Publications
Explore our range of publications, from published scientific papers to industry articles and thought leadership.
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
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
Human Mutation, 2019
Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study Whole-genome sequencing of rare disease patients in a national healthcare system
The Lancet, 2019