Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome
Open Access
- 20 August 2014
- journal article
- research article
- Published by Springer Science and Business Media LLC in European Journal of Human Genetics
- Vol. 23 (6), 753-760
- https://doi.org/10.1038/ejhg.2014.165
Abstract
No abstract availableThis publication has 32 references indexed in Scilit:
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk GenesPLoS Genetics, 2013
- Updates in the Genetic Evaluation of the Child with Global Developmental Delay or Intellectual DisabilitySeminars in Pediatric Neurology, 2012
- Diagnostic Exome Sequencing in Persons with Severe Intellectual DisabilityThe New England Journal of Medicine, 2012
- Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing studyThe Lancet, 2012
- Microdeletion on 3p25 in a patient with features of 3p deletion syndromeAmerican Journal of Medical Genetics Part A, 2012
- De novo mutations revealed by whole-exome sequencing are strongly associated with autismNature, 2012
- Genetics of Early Onset Cognitive ImpairmentAnnual Review of Genomics and Human Genetics, 2010
- Microarray based analysis of 3p25‐p26 deletions (3p‐ syndrome)American Journal of Medical Genetics Part A, 2009
- Distal 3p deletion syndrome: Detailed molecular cytogenetic and clinical characterization of three small distal deletions and reviewAmerican Journal of Medical Genetics Part A, 2007
- Loss-of-Function Mutations in Euchromatin Histone Methyl Transferase 1 (EHMT1) Cause the 9q34 Subtelomeric Deletion SyndromeAmerican Journal of Human Genetics, 2006