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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. 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.
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.
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
de Bruijn SE, Rodenburg K, Corominas J, Ben-Yosef T, Reurink J, Kremer H, Whelan L, Plomp AS, Berger W, Farrar GJ, Ferenc Kovács Á, Fajardy I, Hitti-Malin RJ, Weisschuh N, Weener ME, Sharon D, Pennings RJE, Haer-Wigman L, Hoyng CB, Nelen MR, Vissers LELM, van den Born LI, Gilissen C, Cremers FPM, Hoischen A, Neveling K, Roosing S. de Bruijn SE, et al. Among authors: pennings rje. Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16. Genet Med. 2023. PMID: 36524988 Free article.
Long-Term Outcomes of Cochlear Implantation in Usher Syndrome.
Fehrmann MLA, Lanting CP, Haer-Wigman L, Yntema HG, Mylanus EAM, Huinck WJ, Pennings RJE. Fehrmann MLA, et al. Among authors: pennings rje. Ear Hear. 2024 Nov-Dec 01;45(6):1542-1553. doi: 10.1097/AUD.0000000000001544. Epub 2024 Jul 11. Ear Hear. 2024. PMID: 38987893 Free PMC article.
Evaluation of Sleep Quality and Fatigue in Patients with Usher Syndrome Type 2a.
Hendricks JM, Metz JR, Velde HM, Weeda J, Hartgers F, Yzer S, Hoyng CB, Pennings RJE, Collin RWJ, Boss MHM, de Vrieze E, van Wijk E. Hendricks JM, et al. Among authors: pennings rje. Ophthalmol Sci. 2023 May 5;3(4):100323. doi: 10.1016/j.xops.2023.100323. eCollection 2023 Dec. Ophthalmol Sci. 2023. PMID: 37334034 Free PMC article.
Genetic Evaluation of Prelingual Hearing Impairment: Recommendations of an European Network for Genetic Hearing Impairment.
Jonard L, Brotto D, Moreno-Pelayo MA, Del Castillo I, Kremer H, Pennings R, Caria H, Fialho G, Boudewyns A, Van Camp G, Ołdak M, Oziębło D, Deggouj N, De Siati RD, Gasparini P, Girotto G, Verstreken M, Dossena S, Roesch S, Battelino S, Trebušak Podkrajšek K, Warnecke A, Lenarz T, Lesinski-Schiedat A, Mondain M, Roux AF, Denoyelle F, Loundon N, Serey Gaut M, Trevisi P, Rubinato E, Martini A, Marlin S. Jonard L, et al. Audiol Res. 2023 May 10;13(3):341-346. doi: 10.3390/audiolres13030029. Audiol Res. 2023. PMID: 37218840 Free PMC article.
Genetic Hearing Loss Affects Cochlear Processing.
Lanting C, Snik A, Leijendeckers J, Bosman A, Pennings R. Lanting C, et al. Genes (Basel). 2022 Oct 22;13(11):1923. doi: 10.3390/genes13111923. Genes (Basel). 2022. PMID: 36360160 Free PMC article.
122 results