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Publications

Explore our range of publications, from published scientific papers to industry articles and thought leadership.

2019, npj Genomic Medicine

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

2019, Wiley Online Library

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

2019, The Lancet

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…

2018, Genetics in Medicine

Molecular autopsy by trio exome sequencing and postmortem examination in fetuses and neonates with prenatally identified structural anomalies

2018, Epilepsia

Genome-wide association study: Exploring the genetic basis for responsiveness to ketogenic dietary therapies for drug-resistant epilepsy

2018, Nature

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

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