Publications by authors named "Libe Gradstein"

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Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.
Tomer Poleg, Regina Proskorovski-Ohayon, Vadim Dolgin, Noam Hadar, Amit Safran, Libe Gradstein

Clin Genet· March 2025

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Nationwide Prevalence of Inherited Retinal Diseases in the Israeli Population.
Sapir Shalom, Tamar Ben-Yosef, Ifat Sher, Amir Zag, Ygal Rotenstreich, Libe Gradstein

JAMA Ophthalmol· July 2024

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Best Disease: Global Mutations Review, Genotype-Phenotype Correlation, and Prevalence Analysis in the Israeli Population.
Avigail Beryozkin, Ifat Sher, Miriam Ehrenberg, Dinah Zur, Hadas Newman, Libe Gradstein

Invest Ophthalmol Vis Sci· February 2024

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Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.
Anat Bahat Dinur, Ortal Buchbut, Libe Gradstein, Baker Elsana, Ofek Freund

Rambam Maimonides Med J· January 2024

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De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.
Maya Gombosh, Yuval Yogev, Noam Hadar, Regina Proskorovski-Ohayon, Sarit Aharoni, Libe Gradstein

Clin Genet· November 2023

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Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.
Ofek Freund, Baker Elsana, Nadav Agam, Matan M Jean, Amit Safran, Libe Gradstein

Am J Med Genet A· November 2023

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IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.
Ohad Wormser, Yonatan Perez, Vadim Dolgin, Bahman Kamali, Jared A Tangeman, Libe Gradstein

NPJ Genom Med· August 2023

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Ocular manifestations among patients with congenital insensitivity to pain due to variants in PRDM12 and SCN9A genes.
Baker Elsana, Ahed Imtirat, Ronit Yagev, Libe Gradstein, Pierre Majdalani

Am J Med Genet A· December 2022

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PSMC1 variant causes a novel neurological syndrome.
Sarit Aharoni, Regina Proskorovski-Ohayon, Ramesh Kumar Krishnan, Yuval Yogev, Ohad Wormser, Libe Gradstein

Clin Genet· October 2022

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Ocular manifestations of congenital insensitivity to pain: a long-term follow-up.
Baker Elsana, Libe Gradstein, Ahed Imtirat, Ronit Yagev, Chiya Barrett

Br J Ophthalmol· September 2022

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A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.
Daniel Halperin, Nadav Agam, Maher Hallak, Miora Feinstein, Max Drabkin, Libe Gradstein

Clin Genet· August 2022

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The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Charlotte C Kruijt, Libe Gradstein, Arthur A Bergen, Ralph J Florijn, Benoit Arveiler

Invest Ophthalmol Vis Sci· January 2022

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Pituitary stalk interruption syndrome broadens the clinical spectrum of the TTC26 ciliopathy.
Odeya David, Marina Eskin-Schwartz, Galina Ling, Vadim Dolgin, Eyal Kristal, Libe Gradstein

Clin Genet· September 2020

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Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.
Daniel Halperin, Max Drabkin, Ohad Wormser, Yuval Yogev, Vadim Dolgin, Libe Gradstein

Am J Med Genet A· June 2020

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Mutations in and cause retinitis pigmentosa in Pakistani families.
Raheela Nadeem, Firoz Kabir, Jiali Li, Libe Gradstein, Xiaodong Jiao

Hum Genome Var· May 2020

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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, Eran Pras, Libe Gradstein

Hum Mutat· January 2020

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SCAPER localizes to primary cilia and its mutation affects cilia length, causing Bardet-Biedl syndrome.
Ohad Wormser, Libe Gradstein, Yuval Yogev, Yonatan Perez, Rotem Kadir

Eur J Hum Genet· June 2019

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mutation affects ER homeostasis, causing a neurological syndrome.
Daniel Halperin, Rotem Kadir, Yonatan Perez, Max Drabkin, Yuval Yogev, Libe Gradstein

J Med Genet· March 2019

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[THE ISRAELI INHERITED RETINAL DISEASES CONSORTIUM (IIRDC)- CLINICAL-GENETIC MAPPING AND FUTURE PERSPECTIVES].
Dror Sharon, Tamar Ben-Yosef, Eran Pras, Nitza Goldenberg-Cohen, Libe Gradstein

Harefuah· February 2019

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Combined CNV, haplotyping and whole exome sequencing enable identification of two distinct novel EYS mutations causing RP in a single inbred tribe.
Ohad Wormser, Libe Gradstein, Einat Kadar, Yuval Yogev, Yonatan Perez

Am J Med Genet A· December 2018

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Carrier frequency analysis of mutations causing autosomal-recessive-inherited retinal diseases in the Israeli population.
Mor Hanany, Gilad Allon, Adva Kimchi, Anat Blumenfeld, Hadas Newman, Libe Gradstein

Eur J Hum Genet· August 2018

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Progressive retinal degeneration in a girl with Knobloch syndrome who presented with signs of ocular albinism.
Libe Gradstein, Ronald M Hansen, Gerald F Cox, Pablo Altschwager, Anne B Fulton

Doc Ophthalmol· April 2017

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SLC30A9 mutation affecting intracellular zinc homeostasis causes a novel cerebro-renal syndrome.
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Libe Gradstein

Brain· April 2017

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Novel GUCY2D mutation causes phenotypic variability of Leber congenital amaurosis in a large kindred.
Libe Gradstein, Jenny Zolotushko, Yuri V Sergeev, Itay Lavy, Ginat Narkis

BMC Med Genet· July 2016

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Genetic Analysis of the Rhodopsin Gene Identifies a Mosaic Dominant Retinitis Pigmentosa Mutation in a Healthy Individual.
Avigail Beryozkin, Gal Levy, Anat Blumenfeld, Segev Meyer, Prasanthi Namburi, Libe Gradstein

Invest Ophthalmol Vis Sci· March 2016

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