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Items: 4

Select item 36577501.

A truncating mutation in GPSM2 is associated with recessive nonsyndromic hearing loss

Kemal O. Yariz, Tom Walsh, Hatice Akay, Duygu Duman, Adil Cinar Akkaynak, Mary-Claire King, Mustafa Tekin

Clin Genet. Author manuscript; available in PMC 2013 May 20.

Published in final edited form as: Clin Genet. 2012 Mar; 81(3): 289–293. Published online 2011 Mar 15. doi: 10.1111/j.1399-0004.2011.01654.x

PMCID:: PMC3657750

Article PDF–1.0M

Select item 33702712.

GPSM2 Mutations Cause the Brain Malformations and Hearing Loss in Chudley-McCullough Syndrome

Dan Doherty, Albert E. Chudley, Gail Coghlan, Gisele E. Ishak, A. Micheil Innes, Edmond G. Lemire, R. Curtis Rogers, Aizeddin A. Mhanni, Ian G. Phelps, Steven J.M. Jones, Shing H. Zhan, Anthony P. Fejes, Hashem Shahin, Moien Kanaan, Hatice Akay, Mustafa Tekin, FORGE Canada Consortium, Barbara Triggs-Raine, Teresa Zelinski

Am J Hum Genet. 2012 Jun 8; 90(6): 1088–1093. doi: 10.1016/j.ajhg.2012.04.008

Correction in:: Am J Hum Genet. 2012 Jul 13; 91(1): 209.

PMCID:: PMC3370271

Article PDF–494K

Select item 29872503.

Five novel loci for inherited hearing loss mapped by SNP-based homozygosity profiles in Palestinian families

Hashem Shahin, Tom Walsh, Amal Abu Rayyan, Ming K Lee, Jake Higgins, Diane Dickel, Kristen Lewis, James Thompson, Carl Baker, Alex S Nord, Sunday Stray, David Gurwitz, Karen B Avraham, Mary-Claire King, Moien Kanaan

Eur J Hum Genet. 2010 Apr; 18(4): 407–413. Published online 2009 Nov 4. doi: 10.1038/ejhg.2009.190

PMCID:: PMC2987250

Article PDF–544K

Select item 28967764.

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

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

Am J Hum Genet. 2010 Jul 9; 87(1): 90–94. doi: 10.1016/j.ajhg.2010.05.010