Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes-Reference-Cited by-同舟云学术

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Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes

Published:2017-09 Issue:3 Volume:101 Page:478-484
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Lelieveld Stefan H.,Wiel Laurens,Venselaar Hanka,Pfundt Rolph,Vriend Gerrit,Veltman Joris A.,Brunner Han G.,Vissers Lisenka E.L.M.,Gilissen Christian

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference47 articles.

1. Large-scale discovery of novel genetic causes of developmental disorders;Nature,2015

2. Genome sequencing identifies major causes of severe intellectual disability;Gilissen;Nature,2014

3. Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment;Srour;Hum. Mutat.,2016

4. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome;Hoischen;Nat. Genet.,2010

5. Recurrent de novo mutations in PACS1 cause defective cranial-neural-crest migration and define a recognizable intellectual-disability syndrome;Schuurs-Hoeijmakers;Am. J. Hum. Genet.,2012

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