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Plos Genetics|March 17, 2022
Biallelic variants in TRAPPC10 cause a microcephalic TRAPPopathy disorder in humans and miceLettie E Rawlins, Hashem Almousa, Shazia Khan, et al.Cell|April 23, 2003
Desmoglein 4 in hair follicle differentiation and epidermal adhesion: evidence from inherited hypotrichosis and acquired pemphigus vulgarisAna Kljuic, Hisham Bazzi, John P Sundberg, et al.Human Genetics|June 12, 2015
Mutation of ATF6 causes autosomal recessive achromatopsiaMuhammad Ansar, Regie Lyn P Santos-Cortez, Muhammad Arif Nadeem Saqib, et al.Plos Genetics|July 22, 2015
A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing ImpairmentMette Nyegaard, Nanna D Rendtorff, Morten S Nielsen, 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.Human Genetics|September 1, 2018
Novel candidate genes and variants underlying autosomal recessive neurodevelopmental disorders with intellectual disabilityRegie Lyn P Santos-Cortez, Valeed Khan, Falak Sher Khan, et al.Human Genetics|April 15, 2019
Variants in KIAA0825 underlie autosomal recessive postaxial polydactylyIrfan Ullah, Naseebullah Kakar, Isabelle Schrauwen, et al.European Journal of Human Genetics : EJHG|June 17, 2021
ADAMTS1, MPDZ, MVD, and SEZ6: candidate genes for autosomal recessive nonsyndromic hearing impairmentThashi Bharadwaj, Isabelle Schrauwen, Sakina Rehman, 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.American Journal of Human Genetics|January 26, 2016
Autosomal-Recessive Hearing Impairment Due to Rare Missense Variants within S1PR2Regie Lyn P Santos-Cortez, Rabia Faridi, Atteeq U Rehman, et al.Pageof 34