Author

David V. Erbe

Alnylam Pharmaceuticals (United States)

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetics· 2 Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:GWAS / association mapping· 2 Assay:GWAS summary statistics· 2 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Paul NioiiD· 3 shared Simina TicauiD· 3 shared Emre AldinciD· 2 shared Gregory HinkleiD· 2 shared Margaret M. ParkeriD· 2 shared Aimée M. DeatoniD· 1 shared Akshay K. Vaishnaw· 1 shared Alexander O. Flynn-Carroll· 1 shared

Activity by Year

2020-2021 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 38 mutual co-author links

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3 shared papersGenetics

Paul NioiORCID

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Author profile →

3 papers

Recent·Most cited

Association of the Transthyretin Variant V122I With Polyneuropathy Among Individuals of African Descent

Margaret M. Parker, Scott M. Damrauer, Catherine Tcheandjieu, David V. Erbe, Emre Aldinc, Philip Nigel Hawkins, Julian David Gillmore, Leland E. Hull, Julie Ann Lynch, Jacob Joseph, Simina Ticau, Alexander O. Flynn-Carroll, Aimée M. Deaton, Lucas D. Ward, Themistocles L. Assimes, , 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.

Scientific Reports · Jun 2, 2021Peer-reviewedGenetic & Genomic Medicine

Transthyretin-stabilizing mutation T119M is not associated with protection against vascular disease or death in the UK Biobank

Margaret M. Parker, Simina Ticau, James Thomas Butler, David V. Erbe, Madeline P. Merkel, Emre Aldinc, Gregory Hinkle, 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.

Amyloid · May 19, 2020Peer-reviewedGenetics

Deep phenotyping of a healthy human HAO1 knockout informs therapeutic development for primary hyperoxaluria type 1.

Tracy L. McGregor, Karen A. Hunt, Elaine Yee, Dan Mason, Paul Nioi, Simina Ticau, Marissa Pelosi, Perry R Loken, Sarah Finer, Debbie A. Lawlor, Eric B. Fauman, Qin Qin Huang, Chris Griffiths, Daniel G. MacArthur, Richard C. Trembath, , 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.

eLife · Mar 24, 2020Peer-reviewedGenetics