Helen J. Byers

Manchester, ENG M139PL, United Kingdom

Last Updated: 09/26/2026

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Found 41 publications

PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups.

PRANA: A Deep Learning Method for Adapting Polygenic Risk Scores to Diverse Ethnic Groups.

Journal: medRxiv : the preprint server for health sciences

Published: July 29, 2026

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Bi-allelic missense variants in human GPN2 result in Perrault syndrome.

Journal: American journal of human genetics

Published: March 27, 2026

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

RNA splicing evidence enables robust classification of BRCA1 exon 18 variants: Results from the ENIGMA consortium.

Journal: American journal of human genetics

Published: February 19, 2026

Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women.

Threshold-Based Overlap of Breast Cancer High-Risk Classification Using Family History, Polygenic Risk Scores, and Traditional Risk Models in 180,398 Women.

Journal: Cancers

Published: September 09, 2025

Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.

Overlap of high-risk individuals across family history, genetic & non-genetic breast cancer risk models: Analysis of 180,398 women from European & Asian ancestries.

Journal: medRxiv : the preprint server for health sciences

Published: March 17, 2025

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series.

Journal: The Lancet. Neurology

Published: January 07, 2025

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.

Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.

Journal: American journal of human genetics

Published: March 29, 2024

Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent.

Breast cancer polygenic risk scores derived in White European populations are not calibrated for women of Ashkenazi Jewish descent.

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

Published: August 31, 2023

Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.

Evaluation of European-based polygenic risk score for breast cancer in Ashkenazi Jewish women in Israel.

Journal: Journal of medical genetics

Published: January 26, 2023

Validation of lung cancer polygenic risk scores in a high-risk case-control cohort.

Validation of lung cancer polygenic risk scores in a high-risk case-control cohort.

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

Published: December 21, 2022

Estimating the Cost of 3 Risk Prediction Strategies for Potential Use in the United Kingdom National Breast Screening Program.

Estimating the Cost of 3 Risk Prediction Strategies for Potential Use in the United Kingdom National Breast Screening Program.

Journal: MDM policy & practice

Published: November 08, 2022

Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.

Differential involvement of germline pathogenic variants in breast cancer genes between DCIS and low-grade invasive cancers.

Journal: Journal of medical genetics

Published: June 28, 2022

Showing 1-12 of 41

Last Updated: 09/26/2026