De novo variants in CNOT3 cause a variable neurodevelopmental disorder-Reference-Cited by-同舟云学术

De novo variants in CNOT3 cause a variable neurodevelopmental disorder

Published:2019-06-14 Issue:11 Volume:27 Page:1677-1682
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Martin R.,Splitt M.^ORCID,Genevieve D.,Aten E.,Collins A.,de Bie C. I.,Faivre L.,Foulds N.,Giltay J.,Ibitoye R.,Joss S.,Kennedy J.,Kerr B.,Kivuva E.,Koopmans M.,Newbury-Ecob R.,Jean-Marçais N.,Peeters E. A. J.,Smithson S.,Tomkins S.,Tranmauthem F.,Piton A.^ORCID,van Haeringen A.

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/s41431-019-0413-6.pdf

Reference13 articles.

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2. Firth HV, Wright CF. The Deciphering Developmental Disorders (DDD) study. Dev Med Child Neurol. 2011;53:702–3.

3. Wright CF, Fitzgerald TW, Jones WD, Clayton S, McRae JF, van Kogelenberg M, et al. Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data. Lancet. 2015;385:1305–14.

4. Deciphering Developmental Disorders Study Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542:433–8.

5. Boland A, Chen Y, Raisch T, Jonas S, Kuzuoğlu-Öztürk D, Wohlbold L, et al. Structure and assembly of the NOT module of the human CCR4-NOT complex. Nat Struct Mol Biol. 2013;20:1289–97.

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