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Genes|September 29, 2020
Mouse Models of Human Pathogenic Variants of TBC1D24 Associated with Non-Syndromic Deafness DFNB86 and DFNA65 and Syndromes Involving DeafnessRisa Tona, Ivan A Lopez, Cristina Fenollar-Ferrer, et al.
Otolaryngology--Head and Neck Surgery : Official Journal of American Academy of Otolaryngology-Head and Neck Surgery|June 18, 2013
Genetic analysis through OtoSeq of Pakistani families segregating prelingual hearing lossMohsin Shahzad, Theru A Sivakumaran, Tanveer A Qaiser, et al.
Human Genetics|February 11, 2015
Molecular genetics of MARVELD2 and clinical phenotype in Pakistani and Slovak families segregating DFNB49 hearing lossGowri Nayak, Lukas Varga, Claire Trincot, et al.
Human Mutation|July 5, 2016
Mutational Spectrum of MYO15A and the Molecular Mechanisms of DFNB3 Human DeafnessAtteeq U Rehman, Jonathan E Bird, Rabia Faridi, et al.
American Journal of Human Genetics|October 1, 2019
Bi-allelic Variants in METTL5 Cause Autosomal-Recessive Intellectual Disability and MicrocephalyElodie M Richard, Daniel L Polla, Muhammad Zaman Assir, 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 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.
Pigment Cell & Melanoma Research|July 23, 2015
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani populationMohsin Shahzad, Julia Sires Campos, Nabeela Tariq, et al.
Human Genetics|January 3, 2021
A missense allele of PEX5 is responsible for the defective import of PTS2 cargo proteins into peroxisomesMuhammad Ali, Shahid Y Khan, Tony A Rodrigues, et al.
American Journal of Human Genetics|December 12, 2018
Variants in PUS7 Cause Intellectual Disability with Speech Delay, Microcephaly, Short Stature, and Aggressive BehaviorArjan P M de Brouwer, Rami Abou Jamra, Nadine Körtel, et al.
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