Publications by authors named "Ofek Freund"

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Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.
Nadav Agam, Ohad Wormser, Ari Biller, Noam Hadar, Vadim Dolgin, Ofek Freund

Am J Kidney Dis· December 2025

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A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.
Matan M Jean, Anan Yunis, Tzofit Elbaz-Biton, Vadim Dolgin, Ginat Narkis, Ofek Freund

NPJ Genom Med· October 2025

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Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.
Tomer Poleg, Noam Hadar, Eyal Kristal, Nicola Y Roberts, Vadim Dolgin, Ofek Freund

Mov Disord· September 2025

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Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.
Nadav Agam, Vadim Dolgin, Artyom Star, Ofek Freund, Matan M Jean

Can J Cardiol· May 2025

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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, Ofek Freund

Clin Genet· March 2025

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Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.
Tomer Poleg, Noam Hadar, Gali Heimer, Vadim Dolgin, Ilana Aminov, Ofek Freund

NPJ Genom Med· March 2025

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VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.
Noam Hadar, Vadim Dolgin, Katya Oustinov, Yuval Yogev, Tomer Poleg, Ofek Freund

Hum Genet· May 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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Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.
Tomer Poleg, Marina Eskin-Schwartz, Regina Proskorovski-Ohayon, Ilana Aminov, Vadim Dolgin, Ofek Freund

J Cardiovasc Transl Res· December 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

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, Ofek Freund

NPJ Genom Med· August 2023

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Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Amit Safran, Regina Proskorovski-Ohayon, Marina Eskin-Schwartz, Yuval Yogev, Max Drabkin, Ofek Freund

J Inherit Metab Dis· July 2023

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