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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: janeschitz kriegl l. 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.
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: janeschitz kriegl l. J Biophotonics. 2024 Feb;17(2):e202300274. doi: 10.1002/jbio.202300274. Epub 2023 Nov 8. J Biophotonics. 2024. PMID: 37795556
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. Among authors: janeschitz kriegl l. 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.
Multidisciplinary team directed analysis of whole genome sequencing reveals pathogenic non-coding variants in molecularly undiagnosed inherited retinal dystrophies.
Daich Varela M, Bellingham J, Motta F, Jurkute N, Ellingford JM, Quinodoz M, Oprych K, Niblock M, Janeschitz-Kriegl L, Kaminska K, Cancellieri F, Scholl HPN, Lenassi E, Schiff E, Knight H, Black G, Rivolta C, Cheetham ME, Michaelides M, Mahroo OA, Moore AT, Webster AR, Arno G. Daich Varela M, et al. Among authors: janeschitz kriegl l. Hum Mol Genet. 2023 Jan 27;32(4):595-607. doi: 10.1093/hmg/ddac227. Hum Mol Genet. 2023. PMID: 36084042 Free PMC article.
The Progression of Stargardt Disease Using Volumetric Hill of Vision Analyses Over 24 Months: ProgStar Report No.15.
Schönbach EM, Janeschitz-Kriegl L, Strauss RW, Cattaneo MEGV, Fujinami K, Birch DG, Cideciyan AV, Sunness JS, Weleber RG, Ip MS, Sadda SR, Scholl HPN; ProgStar Study Group. Schönbach EM, et al. Among authors: janeschitz kriegl l. Am J Ophthalmol. 2021 Oct;230:123-133. doi: 10.1016/j.ajo.2021.04.015. Epub 2021 May 2. Am J Ophthalmol. 2021. PMID: 33951446 Free article.
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