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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.
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. JCI Insight. 2023 Nov 8;8(21):e169426. doi: 10.1172/jci.insight.169426. JCI Insight. 2023. PMID: 37768732 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.
Human selection bias drives the linear nature of the more ground truth effect in explainable deep learning optical coherence tomography image segmentation.
Maloca PM, Pfau M, Janeschitz-Kriegl L, Reich M, Goerdt L, Holz FG, Müller PL, Valmaggia P, Fasler K, Keane PA, Zarranz-Ventura J, Zweifel S, Wiesendanger J, Kaiser P, Enz TJ, Rothenbuehler SP, Hasler PW, Juedes M, Freichel C, Egan C, Tufail A, Scholl HPN, Denk N. Maloca PM, et al. Among authors: scholl hpn. J Biophotonics. 2024 Feb;17(2):e202300274. doi: 10.1002/jbio.202300274. Epub 2023 Nov 8. J Biophotonics. 2024. PMID: 37795556
258 results