Publications
Explore our range of publications, from published scientific papers to industry articles and thought leadership.
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
Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy
Epilepsia, 2018
Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management
Nature, 2018
Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies
Annual Review of Genomics and Human Genetics, 2017