Personal profile
Expertise related to UN Sustainable Development Goals
In 2015, UN member states agreed to 17 global Sustainable Development Goals (SDGs) to end poverty, protect the planet and ensure prosperity for all. This person’s work contributes towards the following SDG(s):
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SDG 3 Good Health and Well-being
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Collaborations and top research areas from the last five years
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Biallelic null variants in C19orf44 cause a unique late-onset retinal dystrophy phenotype characterized by patchy perifoveal chorioretinal atrophy
Ehrenberg, M., Avraham, M., Asodu, S. S., Moye, A. R., Sangermano, R., Rizel, L., Ali-Nasser, T., Sher, I., Gurwitz, D., Chao, K. R., Rivera, A., Webster, A. R., Rivolta, C., Newman, H., Pras, E., Rotenstreich, Y., Banin, E., Pierce, E. A., Zur, D. & Arno, G. & 4 others, , Jun 2025, In: Genetics in Medicine. 27, 6, 101401.Tel Aviv University, The Hebrew University of Jerusalem, Technion - Israel Institute of Technology
Research output: Contribution to journal › Article › peer-review
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Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Kaminska, K., Cancellieri, F., Quinodoz, M., Moye, A. R., Bauwens, M., Lin, S., Janeschitz-Kriegl, L., Hayman, T., Barberán-Martínez, P., Schlaeger, R., Van den Broeck, F., Ávila Fernández, A., Fernández-Caballero, L., Perea-Romero, I., García-García, G., Salom, D., Mazzola, P., Zuleger, T., Poths, K. & Haack, T. B. & 36 others, , 3 Apr 2025, In: American Journal of Human Genetics. 112, 4, p. 808-828 21 p.Technion - Israel Institute of Technology, The Hebrew University of Jerusalem
Research output: Contribution to journal › Article › peer-review
Open Access -
Characterising the refractive error in paediatric patients with congenital stationary night blindness: A multicentre study
Igelman, A. D., White, E., Tayyib, A., Everett, L., Vincent, A., Heon, E., Zeitz, C., Michaelides, M., Mahroo, O. A., Katta, M., Webster, A., Preising, M., Lorenz, B., Khateb, S., Banin, E., Sharon, D., Luski, S., Van Den Broeck, F., Leroy, B. P. & De Baere, E. & 37 others, , 28 Jan 2025, In: British Journal of Ophthalmology. 109, 2, p. 286-292 7 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Characterizing the Genetic Basis for Inherited Retinal Disease: Lessons Learned From the Foundation Fighting Blindness Clinical Consortium’s Gene Poll
the Foundation Fighting Blindness Clinical Consortium Investigator Group, Feb 2025, In: Investigative Ophthalmology and Visual Science. 66, 2, 12.The Hebrew University of Jerusalem
Research output: Contribution to journal › Article › peer-review
Open Access -
Non-coding single-nucleotide and structural variants affecting the EYS putative promoter cause autosomal recessive retinitis pigmentosa
Hayman, T., Ovadia, S., Krishnan, J., Bouckaert, M., Panneman, D. M., English, M., Valensi, J., Cremers, F. P. M., Ben Yosef, T., van den Born, L. I., de Bruijn, S. E., Roosing, S., Banin, E., Khateb, S., Ashery-Padan, R., Coppieters, F., Swaroop, A. & Sharon, D., Jul 2025, In: Genetics in Medicine. 27, 7, 101427.The Hebrew University of Jerusalem, Technion - Israel Institute of Technology, Tel Aviv University
Research output: Contribution to journal › Article › peer-review
Open Access