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BMC Medical Genetics|August 1, 2016
Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindredLibe Gradstein, Jenny Zolotushko, Yuri V Sergeev, et al.
European Journal of Human Genetics : EJHG|May 1, 2018
Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli populationMor Hanany, Gilad Allon, Adva Kimchi, et al.
Clinical Genetics|April 20, 2022
A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3Daniel Halperin, Nadav Agam, Maher Hallak, et al.
Human Molecular Genetics|September 12, 2015
CDC174, a novel component of the exon junction complex whose mutation underlies a syndrome of hypotonia and psychomotor developmental delayMichael Volodarsky, Hava Lichtig, Tom Leibson, et al.
Clinical Genetics|November 25, 2024
Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic ExpansionTomer Poleg, Regina Proskorovski-Ohayon, Vadim Dolgin, et al.
Human Mutation|October 17, 2006
A new genetic isolate with a unique phenotype of syndromic oculocutaneous albinism: clinical, molecular, and cellular characteristicsNira Schreyer-Shafir, Marjan Huizing, Yair Anikster, et al.
American Journal of Human Genetics|September 3, 2011
High myopia caused by a mutation in LEPREL1, encoding prolyl 3-hydroxylase 2Shikma Mordechai, Libe Gradstein, Annika Pasanen, et al.
Human Genome Variation|May 16, 2020
Mutations in <i>CERKL</i> and <i>RP1</i> cause retinitis pigmentosa in Pakistani familiesRaheela Nadeem, Firoz Kabir, Jiali Li, et al.
American Journal of Medical Genetics. Part A|December 5, 2018
Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribeOhad Wormser, Libe Gradstein, Einat Kadar, et al.
Harefuah|February 20, 2019
[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES]Dror Sharon, Tamar Ben-Yosef, Eran Pras, et al.
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