David J. Bunyan

Variant curation of the largest compendium of FOXL2 coding and non-coding sequence and structural variants in BPES

The paper curates and classifies the largest compendium of FOXL2 sequence and structural variants in BPES, identifying key mutational patterns and improving diagnostic and genetic counseling.

Utility of genome sequencing and group-enrichment to support splice variant interpretation in Marfan syndrome

The paper identifies non-canonical FBN1 splice variants in undiagnosed Marfan syndrome families using genome sequencing and RNA testing, finding 20 candidate variants with significant enrichment in FTAAD cases.

Predicting the impact of rare variants on RNA splicing in CAGI6

The paper evaluates splicing prediction methods on 56 clinically validated variants, finding some methods match or exceed SpliceAI's performance but highlighting ongoing challenges in accuracy.

RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders

This study uses RNA-sequencing to identify novel diagnoses in Mendelian disorders by detecting aberrant splicing and expression abnormalities, particularly in patients without candidate sequence variants.

A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project.

This study analyzes splicing variants in whole-genome sequencing data to identify new diagnoses in rare diseases.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation

The paper analyzes de novo mutations in developmental disorders using exome sequencing of 4,293 families, identifying 94 genes and estimating a birth prevalence of 0.22-0.47%.