Publications by authors named "Amit Safran"

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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, Amit Safran

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, Amit Safran

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, Amit Safran

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, Amit Safran

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

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, Amit Safran

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, Amit Safran

Hum Genet· May 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, Amit Safran

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

J Inherit Metab Dis· July 2023

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STRavinsky STR database and PGTailor PGT tool demonstrate superiority of CHM13-T2T over hg38 and hg19 for STR-based applications.
Noam Hadar, Ginat Narkis, Shirly Amar, Marina Varnavsky, Glenda Calniquer Palti, Amit Safran

Eur J Hum Genet· July 2023

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