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