Author

Sequencing and Lab Operations

Regeneron (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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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Research Focus:GWAS / association mapping· 3 Assay:GWAS summary statistics· 3 Organism:human· 3 Approach:statistical model· 3

Frequent Co-Authors

Adam J. Mansfield· 3 shared Andrew Deubler· 3 shared Ayesha Rasool· 3 shared Boris BoutkoviD· 3 shared Caitlin Forsythe· 3 shared Christina Beechert· 3 shared Dadong LiiD· 3 shared Deepika SharmaiD· 3 shared

Activity by Year

2021-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Adam J. Mansfield

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3 papers

Recent·Most cited

Population-scale analysis of common and rare genetic variation associated with hearing loss in adults

Kavita Praveen, Lee Dobbyn, Lauren Gurski, Ariane H. Ayer, Jeffrey C. Staples, Shawn Mishra, Yu Bai, Alexandra M. Kaufman, Arden Moscati, Christian Benner, Esteban Chen, Siying Chen, Alexander Popov, Janell Smith, Lance J. Adams, , Joe Burns

This study identifies 53 genetic loci associated with hearing loss, including 15 novel ones, using genome-wide and exome-sequencing data from multiple cohorts.

Communications Biology · Jun 3, 2022Peer-reviewedGenetic & Genomic Medicine

Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease

Julie E. Horowitz, Jack A. Kosmicki, Amy Damask, Deepika Sharma, Genevieve H. L. Roberts, Anne E. Justice, Nilanjana Banerjee, Marie V. Coignet, Ashish Yadav, Joseph B. Leader, Anthony Marcketta, Danny S. Park, Rouel Lanche, Evan K. Maxwell, Spencer C. Knight, , Arden Moscati

The paper identifies a rare variant that lowers ACE2 expression and reduces COVID-19 risk, and develops a genetic risk score predicting severe disease.

Nature Genetics · Mar 3, 2022Peer-reviewedGenetic & Genomic Medicine

GWAS of serum ALT and AST reveals an association of SLC30A10 Thr95Ile with hypermanganesemia symptoms

Lucas D. Ward, Ho-Chou Tu, Chelsea B. Quenneville, Shira Tsour, Alexander O. Flynn-Carroll, Margaret M. Parker, Aimée M. Deaton, Patrick A. J. Haslett, Luca A. Lotta, Niek Verweij, Manuel A. R. Ferreira, RGC Management and Leadership Team, Goncalo Abecasis, Michael Cantor, Giovanni Coppola, , 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.

Nature Communications · Jul 27, 2021Peer-reviewedGenetics