Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy

Abigail R. Moye, Caitlyn L. McCafferty, Siying Lin, Ji Hoon Han, Lubica Dudakova, Kim Rodenburg, Viktória Szabó, Zoltán Zsolt Nagy, Dinah Zur, Marie Vajter, Bohdan Kousal, Alexandre P. Moulin, Alexandra Graff-Meyer, Susanne Roosing, Omar A. Mahroo, Gavin Arno, Andrew R. Webster, Tamar Ben-Yosef, Petra Liskova, Benjamin D. Engel, Ditta Zobor, Mathieu Quinodoz, Carlo Rivolta

Open source

DOI: 10.1016/j.ajhg.2026.02.001
Published: 2026-03
Container: The American Journal of Human Genetics
Publisher: Elsevier BV
Open access: unknown

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Cite this work

BibTeX

@article{allodium:10.1016/j.ajhg.2026.02.001,
  title = {Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy},
  author = {Abigail R. Moye and Caitlyn L. McCafferty and Siying Lin and Ji Hoon Han and Lubica Dudakova and Kim Rodenburg and Viktória Szabó and Zoltán Zsolt Nagy and Dinah Zur and Marie Vajter and Bohdan Kousal and Alexandre P. Moulin and Alexandra Graff-Meyer and Susanne Roosing and Omar A. Mahroo and Gavin Arno and Andrew R. Webster and Tamar Ben-Yosef and Petra Liskova and Benjamin D. Engel and Ditta Zobor and Mathieu Quinodoz and Carlo Rivolta},
  year = {2026},
  journal = {The American Journal of Human Genetics},
  doi = {10.1016/j.ajhg.2026.02.001},
  url = {https://doi.org/10.1016/j.ajhg.2026.02.001}
}

RIS

TY  - JOUR
TI  - Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy
AU  - Abigail R. Moye
AU  - Caitlyn L. McCafferty
AU  - Siying Lin
AU  - Ji Hoon Han
AU  - Lubica Dudakova
AU  - Kim Rodenburg
AU  - Viktória Szabó
AU  - Zoltán Zsolt Nagy
AU  - Dinah Zur
AU  - Marie Vajter
AU  - Bohdan Kousal
AU  - Alexandre P. Moulin
AU  - Alexandra Graff-Meyer
AU  - Susanne Roosing
AU  - Omar A. Mahroo
AU  - Gavin Arno
AU  - Andrew R. Webster
AU  - Tamar Ben-Yosef
AU  - Petra Liskova
AU  - Benjamin D. Engel
AU  - Ditta Zobor
AU  - Mathieu Quinodoz
AU  - Carlo Rivolta
PY  - 2026
JO  - The American Journal of Human Genetics
DO  - 10.1016/j.ajhg.2026.02.001
UR  - https://doi.org/10.1016/j.ajhg.2026.02.001
ER  -

APA

Moye, A. R., McCafferty, C. L., Lin, S., Han, J. H., Dudakova, L., Rodenburg, K., Szabó, V., Nagy, Z. Z., Zur, D., Vajter, M., Kousal, B., Moulin, A. P., Graff-Meyer, A., Roosing, S., Mahroo, O. A., Arno, G., Webster, A. R., Ben-Yosef, T., Liskova, P., Engel, B. D., Zobor, D., Quinodoz, M., & Rivolta, C. (2026). Loss-of-function variants in SAXO6, encoding a microtubule inner protein of photoreceptor cilia, cause a late-onset retinal dystrophy. The American Journal of Human Genetics. https://doi.org/10.1016/j.ajhg.2026.02.001

Source records

crossref · retrieved 2026-09-27T09:28:50.592Z