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Publications

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

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

2018, bioRXiv

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

2017, Annual Review of Genomics and Human Genetics

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

2017, Genome Medicine

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

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