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PreprintAll rights reservedmedRxiv

A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases

  • K. Rodenburg
  • S. Shliaga
  • L. Haer-Wigman
  • A. T. Vulto-van Silfhout
  • E. G. M. Boonen
  • L. K. Holtes
  • G. D. N. Astuti
  • W. Berger
  • T. Ben-Yosef
  • C. J. F. Boon
  • R. Derks
  • G. J. Farrar
18 more authors
  • C. Gilissen
  • E. Heon
  • C. B. Hoyng
  • C. C. W. Klaver
  • H. Y. Kroes
  • P. Liskova
  • M. Oldak
  • D. Ozieblo
  • J. B. ten Brink
  • A. S. Plomp
  • A. A. H. J. Thiadens
  • J. Verheij
  • M. Weener
  • S. Kohl
  • F. P. M. Cremers
  • L. I. van den Born
  • S. E. de Bruijn
  • S. Roosing1
  1. 11. Department of Human Genetics, Radboud University Medical Center, Geert Grooteplein Zuid 10, Nijmegen, The Netherlands
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Cite

BibTeXRIS
BibTeX
@misc{rodenburg2026stepwise,
  title = {{A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases}},
  author = {K. Rodenburg and S. Shliaga and L. Haer-Wigman and A. T. Vulto-van Silfhout and E. G. M. Boonen and L. K. Holtes and G. D. N. Astuti and W. Berger and T. Ben-Yosef and C. J. F. Boon and R. Derks and G. J. Farrar and C. Gilissen and E. Heon and C. B. Hoyng and C. C. W. Klaver and H. Y. Kroes and P. Liskova and M. Oldak and D. Ozieblo and J. B. ten Brink and A. S. Plomp and A. A. H. J. Thiadens and J. Verheij and M. Weener and S. Kohl and F. P. M. Cremers and L. I. van den Born and S. E. de Bruijn and S. Roosing},
  howpublished = {medRxiv},
  year = {2026},
  month = sep,
  doi = {10.64898/2026.09.23.26363559},
  url = {https://www.medrxiv.org/content/10.64898/2026.09.23.26363559v1},
}
RIS
TY  - UNPB
TI  - A stepwise short- and long-read whole genome sequencing strategy resolves previous genetically unresolved inherited retinal disease cases
AU  - K. Rodenburg
AU  - S. Shliaga
AU  - L. Haer-Wigman
AU  - A. T. Vulto-van Silfhout
AU  - E. G. M. Boonen
AU  - L. K. Holtes
AU  - G. D. N. Astuti
AU  - W. Berger
AU  - T. Ben-Yosef
AU  - C. J. F. Boon
AU  - R. Derks
AU  - G. J. Farrar
AU  - C. Gilissen
AU  - E. Heon
AU  - C. B. Hoyng
AU  - C. C. W. Klaver
AU  - H. Y. Kroes
AU  - P. Liskova
AU  - M. Oldak
AU  - D. Ozieblo
AU  - J. B. ten Brink
AU  - A. S. Plomp
AU  - A. A. H. J. Thiadens
AU  - J. Verheij
AU  - M. Weener
AU  - S. Kohl
AU  - F. P. M. Cremers
AU  - L. I. van den Born
AU  - S. E. de Bruijn
AU  - S. Roosing
PY  - 2026
DA  - 2026/09/23
PB  - medRxiv
DO  - 10.64898/2026.09.23.26363559
UR  - https://www.medrxiv.org/content/10.64898/2026.09.23.26363559v1
ER  -