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Publications

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

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

Targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis

BMC Medical Genetics, 2020

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