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Journal of Human Genetics|December 1, 2018
Identification of CACNA1D variants associated with sinoatrial node dysfunction and deafness in additional Pakistani families reveals a clinical significanceKhurram Liaqat, Isabelle Schrauwen, Syed Irfan Raza, et al.American Journal of Human Genetics|May 3, 2016
A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT ComplexJing You, Nara L Sobreira, Dustin L Gable, et al.Journal of Human Genetics|July 6, 2021
Further confirmation of the association of SLC12A2 with non-syndromic autosomal-dominant hearing impairmentSamuel M Adadey, Isabelle Schrauwen, Elvis Twumasi Aboagye, et al.European Journal of Human Genetics : EJHG|January 11, 2007
A seventh locus for otosclerosis, OTSC7, maps to chromosome 6q13-16.1Melissa Thys, Kris Van Den Bogaert, Vassiliki Iliadou, et al.Journal of Medical Genetics|September 26, 2020
Practical approach to the genetic diagnosis of unsolved dystrophinopathies: a stepwise strategy in the genomic eraZhiying Xie, Chengyue Sun, Yilin Liu, et al.Acta Neuropathologica Communications|June 5, 2020
Transcriptional profiling of multiple system atrophy cerebellar tissue highlights differences between the parkinsonian and cerebellar sub-types of the diseaseIgnazio S Piras, Christiane Bleul, Isabelle Schrauwen, et al.International Journal of Molecular Sciences|April 17, 2025
Bi-Allelic <i>MARVELD2</i> Variant Identified with Exome Sequencing in a Consanguineous Multiplex Ghanaian Family Segregating Non-Syndromic Hearing LossElvis Twumasi Aboagye, Samuel Mawuli Adadey, Leonardo Alves de Souza Rios, et al.European Journal of Human Genetics : EJHG|September 8, 2023
Variants in EFCAB7 underlie nonsyndromic postaxial polydactylyMuhammad Bilal, Hammal Khan, Muhammad Javed Khan, et al.Investigative Ophthalmology & Visual Science|June 20, 2015
A De Novo Mutation in TEAD1 Causes Non-X-Linked Aicardi SyndromeIsabelle Schrauwen, Szabolcs Szelinger, Ashley L Siniard, et al.Elife|June 19, 2019
Family history of Alzheimer's disease alters cognition and is modified by medical and genetic factorsJoshua S Talboom, Asta Håberg, Matthew D De Both, et al.Pageof 13