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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

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TITLE: Candidate exome capture identifies mutation of SDCCAG8 as the cause of a retinal-renal ciliopathy Full Text
AUTHORS: Edgar A Otto; Toby W Hurd; Rannar Airik; Moumita Chaki; Weibin Zhou; Corinne Stoetzel; Suresh B Patil; Shawn Levy; Amiya K Ghosh; Carlos A Murga Zamalloa; Jeroen van Reeuwijk; Stef J F Letteboer; Liyun Sang; Rachel H Giles; Qin Liu; Karlien L M Coene; Alejandro Estrada Cuzcano; Rob W J Collin; Heather M McLaughlin; Susanne Held; Jennifer M Kasanuki; Gokul Ramaswami; Jinny Conte; Irma Lopez; Joseph Washburn; James MacDonald; Jinghua H Hu; Yukiko Yamashita; Eamonn R Maher; Lisa M Guay Woodford; Hartmut P H Neumann; Nicholas Obermueller; Robert K Koenekoop; Carsten Bergmann; Xiaoshu S Bei; Richard A Lewis; Nicholas Katsanis; Vanda Lopes; David S Williams; Robert H Lyons; Chi V Dang; Daniela A Brito; Monica Bettencourt Dias; Xinmin Zhang; James D Cavalcoli; Gudrun Nuernberg; Peter Nuernberg; Eric A Pierce; Peter K Jackson; Corinne Antignac; Sophie Saunier; Ronald Roepman; Helene Dollfus; Hemant Khanna; Friedhelm Hildebrandt; ...More
PUBLISHED: 2010, SOURCE: NATURE GENETICS, VOLUME: 42, ISSUE: 10

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TITLE: A missense mutation in GUCY2D acts as a genetic modifier in RPE65-related Leber congenital amaurosis Full Text
AUTHORS: Silva, E ; Dharmaraj, S; Li, YY; Pina, AL; Carter, RC; Loyer, M; Traboulsi, E; Theodossiadis, G; Koenekoop, RK; Sundin, OH; Maumenee, IH;
PUBLISHED: 2004, SOURCE: Ophthalmic Genetics, VOLUME: 25, ISSUE: 3

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