Genetic & Genomic MedicinemedRxivPreprint
Rare loss-of-function variants in POLD1, PMS1 and FAN1 modify age at onset of motor symptoms in Huntington's disease
Sahar Gelfman, Rujin Wang, Adrián I. Campos…·Giovanni Coppola
1 citation
Author
Amelia Averitt
Regeneron (United States)ORCID 0000-0003-1221-1123Unclaimed ORCID profile · follow to get notified of new preprints
Biology Disciplines
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2022-2026 · peak 2/yrCo-Author Collaboration Network
10 top collaborators · 45 mutual co-author linksFocal author (center)Selected co-authorORCID co-authorUnlinked name
Curved chords = mutual co-authorship2 shared papersGenetic & Genomic Medicine
Anthony MarckettaORCID
Mutual co-authors in cluster
3 papers
Recent·Most cited
- Genetic & Genomic MedicinemedRxivPreprint
A Monte Carlo Estimation of the Narrow-Sense Heritability of COVID-19 Infection and Severity from AncestryDNA Survey Data
Amelia Averitt, Deepika Sharma, Michael N Cantor
This study estimates the genetic heritability of COVID-19 infection and severity using Monte Carlo methods on AncestryDNA survey data, finding moderate genetic contribution to infection and low to severity.
- Genetic & Genomic MedicineNature GeneticsPeer-reviewed
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…·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.
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