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The Journal of Neuroscience : the Official Journal of the Society for Neuroscience|June 30, 2006
The tip-link antigen, a protein associated with the transduction complex of sensory hair cells, is protocadherin-15Zubair M Ahmed, Richard Goodyear, Saima Riazuddin, et al.
Human Mutation|June 5, 2007
Mutational spectrum of MYO15A: the large N-terminal extension of myosin XVA is required for hearingNevra Nal, Zubair M Ahmed, Engin Erkal, et al.
European Journal of Human Genetics : EJHG|December 20, 2012
A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotypeZafar Iqbal, Mohsin Shahzad, Lisenka E L M Vissers, et al.
Human Mutation|November 22, 2018
Mutational and phenotypic spectra of KCNE1 deficiency in Jervell and Lange-Nielsen Syndrome and Romano-Ward SyndromeRabia Faridi, Risa Tona, Alessandra Brofferio, et al.
BMC Medical Genetics|September 28, 2004
Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and PakistanZubair M Ahmed, Xiaoyan Cindy Li, Shontell D Powell, et al.
American Journal of Human Genetics|May 11, 2010
A splice-site mutation in a retina-specific exon of BBS8 causes nonsyndromic retinitis pigmentosaS Amer Riazuddin, Muhammad Iqbal, Yue Wang, et al.
European Journal of Human Genetics : EJHG|July 2, 2015
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genesM Hashim Raza, Carlos E F Domingues, Ronald Webster, et al.
Plos One|December 10, 2016
Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
American Journal of Human Genetics|December 28, 2010
Functional null mutations of MSRB3 encoding methionine sulfoxide reductase are associated with human deafness DFNB74Zubair M Ahmed, Rizwan Yousaf, Byung Cheon Lee, et al.
Plos One|March 10, 2017
Correction: Deletion at the GCNT2 Locus Causes Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
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