Regina Ohayon-Proskorovski

Beersheba, D, Israel

Last Updated: 09/26/2026

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Found 12 publications

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

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.

Developmental dysplasia of the hip caused by homozygous TRIM33 pathogenic variant affecting downstream BMP pathway.

Journal: Journal of medical genetics
Published: February 10, 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

ZNF142 mutation causes sex-dependent neurologic disorder.

ZNF142 mutation causes sex-dependent neurologic disorder.

Journal: Journal of medical genetics
Published: June 22, 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

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

De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

De-novo "germline second hit" loss-of-heterozygosity RBP3 deletion mutation causing recessive high myopia.

Journal: Clinical genetics
Published: January 11, 2023

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

PSMC1 variant causes a novel neurological syndrome.

PSMC1 variant causes a novel neurological syndrome.

Journal: Clinical genetics
Published: April 28, 2022

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.

CDH2 mutation affecting N-cadherin function causes attention-deficit hyperactivity disorder in humans and mice.

Journal: Nature communications
Published: May 13, 2020

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

PAX7 mutation in a syndrome of failure to thrive, hypotonia, and global neurodevelopmental delay.

Journal: Human mutation
Published: May 09, 2017
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Last Updated: 09/26/2026