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European Journal of Human Genetics : EJHG|March 7, 2025
Mendelian non-syndromic and syndromic hearing loss genes contribute to presbycusisDiana M Cornejo-Sanchez, Thashi Bharadwaj, Rui Dong, et al.Brain Communications|May 7, 2024
Heterogeneous genetic patterns in bilateral perisylvian polymicrogyria: insights from a Finnish family cohortIrma Järvelä, Ritva Paetau, Yasmin Rajendran, et al.Genes|June 27, 2020
Autosomal Dominantly Inherited GREB1L Variants in Individuals with Profound Sensorineural Hearing ImpairmentIsabelle Schrauwen, Khurram Liaqat, Isabelle Schatteman, et al.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.Otology & Neurotology : Official Publication of the American Otological Society, American Neurotology Society [And] European Academy of Otology and Neurotology|February 5, 2014
Rare variants in BMP2 and BMP4 found in otosclerosis patients reduce Smad signalingMegan Ealy, Nicole C Meyer, Johnny Cruz Corchado, et al.Hippocampus|April 6, 2017
Whole transcriptome profiling of the human hippocampus suggests an involvement of the KIBRA rs17070145 polymorphism in differential activation of the MAPK signaling pathwayIgnazio S Piras, Jonida Krate, Isabelle Schrauwen, et al.Biomed Research International|April 24, 2023
A Novel Variant in <i>VPS13B</i> Underlying Cohen SyndromeAbrar Hussain, Anushree Acharya, Thashi Bharadwaj, et al.Journal of Human Genetics|December 14, 2012
Genome-wide analysis reveals a novel autosomal-recessive hearing loss locus DFNB80 on chromosome 2p16.1-p21Mohamed Ali Mosrati, Isabelle Schrauwen, Mariem Ben Saiid, 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.Pageof 13