Publications

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

Systematic re-annotation of 191 genes associated with early-onset epilepsy unmasks de novo variants linked to Dravet syndrome in novel SCN1A exons

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

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management