Author
Alnylam Pharmaceuticals (United States)ORCID 0000-0002-5414-5219Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville…·Paul Nioi
This study identifies a rare variant in SLC30A10 associated with elevated ALT/AST and hypermanganesemia symptoms, suggesting broader health impacts beyond diagnosed cases.
Joseph D. Szustakowski, Suganthi Balasubramanian, Erika M. Kvikstad…·Adam Platt
The paper describes exome sequencing of 200,643 UK Biobank participants, providing a rich resource of coding variants for genetic and drug discovery research.
Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu…·Paul Nioi
This study identifies a significant association between the V122I TTR variant and polyneuropathy in Black individuals, highlighting increased risk of hATTR amyloidosis manifestations.
Aimée M. Deaton, Margaret M. Parker, Lucas D. Ward…·Paul Nioi
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.
Margaret M. Parker, Simina Ticau, James Thomas Butler…·Paul Nioi
The paper investigates the association between the TTR T119M mutation and vascular disease or death in the UK Biobank, finding no significant protective effect.