Dasha Deen

Assessment of the variant prioritisation strategy for genomic newborn screening in the Generation Study

The paper assesses an automated variant prioritisation strategy for genomic newborn screening in the Generation Study, finding that 3-5% of samples require manual review and <1% need confirmatory testing.

Interactions between nuclear and mitochondrial SNPs and Parkinson's disease risk

The paper investigates mitonuclear SNP combinations in Parkinson's disease cohorts and identifies five significant interactions associated with disease risk.

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.