Alexander O. Flynn-Carroll

This study evaluates the GIRA approach in a health system, finding 30.4% of patients labeled high-risk based on genomic data, with ancestry differences and social deprivation influences.

This study identifies genetic loci associated with Meniere's disease and links them to inner ear development and retinoic acid metabolism.

This study examines common and rare variant genetic contributions to autism in African Americans, highlighting differences in genetic effects and polygenic score transferability between European and African ancestries.

This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.

The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.

This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.

The paper identifies GIGYF1 loss of function variants as associated with increased risk of type 2 diabetes and higher glucose/HbA1c levels in a large exome sequencing study.