Author

Marissa Pelosi

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· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Chris GriffithsiD· 1 shared Dan MasoniD· 1 shared Daniel G. MacArthuriD· 1 shared David A. van HeeliD· 1 shared David V. Erbe· 1 shared Debbie A. LawloriD· 1 shared Devin OglesbeeiD· 1 shared Elaine Yee· 1 shared

Activity by Year

2020-2020 · peak 1/yr

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10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Chris GriffithsORCID

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1 paper

Recent·Most cited

GeneticseLifePeer-reviewedMar 24, 2020

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

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.

59 citationstop 3%

humanwhole-exome sequencing

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