathleen,Thiese Heidi,Hummel Marybeth,Alexander Nora,Gorski Jerome,Kussmann Jennifer,Shashi Vandana,Johnson Krys,Rehder Catherine,Ballif Blake C,Shaffer Lisa G,Eichler Evan E

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.909.pdf

Reference61 articles.

1. Greenway, S.C. et al. De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot. Nat. Genet. 41, 931–935 (2009).

2. Mefford, H.C. et al. Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy. Am. J. Hum. Genet. 81, 1057–1069 (2007).

3. Sebat, J. et al. Strong association of de novo copy number mutations with autism. Science 316, 445–449 (2007).

4. Stefansson, H. et al. Large recurrent microdeletions associated with schizophrenia. Nature 455, 232–236 (2008).

5. Walsh, T. et al. Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science 320, 539–543 (2008).

Cited by 1124 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. Impact and characterization of serial structural variations across humans and great apes;Nature Communications;2024-09-13

2. Plasma metabolomic signatures for copy number variants and COVID-19 risk loci in Northern Finland Populations;2024-09-10

3. Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve;PLOS ONE;2024-09-06

4. Chromosome 16p11.2 microdeletion syndrome with microcephaly and Dandy-Walker malformation spectrum: expanding the known phenotype;Human Genomics;2024-09-04

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