Gabriel A. Lidzbarsky

Petah Tiqwa, M, Israel

Last Updated: 09/26/2026

Save publications for later

Sign Up

Not sure about your diagnosis?

Check Your Symptoms

Found 24 publications

A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent.

A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent.

Journal: Journal of neuromuscular diseases

Published: February 20, 2025

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.

Potentially Missed Diagnoses in Prenatal Versus Postnatal Exome Sequencing in the Lack of Informative Phenotype: Lessons Learned From a Postnatal Cohort.

Journal: Prenatal diagnosis

Published: May 07, 2024

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

High frequency of MEFV disease-causing variants in children with very-early-onset inflammatory bowel disease.

Journal: Pediatric research

Published: October 03, 2023

Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.

Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes With Hearing Loss as the Primary Presentation, Responsive to Anti-Interleukin-1 Therapy.

Journal: Arthritis & rheumatology (Hoboken, N.J.)

Published: May 11, 2023

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.

A novel SLC25A13 gene splice site variant causes Citrin deficiency in an infant.

Journal: Gene

Published: March 12, 2023

Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.

Possible biallelic inheritance in TIE1 in a family with congenital lymphedema, intestinal lymphangiectasia and cutis aplasia.

Journal: Clinical genetics

Published: November 21, 2022

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.

Clinically actionable incidental and secondary parental genomic findings after proband exome sequencing: Yield and dilemmas.

Journal: Genetics in medicine open

Published: November 19, 2022

Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.

Di-genic inheritance of germline POLE and PMS2 pathogenic variants causes a unique condition associated with pediatric cancer predisposition.

Journal: Clinical genetics

Published: October 16, 2021

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.

The prevalence of prenatal sonographic findings in postnatal diagnostic exome sequencing performed for neurocognitive phenotypes: A cohort study.

Journal: Prenatal diagnosis

Published: August 22, 2021

Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.

Microdeletion of 16q24.1-q24.2-A unique etiology of Lymphedema-Distichiasis syndrome and neurodevelopmental disorder.

Journal: American journal of medical genetics. Part A

Published: April 01, 2021

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.

A nonsense variant in the second exon of the canonical transcript of NSD1 does not cause Sotos syndrome.

Journal: American journal of medical genetics. Part A

Published: February 15, 2021

Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Re-evaluating the pathogenicity of the c.783+2T>C BAP1 germline variant.

Journal: Human mutation

Published: December 07, 2020

Showing 1-12 of 24

Last Updated: 09/26/2026