Publications
Explore our range of publications, from published scientific papers to industry articles and thought leadership.
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
Molecular autopsy by trio exome sequencing and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
Genetics in Medicine, 2018