Marcella Devoto
· Ph.D.VerifiedUniversity of Pennsylvania · Rehabilitation Medicine
Active 1980–2024
Research topics
- Genetics
- Computational biology
- Biology
- Medicine
- Internal medicine
Selected publications
Nature Genetics · 2022 · 180 citations
- Biology
- Genetics
- Computational biology
Nature Communications · 2020 · 86 citations
- Genetics
- Biology
- Computational biology
). We uncover CNV associations with four major disease categories, including autoimmune, cardio-metabolic, oncologic, and neurological/psychiatric diseases, and identify several drug-repurposing opportunities. Our results demonstrate robust frequency definition for large-scale rare variant association studies, identify CNVs associated with major disease categories, and illustrate the pleiotropic impact of CNVs in human disease.
Recent grants
NIH · $772k · 2018–2021
NIH · $3.3M · 2018
Frequent coauthors
- 213 shared
Håkon Håkonarson
University of Pennsylvania
- 143 shared
Mario Capasso
- 138 shared
John M. Maris
- 130 shared
Sharon J. Diskin
Children's Hospital of Philadelphia
- 97 shared
Maura Diamond
Children's Hospital of Philadelphia
- 80 shared
Achille Iolascon
University of Naples Federico II
- 79 shared
Nancy B. Spinner
Children's Hospital of Philadelphia
- 75 shared
Kristopher R. Bosse
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