Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study-Reference-Cited by-同舟云学术

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study

Published:2012-11 Issue:9854 Volume:380 Page:1674-1682
ISSN:0140-6736
Container-title:The Lancet
language:en
Short-container-title:The Lancet

Author:

Rauch Anita,Wieczorek Dagmar,Graf Elisabeth,Wieland Thomas,Endele Sabine,Schwarzmayr Thomas,Albrecht Beate,Bartholdi Deborah,Beygo Jasmin,Di Donato Nataliya,Dufke Andreas,Cremer Kirsten,Hempel Maja,Horn Denise,Hoyer Juliane,Joset Pascal,Röpke Albrecht,Moog Ute,Riess Angelika,Thiel Christian T,Tzschach Andreas,Wiesener Antje,Wohlleber Eva,Zweier Christiane,Ekici Arif B,Zink Alexander M,Rump Andreas,Meisinger Christa,Grallert Harald,Sticht Heinrich,Schenck Annette,Engels Hartmut,Rappold Gudrun,Schröck Evelin,Wieacker Peter,Riess Olaf,Meitinger Thomas,Reis André,Strom Tim M

Publisher

Elsevier BV

Subject

General Medicine

Reference40 articles.

1. Desk Reference to the Diagnostic Criteria From DSM-IV-TR,2000

2. The epidemiology of mental retardation: challenges and opportunities in the new millennium;Leonard;Ment Retard Dev Disabil Res Rev,2002

3. Genetics of early onset cognitive impairment;Ropers;Annu Rev Genomics Hum Genet,2010

4. Mutations in SYNGAP1 in autosomal nonsyndromic mental retardation;Hamdan;N Engl J Med,2009

5. Deep sequencing reveals 50 novel genes for recessive cognitive disorders;Najmabadi;Nature,2011

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