Publications by authors named "Matan M Jean"

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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, Matan M Jean

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

NPJ Genom Med· October 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, Matan M Jean

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, Matan M Jean

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, Matan M Jean

Hum Genet· May 2024

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A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.
Yuval Yogev, Moshe Schaffer, Mark Shlapobersky, Matan M Jean, Ohad Wormser

J Med Virol· February 2024

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mutation causes human otosclerosis and a similar phenotype in mice.
Max Drabkin, Matan M Jean, Yael Noy, Daniel Halperin, Yuval Yogev

J Med Genet· January 2024

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

J Inherit Metab Dis· July 2023

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