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Molecular Vision|June 28, 2012
Novel mutations in RDH5 cause fundus albipunctatus in two consanguineous Pakistani familiesMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Plos One|June 21, 2014
Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani familiesSobia Shafique, Saima Siddiqi, Margit Schraders, et al.Journal of Medical Genetics|April 17, 2014
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular colobomaMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Molecular Vision|December 5, 2009
A homozygous p.Glu150Lys mutation in the opsin gene of two Pakistani families with autosomal recessive retinitis pigmentosaMaleeha Azam, Muhammad Imran Khan, Andreas Gal, et al.Molecular Vision|May 11, 2010
Novel CNGA3 and CNGB3 mutations in two Pakistani families with achromatopsiaMaleeha Azam, Rob W J Collin, Syed Tahir Abbas Shah, et al.Molecular Vision|April 6, 2013
Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndromeMuhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, et al.Gene|September 20, 2022
Role of 19 SNPs in 10 genes with type 2 diabetes in the Pakistani populationNetasha Khan, Andrew D Paterson, Delnaz Roshandel, et al.Scientific Reports|October 7, 2016
Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrumMaleeha Maria, Ideke J C Lamers, Miriam Schmidts, et al.Human Molecular Genetics|January 7, 2020
Taurine treatment of retinal degeneration and cardiomyopathy in a consanguineous family with SLC6A6 taurine transporter deficiencyMuhammad Ansar, Emmanuelle Ranza, Madhur Shetty, et al.European Journal of Human Genetics : EJHG|July 16, 2015
Novel and recurrent CIB2 variants, associated with nonsyndromic deafness, do not affect calcium buffering and localization in hair cellsCelia Zazo Seco, Arnaud P Giese, Sobia Shafique, et al.Pageof 7