Refining analyses of copy number variation identifies specific genes associated with developmental delay-Reference-Cited by-同舟云学术

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Published:2014-09-14 Issue:10 Volume:46 Page:1063-1071
ISSN:1061-4036
Container-title:Nature Genetics
language:en
Short-container-title:Nat Genet

Author:

Coe Bradley P,Witherspoon Kali,Rosenfeld Jill A^ORCID,van Bon Bregje W M,Vulto-van Silfhout Anneke T,Bosco Paolo,Friend Kathryn L,Baker Carl,Buono Serafino,Vissers Lisenka E L M,Schuurs-Hoeijmakers Janneke H,Hoischen Alex,Pfundt Rolph,Krumm Nik,Carvill Gemma L,Li Deana,Amaral David,Brown Natasha,Lockhart Paul J^ORCID,Scheffer Ingrid E,Alberti Antonino,Shaw Marie,Pettinato Rosa,Tervo Raymond,de Leeuw Nicole,Reijnders Margot R F^ORCID,Torchia Beth S,Peeters Hilde,Thompson Elizabeth,O'Roak Brian J,Fichera Marco,Hehir-Kwa Jayne Y,Shendure Jay,Mefford Heather C,Haan Eric,Gécz Jozef^ORCID,de Vries Bert B A,Romano Corrado,Eichler Evan E

Publisher

Springer Science and Business Media LLC

Subject

Genetics

Link

http://www.nature.com/articles/ng.3092.pdf

Reference60 articles.

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2. Kaminsky, E.B. et al. An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities. Genet. Med. 13, 777–784 (2011).

3. Moreno-De-Luca, D. et al. Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts. Mol. Psychiatry 18, 1090–1095 (2013).

4. Vulto-van Silfhout, A.T. et al. Clinical significance of de novo and inherited copy-number variation. Hum. Mutat. 34, 1679–1687 (2013).

5. Allen, A.S. et al. De novo mutations in epileptic encephalopathies. Nature 501, 217–221 (2013).

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