Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population

Pam A.T. Heutinck, Adriana I. Iglesias, Dariush D. Farhud, Marianne van Tienhoven, Atiyeh Khoshraftar, Marjan Zarif-Yeganeh, Sima Kheradmand Kia, Mohsen Ghanbari, Magda A. Smoor, Caroline C.W. Klaver, Lies H. Hoefsloot, Alberta A.H.J. Thiadens, Virginie J.M. Verhoeven

Open source

DOI
10.1038/s41598-025-08272-z
Published
2025-07-03
Container
Scientific Reports
Publisher
Springer Science and Business Media LLC
Open access
unknown

Credibility signals

uncertain Score 64/100 under policy 1.0.0. This is a metadata assessment, not a judgment of the paper's conclusions.

Show all credibility signals

Cite this work

BibTeX

@article{allodium:10.1038/s41598-025-08272-z,
  title = {Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population},
  author = {Pam A.T. Heutinck and Adriana I. Iglesias and Dariush D. Farhud and Marianne van Tienhoven and Atiyeh Khoshraftar and Marjan Zarif-Yeganeh and Sima Kheradmand Kia and Mohsen Ghanbari and Magda A. Smoor and Caroline C.W. Klaver and Lies H. Hoefsloot and Alberta A.H.J. Thiadens and Virginie J.M. Verhoeven},
  year = {2025},
  journal = {Scientific Reports},
  doi = {10.1038/s41598-025-08272-z},
  url = {https://doi.org/10.1038/s41598-025-08272-z}
}

RIS

TY  - JOUR
TI  - Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population
AU  - Pam A.T. Heutinck
AU  - Adriana I. Iglesias
AU  - Dariush D. Farhud
AU  - Marianne van Tienhoven
AU  - Atiyeh Khoshraftar
AU  - Marjan Zarif-Yeganeh
AU  - Sima Kheradmand Kia
AU  - Mohsen Ghanbari
AU  - Magda A. Smoor
AU  - Caroline C.W. Klaver
AU  - Lies H. Hoefsloot
AU  - Alberta A.H.J. Thiadens
AU  - Virginie J.M. Verhoeven
PY  - 2025
JO  - Scientific Reports
DO  - 10.1038/s41598-025-08272-z
UR  - https://doi.org/10.1038/s41598-025-08272-z
ER  - 

APA

Heutinck, P. A., Iglesias, A. I., Farhud, D. D., Tienhoven, M. V., Khoshraftar, A., Zarif-Yeganeh, M., Kia, S. K., Ghanbari, M., Smoor, M. A., Klaver, C. C., Hoefsloot, L. H., Thiadens, A. A., & Verhoeven, V. J. (2025). Diagnostic whole exome sequencing in presumably autosomal recessive inherited retinal dystrophies in an Iranian population. Scientific Reports. https://doi.org/10.1038/s41598-025-08272-z

Source records