Whole exome sequencing identifies the firstSTRADApoint mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)-Reference-Cited by-同舟云学术

Whole exome sequencing identifies the firstSTRADApoint mutation in a patient with polyhydramnios, megalencephaly, and symptomatic epilepsy syndrome (PMSE)

Published:2016-05-12 Issue:8 Volume:170 Page:2181-2185
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Bi Weimin¹,Glass Ian A.²,Muzny Donna M.³,Gibbs Richard A.¹³,Eng Christine M.¹,Yang Yaping¹,Sun Angela²

Affiliation:

1. Department of Molecular and Human Genetics; Baylor College of Medicine; Houston Texas

2. Department of Pediatrics; University of Washington; Seattle Washington

3. Human Genome Sequencing Center; Baylor College of Medicine; Houston Texas

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference4 articles.

1. Rapamycin prevents seizures after depletion of STRADA in a rare neurodevelopmental disorder;Parker;Sci Transl Med,2013

2. Polyhydramnios, megalencephaly and symptomatic epilepsy caused by a homozygous 7-kilobase deletion in LYK5;Puffenberger;Brain,2007

3. Clinical whole-exome sequencing for the diagnosis of mendelian disorders;Yang;N Engl J Med,2013

4. Molecular findings among patients referred for clinical whole-exome sequencing;Yang;JAMA,2014

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