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Journal of Medical Genetics|November 23, 2018
SEC31A mutation affects ER homeostasis, causing a neurological syndromeDaniel Halperin, Rotem Kadir, Yonatan Perez, et al.
Clinical Genetics|July 21, 2022
PSMC1 variant causes a novel neurological syndromeSarit Aharoni, Regina Proskorovski-Ohayon, Ramesh Kumar Krishnan, et al.
Brain : a Journal of Neurology|March 24, 2017
SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndromeYonatan Perez, Zamir Shorer, Keren Liani-Leibson, et al.
NPJ Genomic Medicine|August 14, 2023
IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and colobomaOhad Wormser, Yonatan Perez, Vadim Dolgin, et al.
Investigative Ophthalmology & Visual Science|April 13, 2026
The Genetic Landscape of Inherited Retinal Diseases in the Israeli PopulationSapir Shalom, Libe Gradstein, Eran Pras, et al.
European Journal of Human Genetics : EJHG|February 7, 2019
SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndromeOhad Wormser, Libe Gradstein, Yuval Yogev, et al.
Investigative Ophthalmology & Visual Science|January 14, 2022
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and DifferencesCharlotte C Kruijt, Libe Gradstein, Arthur A Bergen, et al.
Human Mutation|August 29, 2019
A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC)Dror Sharon, Tamar Ben-Yosef, Nitza Goldenberg-Cohen, et al.
Investigative Ophthalmology & Visual Science|February 27, 2024
Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli PopulationAvigail Beryozkin, Ifat Sher, Miriam Ehrenberg, et al.
JAMA Ophthalmology|May 16, 2024
Nationwide Prevalence of Inherited Retinal Diseases in the Israeli PopulationSapir Shalom, Tamar Ben-Yosef, Ifat Sher, et al.
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