Author
Alnylam Pharmaceuticals (United States)ORCID 0000-0003-1096-9627Unclaimed ORCID profile · follow to get notified of new preprints
5 papers
Recent·Most cited
Aaron M. Holleman, Aimée M. Deaton, Rachel A. Hoffing…·Lucas D. Ward
The paper identifies rare variants in CFHR5 associated with reduced risk of AMD and increased retinal thickness, suggesting CFHR5 as a therapeutic target.
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.
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.
Tracy L. McGregor, Karen A. Hunt, Elaine Yee…·David A. van Heel
The paper identifies a healthy individual with complete HAO1 knockout, showing normal oxalate levels but elevated glycolate, supporting the safety of HAO1 inhibition for PH1 therapy.
Kunal Bhutani, Katherine Stansifer, Simina Ticau…·Robin C. Friedman
The paper identifies genoinformative markers (GIMs) in mammalian spermatogenesis showing allelic expression bias, suggesting selective sweeps and evolutionary conflict between germline and somatic functions.