Publications

Diagnosis of fetal abnormalities using exome sequencing: translating research into practice.

Re-annotation of 191 developmental and epileptic encephalopathy-associated genes unmasks de novo variants in SCN1A

Next‐generation sequencing for the diagnosis of MYH9‐RD: Predicting pathogenic variants

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…

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