Identification of novel candidate disease genes from de novo exonic copy number variants-Reference-Cited by-同舟云学术

Identification of novel candidate disease genes from de novo exonic copy number variants

Published:2017-09-21 Issue:1 Volume:9 Page:
ISSN:1756-994X
Container-title:Genome Medicine
language:en
Short-container-title:Genome Med

Author:

Gambin Tomasz,Yuan Bo,Bi Weimin,Liu Pengfei,Rosenfeld Jill A.,Coban-Akdemir Zeynep,Pursley Amber N.,Nagamani Sandesh C. S.,Marom Ronit,Golla Sailaja,Dengle Lauren,Petrie Heather G.,Matalon Reuben,Emrick Lisa,Proud Monica B.,Treadwell-Deering Diane,Chao Hsiao-Tuan,Koillinen Hannele,Brown Chester,Urraca Nora,Mostafavi Roya,Bernes Saunder,Roeder Elizabeth R.,Nugent Kimberly M.,Bader Patricia I.,Bellus Gary,Cummings Michael,Northrup Hope,Ashfaq Myla,Westman Rachel,Wildin Robert,Beck Anita E.,Immken LaDonna,Elton Lindsay,Varghese Shaun,Buchanan Edward,Faivre Laurence,Lefebvre Mathilde,Schaaf Christian P.,Walkiewicz Magdalena,Yang Yaping,Kang Sung-Hae L.,Lalani Seema R.,Bacino Carlos A.,Beaudet Arthur L.,Breman Amy M.,Smith Janice L.,Cheung Sau Wai,Lupski James R.,Patel Ankita,Shaw Chad A.,Stankiewicz Paweł

Funder

National Institutes of Health

Polish Budget Founds

American Academy of Neurology

National Institute of Neurological Disorders and Stroke

Publisher

Springer Science and Business Media LLC

Subject

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

Link

http://link.springer.com/content/pdf/10.1186/s13073-017-0472-7.pdf

Reference95 articles.

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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. Kaminsky EB, Kaul V, Paschall J, Church DM, Bunke B, Kunig D, et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet Med Off J Am Coll Med Genet. 2011;13:777–84.

4. Coe BP, Witherspoon K, Rosenfeld JA, van Bon BWM, Vulto-van Silfhout AT, Bosco P, et al. Refining analyses of copy number variation identifies specific genes associated with developmental delay. Nat Genet. 2014;46:1063–71.

5. Miller DT, Adam MP, Aradhya S, Biesecker LG, Brothman AR, Carter NP, et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. Am J Hum Genet. 2010;86:749–64.

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