Literature DB >> 25091821

Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral problems.

S Waltl1.   

Abstract

Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems Vulto-van Silfhout et al. (2014) The American Journal of Human Genetics 94(5): 649-661.
© 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

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Year:  2014        PMID： 25091821     DOI： 10.1111/cge.12475

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


  3 in total

1.  Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.

Authors:  Seth I Berger; Carla Ciccone; Karen L Simon; May Christine Malicdan; Thierry Vilboux; Charles Billington; Roxanne Fischer; Wendy J Introne; Andrea Gropman; Jan K Blancato; James C Mullikin; William A Gahl; Marjan Huizing; Ann C M Smith
Journal:  Hum Genet       Date:  2017-02-17       Impact factor: 4.132

2.  Functional analysis of novel DEAF1 variants identified through clinical exome sequencing expands DEAF1-associated neurodevelopmental disorder (DAND) phenotype.

Authors:  Li Chen; Philip J Jensik; Joseph T Alaimo; Magdalena Walkiewicz; Seth Berger; Elizabeth Roeder; Eissa A Faqeih; Jonathan A Bernstein; Ann C M Smith; Sureni V Mullegama; David W Saffen; Sarah H Elsea
Journal:  Hum Mutat       Date:  2017-09-23       Impact factor: 4.878

3.  Coupling clinical exome sequencing with functional characterization studies to diagnose a patient with familial Mediterranean fever and MED13L haploinsufficiency syndromes.

Authors:  Sureni V Mullegama; Phillip Jensik; Chen Li; Naghmeh Dorrani; Sibel Kantarci; Bruce Blumberg; Wayne W Grody; Samuel P Strom
Journal:  Clin Case Rep       Date:  2017-04-18
  3 in total

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