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Publications

Explore our range of publications, from published scientific papers to industry articles and thought leadership.

A comprehensive bioinformatic analysis of 126 patients with an inherited platelet disorder to identify both sequence and copy number genetic variants

Human Mutation, 2020

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

Nature, 2020

Refinement of the Clinical and Mutational Spectrum of UBE2A Deficiency Syndrome

Clinical Genetics, 2020

Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar

European Journal of Human Genetics, 2020

A comparison of genomic diagnostics in adults and children with epilepsy and comorbid intellectual disability

European Journal of Human Genetics, 2020

Early-onset cerebellar ataxia in a patient with CMT2A2

Molecular Case Studies, 2020

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