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

Journal article

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

Whole-genome sequencing of a sporadic primary immunodeficiency cohort.

Journal article

Thaventhiran JED. et al, (2020), Nature

A Re-evaluation of the South Asian MYBPC3Δ25 Intronic Deletion in Hypertrophic Cardiomyopathy.

Journal article

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

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

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Journal article

Ingles J. et al, (2019), Circ Genom Precis Med, 12

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