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Investigative Ophthalmology & Visual Science|April 19, 2017
Molecular Genetic Analysis of Pakistani Families With Autosomal Recessive Congenital Cataracts by Homozygosity ScreeningJianjun Chen, Qiwei Wang, Patricia E Cabrera, et al.
Plos One|November 5, 2016
Mutation in LIM2 Is Responsible for Autosomal Recessive Congenital CataractsBushra Irum, Shahid Y Khan, Muhammad Ali, et al.
Human Genetics|June 11, 2011
Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19pAtteeq U Rehman, Khitab Gul, Robert J Morell, et al.
American Journal of Human Genetics|December 31, 2005
Mutations in TRIOBP, which encodes a putative cytoskeletal-organizing protein, are associated with nonsyndromic recessive deafnessSaima Riazuddin, Shaheen N Khan, Zubair M Ahmed, et al.
Human Mutation|January 9, 2008
Mutation spectrum of MYO7A and evaluation of a novel nonsyndromic deafness DFNB2 allele with residual functionSaima Riazuddin, Sabiha Nazli, Zubair M Ahmed, et al.
European Journal of Human Genetics : EJHG|July 16, 2015
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegenerationZafar Iqbal, Lucia Püttmann, Luciana Musante, et al.
Cell|June 1, 2010
Actin-bundling protein TRIOBP forms resilient rootlets of hair cell stereocilia essential for hearingShin-ichiro Kitajiri, Takeshi Sakamoto, Inna A Belyantseva, et al.
Communications Biology|July 8, 2024
Variants of NAV3, a neuronal morphogenesis protein, cause intellectual disability, developmental delay, and microcephalyAmama Ghaffar, Tehmeena Akhter, Petter Strømme, et al.
American Journal of Human Genetics|September 21, 2010
A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindnessS Amer Riazuddin, Amber Shahzadi, Christina Zeitz, et al.
Nature Communications|May 25, 2016
FOXE3 contributes to Peters anomaly through transcriptional regulation of an autophagy-associated protein termed DNAJB1Shahid Y Khan, Shivakumar Vasanth, Firoz Kabir, et al.
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