Author

Roberta Villa

Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

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· 1

Signature Assays, Organisms & Methods

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Research Focus:differential expression· 1 Organism:human· 1 Research Focus:polygenic risk· 1 Approach:statistical model· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Amy E. RobertsiD· 1 shared Beth A. KozeliD· 1 shared Carolyn Β. MervisiD· 1 shared Colleen A. MorrisiD· 1 shared D. Liu· 1 shared Elisa BiaminoiD· 1 shared Gabriella Maria SqueoiD· 1 shared Giuseppe MerlaiD· 1 shared

Activity by Year

2024-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Amy E. RobertsORCID

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1 paper

Recent·Most cited

Identifying individuals at risk for surgical supravalvar aortic stenosis by polygenic risk score with graded phenotyping

D. Liu, Carolyn Β. Mervis, Mark David Levin, Elisa Biamino, Maria Francesca Bedeschi, Maria Cristina Digilio, Gabriella Maria Squeo, Roberta Villa, Sharon Osgood, J. A. Freeman, N. Raja, Giuseppe Merla, Amy E. Roberts, Colleen A. Morris, Lucy R. Osborne, Beth A. Kozel

The paper develops polygenic risk scores for surgical supravalvar aortic stenosis using variants from Williams syndrome patients, achieving high AUC and low misclassification rates.

medRxiv · Sep 17, 2024 · PreprintGenetic & Genomic Medicine