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Genes|April 23, 2022
Phenotype Expansion for Atypical Gaucher Disease Due to Homozygous Missense PSAP Variant in a Large Consanguineous Pakistani FamilyKhurram Liaqat, Shabir Hussain, Anushree Acharya, et al.Clinical Genetics|June 13, 2023
Nonsense variant in a consanguineous family expands the phenotype of KPTN gene-related syndrome to include hearing impairmentKhurram Liaqat, Thashi Bharadwaj, Khadim Shah, et al.Biomed Research International|April 24, 2023
A Novel Variant in VPS13B Underlying Cohen SyndromeAbrar Hussain, Anushree Acharya, Thashi Bharadwaj, et al.Molecular Genetics & Genomic Medicine|May 13, 2021
Identification of microduplications at Xp21.2 and Xq13.1 in neurodevelopmental disordersHannaleena Kokkonen, Auli Siren, Tuomo Määttä, et al.BMC Medical Genetics|July 22, 2018
Novel digenic inheritance of PCDH15 and USH1G underlies profound non-syndromic hearing impairmentIsabelle Schrauwen, Imen Chakchouk, Anushree Acharya, et al.Experimental Biology and Medicine (Maywood, N.J.)|March 15, 2021
A novel variant in DMXL2 gene is associated with autosomal dominant non-syndromic hearing impairment (DFNA71) in a Cameroonian familyEdmond Wonkam-Tingang, Isabelle Schrauwen, Kevin K Esoh, et al.Experimental and Molecular Pathology|May 25, 2020
Maternal mosaicism underlies the inheritance of a rare germline AKT3 variant which is responsible for megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome in two Roma half-siblingsRenata Szalai, Bela I Melegh, Agnes Till, et al.Journal of Human Genetics|October 29, 2019
Further evidence of involvement of TMEM132E in autosomal recessive nonsyndromic hearing impairmentKhurram Liaqat, Shabir Hussain, Muhammad Bilal, et al.Molecular Genetics & Genomic Medicine|February 12, 2022
Autosomal recessive nonsyndromic hearing impairment in two Finnish families due to the population enriched CABP2 c.637+1G>T variantThashi Bharadwaj, Isabelle Schrauwen, Anushree Acharya, et al.Genes|September 27, 2025
Novel KIAA0825 Variants Underlie Nonsyndromic Postaxial PolydactylyAbdullah, Thashi Bharadwaj, Saffia Javed, et al.Pageof 7