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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 <i>DMXL2</i> 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.American Journal of Medical Genetics. Part A|April 11, 2012
COL1A1 association and otosclerosis: a meta-analysisIsabelle Schrauwen, Ayda Khalfallah, Megan Ealy, 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.Human Genetics|July 5, 2018
A variant in LMX1A causes autosomal recessive severe-to-profound hearing impairmentIsabelle Schrauwen, Imen Chakchouk, Khurram Liaqat, et al.Molecular Genetics & Genomic Medicine|October 10, 2019
A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing lossElina Kari, Lorida Llaci, John L Go, et al.Genes|September 27, 2025
Novel <i>KIAA0825</i> Variants Underlie Nonsyndromic Postaxial PolydactylyAbdullah, Thashi Bharadwaj, Saffia Javed, et al.The Laryngoscope|March 25, 2011
Phenotype of the first otosclerosis family linked to OTSC10Nicole J D Weegerink, Isabelle Schrauwen, Patrick L M Huygen, et al.Pageof 13