Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82-Reference-Cited by-同舟云学术

Whole Exome Sequencing and Homozygosity Mapping Identify Mutation in the Cell Polarity Protein GPSM2 as the Cause of Nonsyndromic Hearing Loss DFNB82

Published:2010-07 Issue:1 Volume:87 Page:90-94
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Walsh Tom,Shahin Hashem,Elkan-Miller Tal,Lee Ming K.,Thornton Anne M.,Roeb Wendy,Abu Rayyan Amal,Loulus Suheir,Avraham Karen B.,King Mary-Claire,Kanaan Moien

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference23 articles.

1. Hearing loss: Mechanisms revealed by genetics and cell biology;Dror;Annu. Rev. Genet.,2009

2. Exome sequencing identifies the cause of a Mendelian disorder;Ng;Nat. Genet.,2010

3. Genetic diagnosis by whole exome capture and massively parallel DNA sequencing;Choi;Proc. Natl. Acad. Sci. USA,2009

4. Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families;Shahin;Eur. J. Hum. Genet.,2010

5. Mapping of a new autosomal recessive nonsyndromic hearing loss locus (DFNB32) to chromosome 1p13.3-22.1;Masmoudi;Eur. J. Hum. Genet.,2003

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