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American Journal of Human Genetics|April 14, 2009
Null mutations in LTBP2 cause primary congenital glaucomaManir Ali, Martin McKibbin, Adam Booth, et al.
Investigative Ophthalmology & Visual Science|April 19, 2017
Homozygosity Mapping and Genetic Analysis of Autosomal Recessive Retinal Dystrophies in 144 Consanguineous Pakistani FamiliesLin Li, Yabin Chen, Xiaodong Jiao, et al.
American Journal of Human Genetics|July 7, 2009
Noncoding mutations of HGF are associated with nonsyndromic hearing loss, DFNB39Julie M Schultz, Shaheen N Khan, Zubair M Ahmed, et al.
Journal of Medical Genetics|September 24, 2011
Allelic hierarchy of CDH23 mutations causing non-syndromic deafness DFNB12 or Usher syndrome USH1D in compound heterozygotesJulie M Schultz, Rashid Bhatti, Anne C Madeo, et al.
American Journal of Human Genetics|August 22, 2017
Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical DevelopmentEkaterina L Ivanova, Frédéric Tran Mau-Them, Saima Riazuddin, et al.
Nature Genetics|February 19, 2002
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell functionKiyoto Kurima, Linda M Peters, Yandan Yang, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2017
Biallelic variants in LINGO1 are associated with autosomal recessive intellectual disability, microcephaly, speech and motor delayMuhammad Ansar, Saima Riazuddin, Muhammad Tahir Sarwar, 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.
Human Molecular Genetics|February 8, 2013
Homozygous and heterozygous disruptions of ANK3: at the crossroads of neurodevelopmental and psychiatric disordersZafar Iqbal, Geert Vandeweyer, Monique van der Voet, et al.
American Journal of Human Genetics|January 7, 2014
Mutations in TBC1D24, a gene associated with epilepsy, also cause nonsyndromic deafness DFNB86Atteeq U Rehman, Regie Lyn P Santos-Cortez, Robert J Morell, et al.
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