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Hypertrophic Cardiomyopathy: Genetic Testing and Risk Stratification.

Journal article

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

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Journal article

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

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

Journal article

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

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

Journal article

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

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Journal article

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

Genetic Testing in Inherited Heart Diseases.

Journal article

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

Distinct Subgroups in Hypertrophic Cardiomyopathy in the NHLBI HCM Registry.

Journal article

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

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

Conference paper

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

Germline selection shapes human mitochondrial DNA diversity.

Journal article

Wei W. et al, (2019), Science, 364

RE-EVALUATING THE GENETIC CONTRIBUTION OF MONOGENIC DILATED CARDIOMYOPATHY

Conference paper

Mazzarotto F. et al, (2019), HEART, 105, A100 - A100

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