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A RIPOR2 in-frame deletion is a frequent and highly penetrant cause of adult-onset hearing loss.
de Bruijn SE, Smits JJ, Liu C, Lanting CP, Beynon AJ, Blankevoort J, Oostrik J, Koole W, de Vrieze E, Cremers CWRJ, Cremers FPM, Roosing S, Yntema HG, Kunst HPM, Zhao B, Pennings RJE, Kremer H; DOOFNL Consortium. de Bruijn SE, et al. J Med Genet. 2020 Jul 6:jmedgenet-2020-106863. doi: 10.1136/jmedgenet-2020-106863. Online ahead of print. J Med Genet. 2020. PMID: 32631815 Free PMC article.
Collaboration Around Rare Bone Diseases Leads to the Unique Organizational Incentive of the Amsterdam Bone Center.
Eekhoff EMW, Micha D, Forouzanfar T, de Vries TJ, Netelenbos JC, Klein-Nulend J, van Loon JJWA, Lubbers WD, Schwarte L, Schober P, Raijmakers PGHM, Teunissen BP, de Graaf P, Lammertsma AA, Yaqub MM, Botman E, Treurniet S, Smilde BJ, Bökenkamp A, Boonstra A, Kamp O, Nieuwenhuijzen JA, Visser MC, Baayen HJC, Dahele M, Eeckhout GAM, Goderie TPM, Smits C, Gilijamse M, Karagozoglu KH, van de Valk P, Dickhoff C, Moll AC, Verbraak FFD, Curro-Tafili KKR, Ghyczy EAE, Rustemeyer T, Saeed P, Maugeri A, Pals G, Ridwan-Pramana A, Pekel E, Schoenmaker T, Lems W, Winters HAH, Botman M, Giannakópoulos GF, Koolwijk P, Janssen JJWM, Kloen P, Bravenboer N, Smit JM, Helder MN. Eekhoff EMW, et al. Among authors: goderie tpm. Front Endocrinol (Lausanne). 2020 Aug 11;11:481. doi: 10.3389/fendo.2020.00481. eCollection 2020. Front Endocrinol (Lausanne). 2020. PMID: 32849274 Free PMC article.
Exploring the missing heritability in subjects with hearing loss, enlarged vestibular aqueducts, and a single or no pathogenic SLC26A4 variant.
Smits JJ, de Bruijn SE, Lanting CP, Oostrik J, O'Gorman L, Mantere T; DOOFNL Consortium; Cremers FPM, Roosing S, Yntema HG, de Vrieze E, Derks R, Hoischen A, Pegge SAH, Neveling K, Pennings RJE, Kremer H. Smits JJ, et al. Hum Genet. 2022 Apr;141(3-4):465-484. doi: 10.1007/s00439-021-02336-6. Epub 2021 Aug 19. Hum Genet. 2022. PMID: 34410491 Free PMC article.
19 results