Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa
- Author
- Tamar Hayman, Shai Ovadia, Jaya Krishnan, Manon Bouckaert (UGent) , Daan M. Panneman, Milton English, Johanna Valensi, Frans P.M. Cremers, Tamar Ben Yosef, L. Ingeborgh van den Born, Suzanne E. de Bruijn, Susanne Roosing, Eyal Banin, Samer Khateb, Ruth Ashery-Padan, Frauke Coppieters (UGent) , Anand Swaroop and Dror Sharon
- Organization
- Project
- Keywords
- Disease-causing variant, Photoreceptor, Regulatory element, Retinitis pigmentosa, Transcription factor, JOINT CONSENSUS RECOMMENDATION, CONE-ROD DYSTROPHY, MEDICAL GENETICS, AMERICAN-COLLEGE, MUTATIONS, GENES, IDENTIFICATION, EXPRESSION, STANDARDS, ORTHOLOG
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Citation
Please use this url to cite or link to this publication: http://hdl.handle.net/1854/LU-01K30HA61A8722VN0867NB7CW4
- MLA
- Hayman, Tamar, et al. “Non-Coding Single-Nucleotide and Structural Variants Affecting the EYS Putative Promoter Cause Autosomal Recessive Retinitis Pigmentosa.” GENETICS IN MEDICINE, vol. 27, no. 7, 2025, doi:10.1016/j.gim.2025.101427.
- APA
- Hayman, T., Ovadia, S., Krishnan, J., Bouckaert, M., Panneman, D. M., English, M., … Sharon, D. (2025). Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa. GENETICS IN MEDICINE, 27(7). https://doi.org/10.1016/j.gim.2025.101427
- Chicago author-date
- Hayman, Tamar, Shai Ovadia, Jaya Krishnan, Manon Bouckaert, Daan M. Panneman, Milton English, Johanna Valensi, et al. 2025. “Non-Coding Single-Nucleotide and Structural Variants Affecting the EYS Putative Promoter Cause Autosomal Recessive Retinitis Pigmentosa.” GENETICS IN MEDICINE 27 (7). https://doi.org/10.1016/j.gim.2025.101427.
- Chicago author-date (all authors)
- Hayman, Tamar, Shai Ovadia, Jaya Krishnan, Manon Bouckaert, Daan M. Panneman, Milton English, Johanna Valensi, Frans P.M. Cremers, Tamar Ben Yosef, L. Ingeborgh van den Born, Suzanne E. de Bruijn, Susanne Roosing, Eyal Banin, Samer Khateb, Ruth Ashery-Padan, Frauke Coppieters, Anand Swaroop, and Dror Sharon. 2025. “Non-Coding Single-Nucleotide and Structural Variants Affecting the EYS Putative Promoter Cause Autosomal Recessive Retinitis Pigmentosa.” GENETICS IN MEDICINE 27 (7). doi:10.1016/j.gim.2025.101427.
- Vancouver
- 1.Hayman T, Ovadia S, Krishnan J, Bouckaert M, Panneman DM, English M, et al. Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa. GENETICS IN MEDICINE. 2025;27(7).
- IEEE
- [1]T. Hayman et al., “Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa,” GENETICS IN MEDICINE, vol. 27, no. 7, 2025.
@article{01K30HA61A8722VN0867NB7CW4,
articleno = {{101427}},
author = {{Hayman, Tamar and Ovadia, Shai and Krishnan, Jaya and Bouckaert, Manon and Panneman, Daan M. and English, Milton and Valensi, Johanna and Cremers, Frans P.M. and Ben Yosef, Tamar and van den Born, L. Ingeborgh and de Bruijn, Suzanne E. and Roosing, Susanne and Banin, Eyal and Khateb, Samer and Ashery-Padan, Ruth and Coppieters, Frauke and Swaroop, Anand and Sharon, Dror}},
issn = {{1098-3600}},
journal = {{GENETICS IN MEDICINE}},
keywords = {{Disease-causing variant,Photoreceptor,Regulatory element,Retinitis pigmentosa,Transcription factor,JOINT CONSENSUS RECOMMENDATION,CONE-ROD DYSTROPHY,MEDICAL GENETICS,AMERICAN-COLLEGE,MUTATIONS,GENES,IDENTIFICATION,EXPRESSION,STANDARDS,ORTHOLOG}},
language = {{eng}},
number = {{7}},
pages = {{12}},
title = {{Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa}},
url = {{http://doi.org/10.1016/j.gim.2025.101427}},
volume = {{27}},
year = {{2025}},
}
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