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TITLE: Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases
AUTHORS: Uira Souto Melo; Robert Schoepflin; Rocio Acuna Hidalgo; Martin Atta Mensah; Bjoern Fischer Zirnsak; Manuel Holtgrewe; Marius Konstantin Klever; Seval Tuerkmen; Verena Heinrich; Ilina Datkhaeva Pluym; Eunice Matoso; Sergio Bernardo de Sousa; Pedro Louro ; Wiebke Huelsemann; Monika Cohen; Andreas Dufke; Anna Latos Bielenska; Martin Vingron; Vera Kalscheuer; Fabiola Quintero Rivera; Malte Spielmann; Stefan Mundlos; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 106, ISSUE: 6
INDEXED IN: Scopus WOS
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TITLE: Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa
AUTHORS: 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; ...More
PUBLISHED: 2020, SOURCE: AMERICAN JOURNAL OF HUMAN GENETICS, VOLUME: 107, ISSUE: 5
INDEXED IN: Scopus WOS