Publications
Explore our range of publications, from published scientific papers to industry articles and thought leadership.
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
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
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
npj Genomic Medicine, 2019