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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

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