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Genes|December 24, 2021
Exome Sequencing Identifies a Novel FBN1 Variant in a Pakistani Family with Marfan Syndrome That Includes Left Ventricle Diastolic DysfunctionNadia Farooqi, Louise A Metherell, Isabelle Schrauwen, et al.
Investigative Ophthalmology & Visual Science|March 23, 2011
Autosomal recessive Stickler syndrome in two families is caused by mutations in the COL9A1 geneKonstantinos Nikopoulos, Isabelle Schrauwen, Marleen Simon, et al.
American Journal of Medical Genetics. Part A|June 15, 2007
Clinical and genetic analysis of two Tunisian otosclerosis familiesInsaf Bel Hadj Ali, Melissa Thys, Najeh Beltaief, et al.
BMC Medical Genomics|May 13, 2025
Exome sequencing revealed a novel homozygous variant in TRMT61 A in a multiplex family with atypical Cornelia de Lange Syndrome from RwandaEsther Uwibambe, Abdoulaye Yalcouyé, Elvis Twumasi Aboagye, et al.
Ear and Hearing|January 28, 2020
Genes Implicated in Rare Congenital Inner Ear and Cochleovestibular Nerve MalformationsElina Kari, Lorida Llaci, John L Go, et al.
Human Genetics|June 30, 2018
De novo variants in GREB1L are associated with non-syndromic inner ear malformations and deafnessIsabelle Schrauwen, Elina Kari, Jacob Mattox, et al.
Scientific Reports|May 16, 2024
Optical genome mapping unveils hidden structural variants in neurodevelopmental disordersIsabelle Schrauwen, Yasmin Rajendran, Anushree Acharya, et al.
Clinical Genetics|May 15, 2025
The Diverse Genetic Landscape of Hearing Impairment in South African FamiliesThashi Bharadwaj, Anushree Acharya, Noluthando Rearabetswe Manyisa, et al.
Proceedings of the National Academy of Sciences of the United States of America|February 11, 2017
Ca<sup>2+</sup>-binding protein 2 inhibits Ca<sup>2+</sup>-channel inactivation in mouse inner hair cellsMaria Magdalena Picher, Anna Gehrt, Sandra Meese, et al.
Hearing Research|September 6, 2015
A comprehensive catalogue of the coding and non-coding transcripts of the human inner earIsabelle Schrauwen, Yehudit Hasin-Brumshtein, Jason J Corneveaux, et al.
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