Hila Fridman

The Eisenberg R&D Authority
Jerusalem, JM 91031, Israel

Last Updated: 09/26/2026

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Found 10 publications

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

TP53 missense allele predisposing to high risk of breast cancer but not pediatric cancers.

Journal: Journal of the National Cancer Institute

Published: July 30, 2024

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.

Reproductive and cognitive phenotypes in carriers of recessive pathogenic variants.

Journal: Nature human behaviour

Published: December 04, 2023

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Genome-wide data from medieval German Jews show that the Ashkenazi founder event pre-dated the 14th century.

Journal: Cell

Published: May 08, 2022

Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Performance comparison: exome sequencing as a single test replacing Sanger sequencing.

Journal: Molecular genetics and genomics : MGG

Published: December 02, 2020

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.

The landscape of autosomal-recessive pathogenic variants in European populations reveals phenotype-specific effects.

Journal: American journal of human genetics

Published: November 27, 2020

Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

Correction: Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

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

Published: December 20, 2019

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.

Preconception carrier screening yield: effect of variants of unknown significance in partners of carriers with clinically significant variants.

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

Published: May 20, 2019

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

Population screening for BRCA1/BRCA2 founder mutations in Ashkenazi Jews: proactive recruitment compared with self-referral.

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

Published: June 20, 2016

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.

Journal: Neurology

Published: December 12, 2015

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.

A novel severe N-terminal splice site KISS1R gene mutation causes hypogonadotropic hypogonadism but enables a normal development of neonatal external genitalia.

Journal: European journal of endocrinology

Published: May 24, 2012

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Last Updated: 09/26/2026