Publications — Radcliffe Department of Medicine

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Additional findings from the 100,000 Genomes Project: a qualitative study of recipient perspectives.

Nolan JJ. et al, (2024), Genet Med

Secondary (additional) findings from the 100,000 Genomes Project: disease manifestation, healthcare outcomes and costs of disclosure

Nolan J. et al, (2023), Genetics in Medicine

Structural and non-coding variants increase the diagnostic yield of clinical whole genome sequencing for rare diseases.

Pagnamenta AT. et al, (2023), Genome Med, 15

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA. et al, (2023), Am J Hum Genet, 110, 1482 - 1495

Direct-to-consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services.

Nolan JJ. and Ormondroyd E., (2023), Clin Genet

Direct‐to‐consumer genetic tests providing health risk information: A systematic review of consequences for consumers and health services

Nolan J. and ORMONDROYD E., (2023), Clinical Genetics: an international journal of genetics and molecular medicine

A practical checklist for return of results from genomic research in the European context

Vears DF. et al, (2023), European Journal of Human Genetics

Large scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy.

Tadros R. et al, (2023), medRxiv

Public and patient involvement in research to support genome services development in the UK

Hunter A. et al, (2023), Journal of Translational Genetics and Genomics, 7, 17 - 26

The Genetic Basis of Primary Cardiomyopathies in Childhood: Implications for Clinical Genetic Testing.

Thomson KL. and Ormondroyd E., (2022), Circ Genom Precis Med

Return of results from genomic research: a practical tool

Vears D. et al, (2022)

Right ventricular function declines prior to left ventricular ejection fraction in hypertrophic cardiomyopathy.

Mahmod M. et al, (2022), J Cardiovasc Magn Reson, 24

Genomic sequencing in oncology: Considerations for integration in routine cancer care

Rahman B. et al, (2022), European Journal of Cancer Care

Provocation Testing and Therapeutic Response in a Newly Described Channelopathy: RyR2 Calcium Release Deficiency Syndrome.

Ormerod JOM. et al, (2021), Circ Genom Precis Med

Maximal Wall Thickness Measurement in Hypertrophic Cardiomyopathy: Biomarker Variability and its Impact on Clinical Care.

Captur G. et al, (2021), JACC Cardiovasc Imaging, 14, 2123 - 2134

Genomic health data generation in the UK: a 360 view

Ormondroyd E. et al, (2021), European Journal of Human Genetics

Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study.

Raman B. et al, (2021), J Cardiovasc Magn Reson, 23

Bi-allelic MCM10 variants associated with immune dysfunction and cardiomyopathy cause telomere shortening.

Baxley RM. et al, (2021), Nat Commun, 12

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.

Harper AR. et al, (2021), Nat Genet, 53, 135 - 142

Common genetic variants and modifiable risk factors underpin hypertrophic cardiomyopathy susceptibility and expressivity.

Harper AR. et al, (2021), Nat Genet, 53, 135 - 142

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