The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations

Petra Liskova, Lubica Dudakova, Karolina Kaminska, Laura Kühlewein, Stefanida Shliaga, Rina Leibu, Miriam Ehrenberg, Dinah Zur, Jana Zernant, Miriam Bauwens, Gavin Arno, Isabelle Müller, Focke Ziemssen, Viktoria Bothe, Francesca Cancellieri, Julie De Zaeytijd, Pascale Mazzola, Winston Lee, Bohdan Kousal, Marie Vajter, L. Ingeborgh van den Born, Anton Sonntag, Yoeri van Leeuwen, Dzenita Smailhodzic, Caroline C.W. Klaver, Tobias B. Haack, Bernd Wissinger, Andrew R. Webster, Lonneke Haer-Wigman, Siying Lin, Moreno Menghini, Konrad Platzer, Elfride De Baere, Rando Allikmets, Carlo Rivolta, Susanne Roosing, Susanne Kohl, Tamar Ben-Yosef, Mathieu Quinodoz

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DOI: 10.1016/j.xhgg.2026.100659
Published: 2026-10
Container: Human Genetics and Genomics Advances
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.xhgg.2026.100659,
  title = {The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations},
  author = {Petra Liskova and Lubica Dudakova and Karolina Kaminska and Laura Kühlewein and Stefanida Shliaga and Rina Leibu and Miriam Ehrenberg and Dinah Zur and Jana Zernant and Miriam Bauwens and Gavin Arno and Isabelle Müller and Focke Ziemssen and Viktoria Bothe and Francesca Cancellieri and Julie De Zaeytijd and Pascale Mazzola and Winston Lee and Bohdan Kousal and Marie Vajter and L. Ingeborgh van den Born and Anton Sonntag and Yoeri van Leeuwen and Dzenita Smailhodzic and Caroline C.W. Klaver and Tobias B. Haack and Bernd Wissinger and Andrew R. Webster and Lonneke Haer-Wigman and Siying Lin and Moreno Menghini and Konrad Platzer and Elfride De Baere and Rando Allikmets and Carlo Rivolta and Susanne Roosing and Susanne Kohl and Tamar Ben-Yosef and Mathieu Quinodoz},
  year = {2026},
  journal = {Human Genetics and Genomics Advances},
  doi = {10.1016/j.xhgg.2026.100659},
  url = {https://doi.org/10.1016/j.xhgg.2026.100659}
}

RIS

TY  - JOUR
TI  - The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations
AU  - Petra Liskova
AU  - Lubica Dudakova
AU  - Karolina Kaminska
AU  - Laura Kühlewein
AU  - Stefanida Shliaga
AU  - Rina Leibu
AU  - Miriam Ehrenberg
AU  - Dinah Zur
AU  - Jana Zernant
AU  - Miriam Bauwens
AU  - Gavin Arno
AU  - Isabelle Müller
AU  - Focke Ziemssen
AU  - Viktoria Bothe
AU  - Francesca Cancellieri
AU  - Julie De Zaeytijd
AU  - Pascale Mazzola
AU  - Winston Lee
AU  - Bohdan Kousal
AU  - Marie Vajter
AU  - L. Ingeborgh van den Born
AU  - Anton Sonntag
AU  - Yoeri van Leeuwen
AU  - Dzenita Smailhodzic
AU  - Caroline C.W. Klaver
AU  - Tobias B. Haack
AU  - Bernd Wissinger
AU  - Andrew R. Webster
AU  - Lonneke Haer-Wigman
AU  - Siying Lin
AU  - Moreno Menghini
AU  - Konrad Platzer
AU  - Elfride De Baere
AU  - Rando Allikmets
AU  - Carlo Rivolta
AU  - Susanne Roosing
AU  - Susanne Kohl
AU  - Tamar Ben-Yosef
AU  - Mathieu Quinodoz
PY  - 2026
JO  - Human Genetics and Genomics Advances
DO  - 10.1016/j.xhgg.2026.100659
UR  - https://doi.org/10.1016/j.xhgg.2026.100659
ER  -

APA

Liskova, P., Dudakova, L., Kaminska, K., Kühlewein, L., Shliaga, S., Leibu, R., Ehrenberg, M., Zur, D., Zernant, J., Bauwens, M., Arno, G., Müller, I., Ziemssen, F., Bothe, V., Cancellieri, F., Zaeytijd, J. D., Mazzola, P., Lee, W., Kousal, B., Vajter, M., Born, L. I. V. D., Sonntag, A., Leeuwen, Y. V., Smailhodzic, D., Klaver, C. C., Haack, T. B., Wissinger, B., Webster, A. R., Haer-Wigman, L., Lin, S., Menghini, M., Platzer, K., Baere, E. D., Allikmets, R., Rivolta, C., Roosing, S., Kohl, S., Ben-Yosef, T., & Quinodoz, M. (2026). The AP5B1 p.Leu785Pro variant is a frequent cause of late-onset macular dystrophy with variable extraocular manifestations. Human Genetics and Genomics Advances. https://doi.org/10.1016/j.xhgg.2026.100659

Source records

crossref · retrieved 2026-09-27T01:33:53.530Z