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TÃTULO: EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
AUTORES: Lenassi, Eva; Carvalho, Ana; Thormann, Anja; Abrahams, Liam; Arno, Gavin; Fletcher, Tracy; Hardcastle, Claire; Lopez, Javier; Hunt, Sarah E.; Short, Patrick; Sergouniotis, Panagiotis, I; Michaelides, Michel; Webster, Andrew; Cunningham, Fiona; Ramsden, Simon C.; Kasperaviciute, Dalia; Fitzpatrick, David R.; Genomics England Res Consortium, Graeme C.; Black, Graeme C.; Ellingford, Jamie M.;
PUBLICAÇÃO: 2023, FONTE: JOURNAL OF MEDICAL GENETICS

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TÃTULO: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTORES: Suzanne E de Bruijn; Alessia Fiorentino; Daniele Ottaviani; Stephanie Fanucchi; Uira S Melo; Julio C Corral Serrano; Timo Mulders; Michalis Georgiou; Carlo Rivolta; Nikolas Pontikos; Gavin Arno; Lisa Roberts; Jacquie Greenberg; Silvia Albert; Christian Gilissen; Marco Aben; George Rebello; Simon Mead; Lucy L Raymond; Jordi Corominas; Claire E L Smith; Hannie Kremer; Susan Downes; Graeme C Black; Andrew R Webster; Chris F Inglehearn; Ingeborgh I van den Born; Robert K Koenekoop; Michel Michaelides; Raj S Ramesar; Carel B Hoyng; Stefan Mundlos; Musa M Mhlanga; Frans P M Cremers; Michael E Cheetham; Susanne Roosing; Alison J Hardcastle; ...Mais
PUBLICAÇÃO: 2020, FONTE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, NÚMERO: 5

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