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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

Whole-genome sequencing of rare disease patients in a national healthcare system

Journal article

ROBERTS I. and WATKINS H., (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

Germline selection shapes human mitochondrial DNA diversity.

Journal article

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

RV FUNCTION DETERIORATES EARLIER THAN LV FUNCTION AND PREDICTS ADVERSE CARDIOVASCULAR OUTCOMES

Conference paper

Raman B. et al, (2019), HEART, 105, A5 - A6

From Genotype to Phenotype.

Journal article

Mackley M. et al, (2018), Circ Genom Precis Med, 11

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures.

Journal article

Ito Y. et al, (2018), Am J Hum Genet, 103, 144 - 153

Exploring the potential duty of care in clinical genomics under UK law.

Journal article

Mitchell C. et al, (2017), Med Law Int, 17, 158 - 182

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