Zosia H. Miedzybrodzka

Aberdeen, SCT, United Kingdom

Last Updated: 09/26/2026

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Found 65 publications

Haematological presentation of sitosterolaemia.

Haematological presentation of sitosterolaemia.

Journal: BMJ case reports

Published: March 25, 2026

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

Journal: European journal of human genetics : EJHG

Published: December 22, 2025

Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.

Aspirin for cancer prevention in individuals with Lynch syndrome: first results from the CaPP3 multicentre, randomised, double-blind, non-inferiority trial.

Journal: The lancet. Gastroenterology & hepatology

Published: December 16, 2025

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

Journal: Health technology assessment (Winchester, England)

Published: December 08, 2025

Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders.

Routes to expanded carrier screening in the UK: The perspectives of professional stakeholders.

Journal: Journal of community genetics

Published: August 01, 2025

Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.

Challenges in evaluating whole genome sequencing for newborn screening: series of systematic reviews and roadmap for evidence generation for policy advisers.

Journal: BMJ medicine

Published: June 03, 2025

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Journal: European journal of human genetics : EJHG

Published: April 02, 2025

Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE.

Distribution of age at natural menopause, age at menarche, menstrual cycle length, height and BMI in BRCA1 and BRCA2 pathogenic variant carriers and non-carriers: results from EMBRACE.

Journal: Breast cancer research : BCR

Published: February 05, 2025

Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.

Beyond the Diagnosis: Valuing Genome-Wide Sequencing for Rare Disease Diagnosis Using Contingent Valuation.

Journal: Applied health economics and health policy

Published: January 19, 2025

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results.

Journal: American journal of human genetics

Published: November 01, 2024

Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review.

Methods applied to neonatal dried blood spot samples for secondary research purposes: a scoping review.

Journal: Critical reviews in clinical laboratory sciences

Published: June 10, 2024

Immune microenvironment modulation following neoadjuvant therapy for oesophageal adenocarcinoma: a translational analysis of the DEBIOC clinical trial.

Immune microenvironment modulation following neoadjuvant therapy for oesophageal adenocarcinoma: a translational analysis of the DEBIOC clinical trial.

Journal: ESMO open

Published: May 23, 2024

Showing 1-12 of 65

Last Updated: 09/26/2026