Publications
Explore our range of publications, from published scientific papers to industry articles and thought leadership.
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
Targeted whole exome sequencing enables the first prenatal diagnosis of the lethal skeletal dysplasia Osteocraniostenosis
BMC Medical Genetics, 2020
ZMYND11‐related syndromic intellectual disability: 16 patients delineating and expanding the phenotypic spectrum
Human Mutation, 2020
Diagnosis of fetal abnormalities using exome sequencing: translating research into practice
Ultrasound Obstet Gynecol, 2019