Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria-Reference-Cited by-同舟云学术

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Whole-exome sequencing identifies compound heterozygous mutations in WDR62 in siblings with recurrent polymicrogyria

Published:2011-08-10 Issue:9 Volume:155 Page:2071-2077
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Murdock David R.,Clark Gary D.,Bainbridge Matthew N.,Newsham Irene,Wu Yuan-Qing,Muzny Donna M.,Cheung Sau Wai,Gibbs Richard A.,Ramocki Melissa B.

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.34165/fullpdf

Reference36 articles.

1. A method and server for predicting damaging missense mutations;Adzhubei;Nat Methods,2010

2. The Vertebrate Genome Annotation (Vega) database;Ashurst;Nucleic Acids Res,2005

3. GPR56-related bilateral frontoparietal polymicrogyria: Further evidence for an overlap with the cobblestone complex;Bahi-Buisson;Brain,2010

4. Whole exome capture in solution with 3 Gbp of data;Bainbridge;Genome Biol,2010

5. Diabetes mellitus during pregnancy and the risks for specific birth defects: A population-based case-control study;Becerra;Pediatrics,1990

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2. Autosomal Recessive Primary Microcephaly: Not Just a Small Brain;Frontiers in Cell and Developmental Biology;2022-01-17

3. Autosomal Recessive Primary Microcephaly (MCPH) and Novel Pathogenic Variants in <b><i>ASPM</i></b> and <b><i>WDR62</i></b> Genes;Molecular Syndromology;2022

4. Time is of the essence: the molecular mechanisms of primary microcephaly;Genes & Development;2021-12-01

5. Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the WDR62 Gene;Genes;2021-04-19

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