Ofek Freund

Beersheba, D, Israel

Last Updated: 09/26/2026

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Found 12 publications

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

Intronic and Coding Genetic Variants in Autosomal Recessive Polycystic Kidney Disease Among Israeli Bedouins of Arabian Peninsula Ancestry.

Journal: American journal of kidney diseases : the official journal of the National Kidney Foundation

Published: December 31, 2024

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Early-Onset Movement Disorder Syndrome Caused by Biallelic Variants in PDE1B Encoding Phosphodiesterase 1B.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: December 29, 2024

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

A ciliopathy combining Joubert syndrome and Oro-Facial-Digital syndrome caused by bi-allelic 5'-UTR loss-of-function CEP83 variant.

Journal: NPJ genomic medicine

Published: November 24, 2024

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Novel BRAT1 Deep Intronic Variant Affects Splicing Regulatory Elements Causing Cerebellar Hypoplasia Syndrome: Genotypic and Phenotypic Expansion.

Journal: Clinical genetics

Published: September 04, 2024

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Unraveling MECP2 structural variants in previously elusive Rett syndrome cases through IGV interpretation.

Journal: NPJ genomic medicine

Published: August 18, 2024

Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.

Mitral Valve Prolapse Caused by TLL1 Gain-of-Function Mutation.

Journal: The Canadian journal of cardiology

Published: August 17, 2024

Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.

Familial Occurrence of Isolated Late-onset Nasolacrimal Duct Obstruction in Two Unrelated Families.

Journal: Rambam Maimonides medical journal

Published: January 23, 2024

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19.

Journal: Human genetics

Published: October 30, 2023

Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.

Compound Heterozygosity for Late-Onset Cardiomyopathy-Causative ALPK3 Coding Variant and Novel Intronic Variant Cause Infantile Hypertrophic Cardiomyopathy.

Journal: Journal of cardiovascular translational research

Published: May 10, 2023

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

Partial penetrance and phenotypic variability of aplasia of lacrimal and salivary glands caused by a novel FGF10 donor splice-site mutation.

Journal: American journal of medical genetics. Part A

Published: April 12, 2023

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

IHH enhancer variant within neighboring NHEJ1 intron causes microphthalmia anophthalmia and coloboma.

Journal: NPJ genomic medicine

Published: October 13, 2022

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.

Journal: Journal of inherited metabolic disease

Published: May 04, 2022

Showing 1-12 of 12

Last Updated: 09/26/2026