Zosia Miedzybrodzka

11PUBLICATIONS
98CO-AUTHORS
Gene mappingGene expression (incl. microarray and other genome-wide approaches)Cardiology (incl. cardiovascular diseases)Respiratory diseasesCancer genetics
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Journal

Publications (11)

|Aug 05, 2026
Detecting pathogenic structural variation in families with undiagnosed rare disease in a national genome project.

|Dec 08, 2025
Evaluating whole genome sequencing for rare diseases in newborn screening: evidence synthesis from a series of systematic reviews.

Karoline Freeman, Jacqueline Dinnes, Bethany Shinkins

|Aug 12, 2025
Non-isolated tetralogy of fallot (TOF+): exome sequencing efficacy and phenotypic expansions.

Julia Volpi, Xiaonan Zhao, Nichole Owen

|Oct 22, 2024
Two founder variants account for over 90% of pathogenic BRCA alleles in the Orkney and Shetland Isles in Scotland.

Shona M Kerr, Lucija Klaric, Marisa D Muckian

|Apr 16, 2024
Outcomes of patients with Juvenile Polyposis-Hereditary Haemorrhagic Telangiectasia caused by pathogenic SMAD4 variants in a pan-Scotland cohort.

Madeline Pearson, Ruth McGowan, Philip Greene

|Nov 04, 2023
Alternative cascade-testing protocols for identifying and managing patients with familial hypercholesterolaemia: systematic reviews, qualitative study and cost-effectiveness analysis.

Nadeem Qureshi, Bethan Woods, Rita Neves de Faria

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Frequent Collaborators

2 joint publications

Shona M Kerr

2 joint publications

James F Wilson

2 joint publications

Emma Cowan

2 joint publications

Timothy J Aitman