Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa

de Bruijn, SE, Fiorentino, A, Ottaviani, D et al. (34 more authors) (2020) Structural Variants Create New Topological-Associated Domains and Ectopic Retinal Enhancer-Gene Contact in Dominant Retinitis Pigmentosa. The American Journal of Human Genetics, 107 (5). pp. 802-814. ISSN 0002-9297

Abstract

Metadata

Authors/Creators:
  • de Bruijn, SE
  • Fiorentino, A
  • Ottaviani, D
  • Fanucchi, S
  • Melo, US
  • Corral-Serrano, JC
  • Mulders, T
  • Georgiou, M
  • Rivolta, C
  • Pontikos, N
  • Arno, G
  • Roberts, L
  • Greenberg, J
  • Albert, S
  • Gilissen, C
  • Aben, M
  • Rebello, G
  • Mead, S
  • Raymond, FL
  • Corominas, J
  • Smith, CEL ORCID logo https://orcid.org/0000-0001-8320-5105
  • Kremer, H
  • Downes, S
  • Black, GC
  • Webster, AR
  • Inglehearn, CF ORCID logo https://orcid.org/0000-0002-5143-2562
  • van den Born, LI
  • Koenekoop, RK
  • Michaelides, M
  • Ramesar, RS
  • Hoyng, CB
  • Mundlos, S
  • Mhlanga, MM
  • Cremers, FPM
  • Cheetham, ME
  • Roosing, S
  • Hardcastle, AJ
Copyright, Publisher and Additional Information: © 2020 The Authors. This is an open access article under the terms of the Creative Commons Attribution 4.0 International (CC BY 4.0) (https://creativecommons.org/licenses/by/4.0/)
Keywords: whole-genome sequencing; dominant retinitis pigmentosa; RP17; structural variants; stem cells; retinal organoids; photoreceptor precursors cells; Hi-C; topologically associated domains; ectopic expression; GDPD
Dates:
  • Accepted: 2 September 2020
  • Published (online): 5 October 2020
  • Published: 5 November 2020
Institution: The University of Leeds
Funding Information:
FunderGrant number
Fight for SightGR586
Depositing User: Symplectic Publications
Date Deposited: 09 Oct 2020 14:47
Last Modified: 28 Jul 2022 14:10
Status: Published
Publisher: Cell Press
Identification Number: https://doi.org/10.1016/j.ajhg.2020.09.002

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