Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

de Bruijn, Suzanne E.; Panneman, Daan M.; Weisschuh, Nicole; Cadena, Elizabeth L.; Boonen, Erica G. M.; Holtes, Lara K.; Astuti, Galuh D. N.; Cremers, Frans P. M.; Leijsten, Nico; Corominas, Jordi; Gilissen, Christian; Skowronska, Anna; Woodley, Jessica; Beggs, Andrew D.; Toulis, Vasileios; Chen, Di; Cheetham, Michael E.; Hardcastle, Alison J.; McLaren, Terri L.; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; de Roach, John N.; Urwin, Isabella R.; Sullivan, Lori S.; Roosing, Susanne

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

Author:

de Bruijn, Suzanne E.; Panneman, Daan M.; Weisschuh, Nicole; Cadena, Elizabeth L.; Boonen, Erica G. M.; Holtes, Lara K.; Astuti, Galuh D. N.; Cremers, Frans P. M.; Leijsten, Nico; Corominas, Jordi; Gilissen, Christian; Skowronska, Anna; Woodley, Jessica; Beggs, Andrew D.; Toulis, Vasileios; Chen, Di; Cheetham, Michael E.; Hardcastle, Alison J.; McLaren, Terri L.; Lamey, Tina M.; Thompson, Jennifer A.; Chen, Fred K.; de Roach, John N.; Urwin, Isabella R.; Sullivan, Lori S.; Roosing, Susanne

Tübinger Autor(en):

Weisschuh, Nicole

Published in:

Frontiers in Genetics (2024), Bd. 15, Article 1469686

Verlagsangabe:

Lausanne : Frontiers Media Sa

Language:

English

Full text:

http://dx.doi.org/10.3389/fgene.2024.1469686

ISSN:

1664-8021