Nurit Magal

Petah Tiqwa, M 49414, Israel

Last Updated: 09/26/2026

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Found 19 publications

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

The Diagnostic Yield and Implications of Targeted Founder Pathogenic Variant Testing in an Israeli Cohort.

Journal: Cancers

Published: November 10, 2023

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Bi-allelic variants in INTS11 are associated with a complex neurological disorder.

Journal: American journal of human genetics

Published: January 05, 2023

Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.

Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.

Journal: Clinical genetics

Published: December 08, 2021

Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.

Biallelic truncating variants in the muscular A-type lamin-interacting protein (MLIP) gene cause myopathy with hyperCKemia.

Journal: European journal of neurology

Published: September 04, 2021

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

DYRK1B haploinsufficiency in a family with metabolic syndrome and abnormal cognition.

Journal: Clinical genetics

Published: August 23, 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

The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting.

The diagnostic efficacy of exome data analysis using fixed neurodevelopmental gene lists: Implications for prenatal setting.

Journal: Prenatal diagnosis

Published: November 07, 2020

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.

When phenotype does not match genotype: importance of "real-time" refining of phenotypic information for exome data interpretation.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 08, 2020

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

Teaching clinicians practical genomic medicine: 7 years' experience in a tertiary care center.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: March 01, 2020

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.

The yield of full BRCA1/2 genotyping in Israeli Arab high-risk breast/ovarian cancer patients.

Journal: Breast cancer research and treatment

Published: May 22, 2019

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: July 26, 2018

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.

The yield of full BRCA1/2 genotyping in Israeli high-risk breast/ovarian cancer patients who do not carry the predominant mutations.

Journal: Breast cancer research and treatment

Published: May 25, 2018

Showing 1-12 of 19

Last Updated: 09/26/2026