Ohad Wormser

Beersheba, D 84101, Israel

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 33 publications

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.

A Novel Variant in an Israeli Bedouin Family: The First Reported Cases of Carbonic Anhydrase VA (CA5A) Deficiency in Israel.

Journal: Genes

Published: February 13, 2026

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Monogenic Kidney Diseases in Children - Five Years of Experience from a Dedicated Nephrogenetic Clinic in Southern Israel

Journal: Harefuah

Published: December 25, 2025

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

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Severe neonatal hypotonia due to SLC30A5 variant affecting function of ZnT5 zinc transporter.

Journal: JIMD reports

Published: November 09, 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

A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.

A role of BPTF in viral oncogenicity delineated through studies of heritable Kaposi sarcoma.

Journal: Journal of medical virology

Published: May 24, 2023

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.

SMARCA4 mutation causes human otosclerosis and a similar phenotype in mice.

Journal: Journal of medical genetics

Published: March 08, 2023

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.

Limb girdle muscular disease caused by HMGCR mutation and statin myopathy treatable with mevalonolactone.

Journal: Proceedings of the National Academy of Sciences of the United States of America

Published: February 06, 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

Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.

Transcript-Based Diagnosis and Expanded Phenotype of an Intronic Mutation in TPM3 Myopathy.

Journal: Molecular diagnosis & therapy

Published: May 29, 2022

PSMC1 variant causes a novel neurological syndrome.

PSMC1 variant causes a novel neurological syndrome.

Journal: Clinical genetics

Published: April 28, 2022

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.

A syndrome of severe intellectual disability, hypotonia, failure to thrive, dysmorphism, and thinning of corpus callosum maps to chromosome 7q21.13-q21.3.

Journal: Clinical genetics

Published: December 27, 2021

Showing 1-12 of 33

Last Updated: 09/26/2026