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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: soudry s. Hum Mutat. 2020 Jan;41(1):140-149. doi: 10.1002/humu.23903. Epub 2019 Sep 15. Hum Mutat. 2020. PMID: 31456290
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity.
Kurolap A, Kreuder F, Gonzaga-Jauregui C, Duvdevani MP, Harel T, Tammer L, Xin B, Bakhtiari S, Rice J, van Eyk CL, Gecz J, Mah JK, Atkinson D, Cope H, Sullivan JA, Douek AM, Colquhoun D, Henry J, Wlodkowic D, Parman Y, Candayan A, Kocasoy-Orhan E, Ilivitzki A, Soudry S, Leibu R, Glaser F, Sency V; Undiagnosed Diseases Network; Ast G, Shashi V, Fahey MC, Battaloğlu E, Jordanova A, Meiner V, Innes AM, Wang H, Elpeleg O, Kruer MC, Kaslin J, Baris Feldman H. Kurolap A, et al. Among authors: soudry s. Am J Hum Genet. 2022 Mar 3;109(3):518-532. doi: 10.1016/j.ajhg.2022.01.004. Epub 2022 Feb 1. Am J Hum Genet. 2022. PMID: 35108495 Free PMC article.
Ocular Phenotype of a Family with FAM161A-associated Retinal Degeneration.
Duncan JL, Biswas P, Kozak I, Navani M, Syed R, Soudry S, Menghini M, Caruso RC, Jeffrey BG, Heckenlively JR, Reddy GB, Lee P, Roorda A, Ayyagari R. Duncan JL, et al. Among authors: soudry s. Ophthalmic Genet. 2016;37(1):44-52. doi: 10.3109/13816810.2014.929716. Epub 2014 Jul 9. Ophthalmic Genet. 2016. PMID: 25007332 Free PMC article.
Glaucoma Prediction Models Based on Ocular and Systemic Findings.
Landau Prat D, Kapelushnik N, Arazi M, Zloto O, Leshno A, Klang E, Sina S, Segev S, Soudry S, Ben Simon GJ. Landau Prat D, et al. Among authors: soudry s. Ophthalmic Res. 2024;67(1):29-38. doi: 10.1159/000535879. Epub 2023 Dec 18. Ophthalmic Res. 2024. PMID: 38109866 Free article.
12 results