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Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).
Haer-Wigman L, Newman H, Leibu R, Bax NM, Baris HN, Rizel L, Banin E, Massarweh A, Roosing S, Lefeber DJ, Zonneveld-Vrieling MN, Isakov O, Shomron N, Sharon D, Den Hollander AI, Hoyng CB, Cremers FP, Ben-Yosef T. Haer-Wigman L, et al. Among authors: leibu r. Hum Mol Genet. 2015 Jul 1;24(13):3742-51. doi: 10.1093/hmg/ddv118. Epub 2015 Apr 9. Hum Mol Genet. 2015. PMID: 25859010 Free PMC article.
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).
Sharon D, Ben-Yosef T, Goldenberg-Cohen N, Pras E, Gradstein L, Soudry S, Mezer E, Zur D, Abbasi AH, Zeitz C, Cremers FPM, Khan MI, Levy J, Rotenstreich Y, Birk OS, Ehrenberg M, Leibu R, Newman H, Shomron N, Banin E, Perlman I. Sharon D, et al. Among authors: leibu r. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
Genetic causes of inherited retinal diseases among Israeli Jews of Ethiopian ancestry.
Ben Yosef T, Banin E, Chervinsky E, Shalev SA, Leibu R, Mezer E, Rotenstreich Y, Goldenberg-Cohen N, Weiss S, Khan MI, Panneman DM, Hitti-Malin RJ, Weiner C, Roosing S, Cremers FPM, Pras E, Zur D, Newman H, Deitch I, Sharon D, Ehrenberg M. Ben Yosef T, et al. Among authors: leibu r. Mol Vis. 2023 Apr 22;29:1-12. eCollection 2023. Mol Vis. 2023. PMID: 37287645 Free PMC article.
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Beryozkin A, Sher I, Ehrenberg M, Zur D, Newman H, Gradstein L, Simaan F, Rotenstreich Y, Goldenberg-Cohen N, Bahar I, Blumenfeld A, Rivera A, Rosin B, Deitch-Harel I, Perlman I, Mechoulam H, Chowers I, Leibu R, Ben-Yosef T, Pras E, Banin E, Sharon D, Khateb S. Beryozkin A, et al. Among authors: leibu r. Invest Ophthalmol Vis Sci. 2024 Feb 1;65(2):39. doi: 10.1167/iovs.65.2.39. Invest Ophthalmol Vis Sci. 2024. PMID: 38411968 Free PMC article.
33 results