De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment-Reference-Cited by-同舟云学术

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment

Published:2015-09 Issue:3 Volume:97 Page:493-500
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Hempel Maja,Cremer Kirsten,Ockeloen Charlotte W.,Lichtenbelt Klaske D.,Herkert Johanna C.,Denecke Jonas,Haack Tobias B.,Zink Alexander M.,Becker Jessica,Wohlleber Eva,Johannsen Jessika,Alhaddad Bader,Pfundt Rolph,Fuchs Sigrid,Wieczorek Dagmar,Strom Tim M.,van Gassen Koen L.I.,Kleefstra Tjitske,Kubisch Christian,Engels Hartmut,Lessel Davor

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference14 articles.

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2. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study;Rauch;Lancet,2012

3. Diagnostic exome sequencing in persons with severe intellectual disability;de Ligt;N. Engl. J. Med.,2012

4. Large-scale discovery of novel genetic causes of developmental disorders;Deciphering Developmental Disorders;Nature,2015

5. CAMP (C13orf8, ZNF828) is a novel regulator of kinetochore-microtubule attachment;Itoh;EMBO J.,2011

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