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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2002 5
2003 7
2004 7
2005 3
2006 4
2008 2
2009 5
2010 3
2011 12
2012 4
2013 3
2014 8
2015 4
2016 8
2017 5
2018 9
2019 2
2020 2
2021 7
2022 5
2023 6
2024 5

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105 results

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Page 1
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction.
Reurink J, Weisschuh N, Garanto A, Dockery A, van den Born LI, Fajardy I, Haer-Wigman L, Kohl S, Wissinger B, Farrar GJ, Ben-Yosef T, Pfiffner FK, Berger W, Weener ME, Dudakova L, Liskova P, Sharon D, Salameh M, Offenheim A, Heon E, Girotto G, Gasparini P, Morgan A, Bergen AA, Ten Brink JB, Klaver CCW, Tranebjærg L, Rendtorff ND, Vermeer S, Smits JJ, Pennings RJE, Aben M, Oostrik J, Astuti GDN, Corominas Galbany J, Kroes HY, Phan M, van Zelst-Stams WAG, Thiadens AAHJ, Verheij JBGM, van Schooneveld MJ, de Bruijn SE, Li CHZ, Hoyng CB, Gilissen C, Vissers LELM, Cremers FPM, Kremer H, van Wijk E, Roosing S. Reurink J, et al. Among authors: pennings rje. HGG Adv. 2023 Jan 18;4(2):100181. doi: 10.1016/j.xhgg.2023.100181. eCollection 2023 Apr 13. HGG Adv. 2023. PMID: 36785559 Free PMC article.
Hearing Rehabilitation with Active Middle Ear Implants.
Donnelly NP, Pennings RJE. Donnelly NP, et al. Among authors: pennings rje. Adv Otorhinolaryngol. 2018;81:43-56. doi: 10.1159/000485529. Epub 2018 Apr 6. Adv Otorhinolaryngol. 2018. PMID: 29794434 Review.
Stable long-term outcomes after cochlear implantation in subjects with TMPRSS3 associated hearing loss: a retrospective multicentre study.
Fehrmann MLA, Huinck WJ, Thijssen MEG, Haer-Wigman L, Yntema HG, Rotteveel LJC, Widdershoven JCC, Goderie T, van Dooren MF, Hoefsloot EH, van der Schroeff MP, Mylanus EAM; DOOFNL consortium; Lanting CP, Pennings RJE. Fehrmann MLA, et al. Among authors: pennings rje. J Otolaryngol Head Neck Surg. 2023 Dec 15;52(1):82. doi: 10.1186/s40463-023-00680-3. J Otolaryngol Head Neck Surg. 2023. PMID: 38102706 Free PMC article.
The natural history and genotype-phenotype correlations of TMPRSS3 hearing loss: an international, multi-center, cohort analysis.
Colbert BM, Lanting C, Smeal M, Blanton S, Dykxhoorn DM, Tang PC, Getchell RL, Velde H, Fehrmann M, Thorpe R, Chapagain P, Elkhaligy H, Kremer H, Yntema H, Haer-Wigman L, Redfield S, Sun T, Bruijn S, Plomp A, Goderie T, van de Kamp J, Free RH, Wassink-Ruiter JK, Widdershoven J, Vanhoutte E, Rotteveel L, Kriek M, van Dooren M, Hoefsloot L, de Gier HHW; DOOFNL Consortium; Schaefer A, Kolbe D, Azaiez H, Rabie G, Aburayyan A, Kawas M, Kanaan M, Holder J, Usami SI, Chen Z, Dai P, Holt J, Nelson R, Choi BY, Shearer E, Smith RJH, Pennings R, Liu XZ. Colbert BM, et al. Hum Genet. 2024 May;143(5):721-734. doi: 10.1007/s00439-024-02648-3. Epub 2024 Apr 30. Hum Genet. 2024. PMID: 38691166 Free PMC article.
Multicentric Longitudinal Prospective Study in a European Cohort of MYO7A Patients: Disease Course and Implications for Gene Therapy.
Testa F, Carreño E, van den Born LI, Melillo P, Perea-Romero I, Di Iorio V, Risca G, Iodice CM, Pennings RJE, Karali M, Banfi S, Auricchio A, Galimberti S, Ayuso C, Simonelli F. Testa F, et al. Among authors: pennings rje. Invest Ophthalmol Vis Sci. 2024 Jun 3;65(6):25. doi: 10.1167/iovs.65.6.25. Invest Ophthalmol Vis Sci. 2024. PMID: 38884554 Free PMC article.
Audiometric characteristics of USH2a patients.
Leijendeckers JM, Pennings RJ, Snik AF, Bosman AJ, Cremers CW. Leijendeckers JM, et al. Audiol Neurootol. 2009;14(4):223-31. doi: 10.1159/000189265. Epub 2009 Jan 8. Audiol Neurootol. 2009. PMID: 19129697
Cochlear supporting cells require GAS2 for cytoskeletal architecture and hearing.
Chen T, Rohacek AM, Caporizzo M, Nankali A, Smits JJ, Oostrik J, Lanting CP, Kücük E, Gilissen C, van de Kamp JM, Pennings RJE, Rakowiecki SM, Kaestner KH, Ohlemiller KK, Oghalai JS, Kremer H, Prosser BL, Epstein DJ. Chen T, et al. Among authors: pennings rje. Dev Cell. 2021 May 17;56(10):1526-1540.e7. doi: 10.1016/j.devcel.2021.04.017. Epub 2021 May 7. Dev Cell. 2021. PMID: 33964205 Free PMC article.
Cervical dystonia after ear surgery.
van Gaalen J, Pennings RJ, Beynon AJ, Münchau A, Bloem BR, van de Warrenburg BP. van Gaalen J, et al. Parkinsonism Relat Disord. 2012 Jun;18(5):669-71. doi: 10.1016/j.parkreldis.2011.10.004. Epub 2011 Oct 22. Parkinsonism Relat Disord. 2012. PMID: 22018913
105 results