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

de Bruijn SE, Panneman DM, Weisschuh N, Cadena EL, Boonen EGM, Holtes LK, Astuti GDN, Cremers FPM, Leijsten N, Corominas J, Gilissen C, Skowronska A, Woodley J, Beggs AD, Toulis V, Chen D, Cheetham ME, Hardcastle AJ, McLaren TL, Lamey TM, Thompson JA, Chen FK, de Roach JN, Urwin IR, Sullivan LS, Roosing S.

Open source

DOI: 10.3389/fgene.2024.1469686
Published: 2024-10-23
Container: Front Genet
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.3389/fgene.2024.1469686,
  title = {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 SE and  Panneman DM and  Weisschuh N and  Cadena EL and  Boonen EGM and  Holtes LK and  Astuti GDN and  Cremers FPM and  Leijsten N and  Corominas J and  Gilissen C and  Skowronska A and  Woodley J and  Beggs AD and  Toulis V and  Chen D and  Cheetham ME and  Hardcastle AJ and  McLaren TL and  Lamey TM and  Thompson JA and  Chen FK and  de Roach JN and  Urwin IR and  Sullivan LS and  Roosing S.},
  year = {2024},
  journal = {Front Genet},
  doi = {10.3389/fgene.2024.1469686},
  url = {https://doi.org/10.3389/fgene.2024.1469686}
}

RIS

TY  - JOUR
TI  - Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.
AU  - de Bruijn SE
AU  -  Panneman DM
AU  -  Weisschuh N
AU  -  Cadena EL
AU  -  Boonen EGM
AU  -  Holtes LK
AU  -  Astuti GDN
AU  -  Cremers FPM
AU  -  Leijsten N
AU  -  Corominas J
AU  -  Gilissen C
AU  -  Skowronska A
AU  -  Woodley J
AU  -  Beggs AD
AU  -  Toulis V
AU  -  Chen D
AU  -  Cheetham ME
AU  -  Hardcastle AJ
AU  -  McLaren TL
AU  -  Lamey TM
AU  -  Thompson JA
AU  -  Chen FK
AU  -  de Roach JN
AU  -  Urwin IR
AU  -  Sullivan LS
AU  -  Roosing S.
PY  - 2024
JO  - Front Genet
DO  - 10.3389/fgene.2024.1469686
UR  - https://doi.org/10.3389/fgene.2024.1469686
ER  -

APA

SE, D. B., DM, P., N, W., EL, C., EGM, B., LK, H., GDN, A., FPM, C., N, L., J, C., C, G., A, S., J, W., AD, B., V, T., D, C., ME, C., AJ, H., TL, M., TM, L., JA, T., FK, C., JN, D. R., IR, U., LS, S., & S., R. (2024). Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach.. Front Genet. https://doi.org/10.3389/fgene.2024.1469686

Source records

europe-pmc · retrieved 2026-09-27T04:50:13.828Z
doaj · retrieved 2026-09-27T04:50:13.834Z