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TBC1D32 variants disrupt retinal ciliogenesis and cause retinitis pigmentosa.
Bocquet B, Borday C, Erkilic N, Mamaeva D, Donval A, Masson C, Parain K, Kaminska K, Quinodoz M, Perea-Romero I, Garcia-Garcia G, Jimenez-Medina C, Boukhaddaoui H, Coget A, Leboucq N, Calzetti G, Gandolfi S, Percesepe A, Barili V, Uliana V, Delsante M, Bozzetti F, Scholl HP, Corton M, Ayuso C, Millan JM, Rivolta C, Meunier I, Perron M, Kalatzis V. Bocquet B, et al. Among authors: scholl hp. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 Free PMC article.
Detection of elusive DNA copy-number variations in hereditary disease and cancer through the use of noncoding and off-target sequencing reads.
Quinodoz M, Kaminska K, Cancellieri F, Han JH, Peter VG, Celik E, Janeschitz-Kriegl L, Schärer N, Hauenstein D, György B, Calzetti G, Hahaut V, Custódio S, Sousa AC, Wada Y, Murakami Y, Fernández AA, Hernández CR, Minguez P, Ayuso C, Nishiguchi KM, Santos C, Santos LC, Tran VH, Vaclavik V, Scholl HPN, Rivolta C. Quinodoz M, et al. Among authors: scholl hpn. Am J Hum Genet. 2024 Apr 4;111(4):701-713. doi: 10.1016/j.ajhg.2024.03.001. Epub 2024 Mar 25. Am J Hum Genet. 2024. PMID: 38531366 Free PMC article.
Endpoints for clinical trials in ophthalmology.
Schmetterer L, Scholl H, Garhöfer G, Janeschitz-Kriegl L, Corvi F, Sadda SR, Medeiros FA. Schmetterer L, et al. Prog Retin Eye Res. 2023 Nov;97:101160. doi: 10.1016/j.preteyeres.2022.101160. Epub 2023 Jan 2. Prog Retin Eye Res. 2023. PMID: 36599784 Free article. Review.
287 results