Explore our range of publications, from published scientific papers to industry articles and thought leadership.
2019, Ultrasound Obstet Gynecol
Diagnosis of fetal abnormalities using exome sequencing: translating research into practice.
2019, npj Genomic Medicine
Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A
2019, Human Mutation
Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants
2019, The Lancet
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…
2018, Genetics in Medicine
Molecular autopsy by trio exome sequencing and postmortem examination in fetuses and neonates with prenatally identified structural anomalies
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy