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Journal of Human Genetics|October 10, 2014
A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani familySaima Siddiqi, Muhammad Ismail, Jaap Oostrik, et al.Microbial Pathogenesis|March 13, 2003
Involvement of lipooligosaccharides of Haemophilus influenzae and Neisseria meningitidis in defensin-enhanced bacterial adherence to epithelial cellsAnnelies D Gorter, Jaap Oostrik, Peter van der Ley, et al.Journal of Human Genetics|November 1, 2013
Novel mutation in AAA domain of BCS1L causing Bjornstad syndromeSaima Siddiqi, Saadat Siddiq, Atika Mansoor, et al.The Annals of Otology, Rhinology, and Laryngology|May 19, 2011
Audioprofile-directed successful mutation analysis in a DFNA2/KCNQ4 (p.Leu274His) familyAnne-Martine R de Heer, Margit Schraders, Jaap Oostrik, et al.The Annals of Otology, Rhinology, and Laryngology|June 25, 2009
Audiometric and vestibular features in a second Dutch DFNA20/26 family with a novel mutation in ACTG1Anne-Martine R de Heer, Patrick L M Huygen, Rob W J Collin, et al.International Journal of Molecular Sciences|November 11, 2022
Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2AJanine Reurink, Jaap Oostrik, Marco Aben, et al.Molecular Therapy. Nucleic Acids|April 5, 2021
AON-based degradation of c.151C>T mutant COCH transcripts associated with dominantly inherited hearing impairment DFNA9Erik de Vrieze, Jorge Cañas Martín, Jolien Peijnenborg, et al.Audiology & Neuro-Otology|January 22, 2011
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1Anne-Martine R de Heer, Rob W J Collin, Patrick L M Huygen, et al.Genes|February 25, 2023
Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38Hedwig M Velde, Xanne J J Huizenga, Helger G Yntema, et al.American Journal of Human Genetics|March 30, 2010
Mutations in PTPRQ are a cause of autosomal-recessive nonsyndromic hearing impairment DFNB84 and associated with vestibular dysfunctionMargit Schraders, Jaap Oostrik, Patrick L M Huygen, et al.Pageof 5