Skip to content

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

pinterest Twitter Facebook email LinkedIn < Back to top