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Human Genetics|July 22, 2021
Identification of autosomal recessive nonsyndromic hearing impairment genes through the study of consanguineous and non-consanguineous families: past, present, and futureAnushree Acharya, Isabelle Schrauwen, Suzanne M Leal
Annals of Human Genetics|August 30, 2022
A splice site variant in TCTN3 underlies an atypical form of orofaciodigital syndrome IVShabir Hussain, Shoaib Nawaz, Hammal Khan, et al.
Bone|March 5, 2026
HOXD12 a candidate gene for a novel form of synpolydactylyHammal Khan, Muhammad Bilal, Thashi Bharadwaj, et al.
Case Reports in Genetics|August 21, 2019
A Start Codon Variant in NOG Underlies Symphalangism and Ossicular Chain Malformations Affecting Both the Incus and the StapesNathan R Lindquist, Eric N Appelbaum, Anushree Acharya, et al.
BMC Medical Genomics|February 5, 2025
A pathogenic COL7A1 variant highlights semi-dominant inheritance in dystrophic epidermolysis bullosaSaira Sattar, Thashi Bharadwaj, Umm-E- Kalsoom, et al.
BMC Medical Genomics|December 19, 2024
THBS1 is a new autosomal recessive non-syndromic hearing impairment geneThashi Bharadwaj, Anushree Acharya, Fati Ullah Khan, et al.
American Journal of Medical Genetics. Part A|November 17, 2023
A novel variant in CYFIP2 in a girl with severe disabilities and bilateral perisylvian polymicrogyriaTommi Salokivi, Riitta Parkkola, Yasmin Rajendran, et al.
BMC Geriatrics|August 26, 2018
Depression, malnutrition, and health-related quality of life among Nepali older patientsSaruna Ghimire, Binaya Kumar Baral, Buddhi Raj Pokhrel, 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.
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