Publications

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

Whole-genome sequencing of rare disease patients in a national healthcare system

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies

Genome annotation for clinical genomic diagnostics: strengths and weaknesses