Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach
In summary, we describe a validated multi-step pipeline for reliable and efficient RP17-SV discovery and expand the range of disease-associated SVs. Based on these data, RP17-SVs can be considered a frequent cause of adRP which warrants the inclusion of RP17-screening as a standard diagnostic test for this disease.
Authors
- Suzanne E. de Bruijn (ORCID: https://orcid.org/0000-0003-2912-9265)
- Elizabeth L. Cadena (ORCID: https://orcid.org/0000-0003-0348-1172)
- Jessica Woodley
- John N. De Roach (ORCID: https://orcid.org/0000-0002-2682-5380)
- Nicole Weisschuh (ORCID: https://orcid.org/0000-0002-1047-6227)
- Lara K. Holtes (ORCID: https://orcid.org/0009-0000-6337-4403)
- Vasileios Toulis (ORCID: https://orcid.org/0000-0002-5516-7663)
- Christian Gilissen (ORCID: https://orcid.org/0000-0003-1693-9699)
- Andrew D. Beggs (ORCID: https://orcid.org/0000-0003-0784-2967)
- Terri L. McLaren (ORCID: https://orcid.org/0000-0003-3195-669X)
- Fred K. Chen (ORCID: https://orcid.org/0000-0003-2809-9930)
- Daan M. Panneman (ORCID: https://orcid.org/0000-0002-4384-505X)
- Isabella R. Urwin
- Galuh Astuti (ORCID: https://orcid.org/0000-0002-1524-0619)
- Nico Leijsten (ORCID: https://orcid.org/0000-0002-1003-2861)
- Anna Skowrońska (ORCID: https://orcid.org/0000-0003-3418-8198)
- Alison J. Hardcastle (ORCID: https://orcid.org/0000-0002-0038-6770)
- Erica G. M. Boonen (ORCID: https://orcid.org/0000-0003-1509-3150)
- Susanne Roosing (ORCID: https://orcid.org/0000-0001-9038-0067)
- Frans P.M. Cremers (ORCID: https://orcid.org/0000-0002-4954-5592)
- Jennifer A. Thompson (ORCID: https://orcid.org/0000-0003-3553-6457)
- Michael E. Cheetham (ORCID: https://orcid.org/0000-0001-6429-654X)
- Di Chen (ORCID: https://orcid.org/0000-0001-6321-5998)
- Tina M. Lamey
- Jordi Corominas
- Lori S. Sullivan (ORCID: https://orcid.org/0000-0001-5723-6397)
Institutions
- Radboud University Nijmegen (NL)
- The University of Western Australia (AU)
- Royal Perth Hospital (AU)
- Sir Charles Gairdner Hospital (AU)
- Radboud University Medical Center (NL)
- STZ eyetrial (DE)
- Birmingham Women’s and Children’s NHS Foundation Trust (GB)
- University College London (GB)
- University of Birmingham (GB)
- University of Tübingen (DE)
- The University of Texas Health Science Center at Houston (US)
Publication Details
- Journal
- Frontiers in Genetics
- Published
- 2024-10-23
- DOI
- https://doi.org/10.3389/fgene.2024.1469686
- Citations
- 2
- Primary Topic
- Retinal Development and Disorders
- Type
- article
- Field-Weighted Citation Impact
- 0.47