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European Journal of Medical Genetics|July 17, 2012
Interpretation of clinical relevance of X-chromosome copy number variations identified in a large cohort of individuals with cognitive disorders and/or congenital anomaliesMarjolein H Willemsen, Nicole de Leeuw, Arjan P M de Brouwer, et al.
Hearing Research|January 17, 2017
Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairmentMieke Wesdorp, Jiddeke M van de Kamp, Erik F Hensen, et al.
Genes, Chromosomes & Cancer|May 13, 2010
Noonan syndrome, the SOS1 gene and embryonal rhabdomyosarcomaMarjolijn C J Jongmans, Peter M Hoogerbrugge, Linda Hilkens, et al.
Indian Journal of Human Genetics|September 11, 2013
Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular studyFarmaditya E P Mundhofir, Willy M Nillesen, Bregje W M Van Bon, et al.
Biorxiv : the Preprint Server for Biology|March 23, 2026
Distinct mechanisms of CNV formation at the human 15q13.3 locusWolfram Höps, David Porubsky, DongAhn Yoo, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 13, 2021
Systematic analysis of short tandem repeats in 38,095 exomes provides an additional diagnostic yieldBart P G H van der Sanden, Jordi Corominas, Michelle de Groot, et al.
Human Mutation|May 4, 2011
Characterization of a novel transcript of the EHMT1 gene reveals important diagnostic implications for Kleefstra syndromeWilly M Nillesen, Helger G Yntema, Marco Moscarda, et al.
Human Genetics|October 15, 2024
Exome variant prioritization in a large cohort of hearing-impaired individuals indicates IKZF2 to be associated with non-syndromic hearing loss and guides future research of unsolved casesHedwig M Velde, Maryam Vaseghi-Shanjani, Jeroen J Smits, et al.
European Journal of Human Genetics : EJHG|October 26, 2021
Lessons learned from unsolicited findings in clinical exome sequencing of 16,482 individualsVyne van der Schoot, Lonneke Haer-Wigman, Ilse Feenstra, et al.
American Journal of Human Genetics|April 24, 2004
Mutations in the human TBX4 gene cause small patella syndromeErnie M H F Bongers, Pascal H G Duijf, Sylvia E M van Beersum, et al.
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