Rachel Beeri

Jerusalem, JM, Israel

Last Updated: 09/26/2026

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Found 19 publications

Resolving Genomic Mysteries with Long-read Sequencing

Resolving Genomic Mysteries with Long-read Sequencing

Journal: Harefuah

Published: March 09, 2026

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

Discovering predisposing genes for hereditary breast cancer using deep learning.

Discovering predisposing genes for hereditary breast cancer using deep learning.

Journal: Briefings in bioinformatics

Published: January 16, 2024

Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.

Variant Tyr 394Ser in the GCM2 Gene Is Rare in a Cohort of Ashkenazi Jews With Primary Hyperparathyroidism.

Journal: Journal of the Endocrine Society

Published: March 28, 2023

Role of Thiopurines in Pediatric Inflammatory Bowel Diseases: A Real-Life Prospective Cohort Study.

Role of Thiopurines in Pediatric Inflammatory Bowel Diseases: A Real-Life Prospective Cohort Study.

Journal: Journal of pediatric gastroenterology and nutrition

Published: May 23, 2020

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.

A defect in GPI synthesis as a suggested mechanism for the role of ARV1 in intellectual disability and seizures.

Journal: Neurogenetics

Published: March 05, 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

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.

Variable Features of Juvenile Polyposis Syndrome With Gastric Involvement Among Patients With a Large Genomic Deletion of BMPR1A.

Journal: Clinical and translational gastroenterology

Published: July 02, 2019

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Mitochondrial PITRM1 peptidase loss-of-function in childhood cerebellar atrophy.

Journal: Journal of medical genetics

Published: February 12, 2018

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.

Features of Patients With Hereditary Mixed Polyposis Syndrome Caused by Duplication of GREM1 and Implications for Screening and Surveillance.

Journal: Gastroenterology

Published: December 12, 2016

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

Rac1 Polymorphisms and Thiopurine Efficacy in Children With Inflammatory Bowel Disease.

Rac1 Polymorphisms and Thiopurine Efficacy in Children With Inflammatory Bowel Disease.

Journal: Journal of pediatric gastroenterology and nutrition

Published: April 18, 2015

Showing 1-12 of 19

Last Updated: 09/26/2026