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Impairment of SLC17A8 encoding vesicular glutamate transporter-3, VGLUT3, underlies nonsyndromic deafness DFNA25 and inner hair cell dysfunction in null mice.
Ruel J, Emery S, Nouvian R, Bersot T, Amilhon B, Van Rybroek JM, Rebillard G, Lenoir M, Eybalin M, Delprat B, Sivakumaran TA, Giros B, El Mestikawy S, Moser T, Smith RJ, Lesperance MM, Puel JL. Ruel J, et al. Among authors: van rybroek jm. Am J Hum Genet. 2008 Aug;83(2):278-92. doi: 10.1016/j.ajhg.2008.07.008. Am J Hum Genet. 2008. PMID: 18674745 Free PMC article.
Mutation in the COCH gene is associated with superior semicircular canal dehiscence.
Hildebrand MS, Tack D, Deluca A, Hur IA, Van Rybroek JM, McMordie SJ, Muilenburg A, Hoskinson DP, Van Camp G, Pensak ML, Storper IS, Huygen PL, Casavant TL, Smith RJ. Hildebrand MS, et al. Among authors: van rybroek jm. Am J Med Genet A. 2009 Feb;149A(2):280-5. doi: 10.1002/ajmg.a.32618. Am J Med Genet A. 2009. PMID: 19161137 Free PMC article. No abstract available.
EYA1 expression in the developing inner ear.
Bane BC, Van Rybroek JM, Kolker SJ, Weeks DL, Manaligod JM. Bane BC, et al. Among authors: van rybroek jm. Ann Otol Rhinol Laryngol. 2005 Nov;114(11):853-8. doi: 10.1177/000348940511401108. Ann Otol Rhinol Laryngol. 2005. PMID: 16358604