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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

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

Journal article

Walsh R. et al, (2017), EUROPEAN HEART JOURNAL, 38, 3461 - 3468

Good or Bad Sequencing Data? Setting a Benchmark for the Quality of Diagnostic NGS in the Lab

Conference paper

Gutowska-Ding W. et al, (2017), JOURNAL OF MOLECULAR DIAGNOSTICS, 19, 1005 - 1006

When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies.

Journal article

Ehsan M. et al, (2017), J Muscle Res Cell Motil, 38, 303 - 316

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