Publications — Radcliffe Department of Medicine

Cookies on this website

We use cookies to ensure that we give you the best experience on our website. If you click 'Accept all cookies' we'll assume that you are happy to receive all cookies and you won't see this message again. If you click 'Reject all non-essential cookies' only necessary cookies providing core functionality such as security, network management, and accessibility will be enabled. Click 'Find out more' for information on how to change your cookie settings.

A calibrated functional patch-clamp assay to enhance clinical variant interpretation in KCNH2-related long QT syndrome.

Jiang C. et al, (2022), Am J Hum Genet

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

Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy.

Waring A. et al, (2021), J Med Genet, 58, 556 - 564

Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel

Morales A. et al, (2021), Journal of Molecular Diagnostics, 23, 589 - 598

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

Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification.

Stafford F. et al, (2021), Curr Cardiol Rep, 23

Secondary findings in inherited heart conditions: a genotype-first feasibility study to assess phenotype, behavioural and psychosocial outcomes.

Ormondroyd E. et al, (2020), Eur J Hum Genet, 28, 1486 - 1496

Publisher Correction: Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED. et al, (2020), Nature, 584

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Thaventhiran JED. et al, (2020), Nature, 583, 90 - 95

Whole-genome sequencing of patients with rare diseases in a national health system.

Turro E. et al, (2020), Nature, 583, 96 - 102

An assessment of the role of vinculin (VCL) loss of function variants in inherited cardiomyopathy.

Hawley MH. et al, (2020), Hum Mutat

Reevaluation of the South Asian MYBPC3Δ25bp Intronic Deletion in Hypertrophic Cardiomyopathy.

Harper AR. et al, (2020), Circ Genom Precis Med, 13

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F. et al, (2020), Circulation, 141, 387 - 398

Genetic Testing in Inherited Heart Diseases.

Ingles J. et al, (2019), Heart Lung Circ

Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.

Neubauer S. et al, (2019), J Am Coll Cardiol, 74, 2333 - 2345

Do health professionals value genomic testing? A discrete choice experiment in inherited cardiovascular disease.

Buchanan J. et al, (2019), Eur J Hum Genet, 27, 1639 - 1648

Data-driven modelling of mutational hotspots and in-silico predictors in hypertrophic cardiomyopathy

Waring AJ. et al, (2019)

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases

Walsh R. et al, (2019), EUROPEAN JOURNAL OF HUMAN GENETICS, 27, 1720 - 1720

Implementation of a genomic medicine multi-disciplinary team approach for rare disease in the clinical setting: a prospective exome sequencing case series.

Taylor J. et al, (2019), Genome Med, 11

Load More

Include forthcoming?