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Publications

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

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

Genome annotation for clinical genomic diagnostics: strengths and weaknesses

Genome Medicine, 2017

Bridging the gap: the need for genomic and clinical -omics data integration and standardization in overcoming the bottleneck of variant interpretation

Expert Review of Precision Medicine and Drug Development, 2017

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