Author

Maria Bonanni

University of Pennsylvania

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

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Approach:benchmark study· 1 Research Focus:benchmarking· 1 Research Focus:database / resource· 1 Assay:electronic health records· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1

Frequent Co-Authors

Katherine L. NathansoniD· 2 shared Staci KallishiD· 2 shared Theodore G. DrivasiD· 2 shared Adam C. ElNaggariD· 1 shared Ala Streater· 1 shared Amal YussufiD· 1 shared Anna C. Raper· 1 shared Anna RaperiD· 1 shared

Activity by Year

2025-2025 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 35 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Katherine L. NathansonORCID

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Author profile →

2 papers

Recent·Most cited

Practice-Based Insights into Adult Genetic Medicine: High Diagnostic Yield, Indication-Specific Results, and Patterns of Test Utilization across 10,000 Patient Encounters

Jessica I. Gold, Yehuda Elkaim, Stephanie Byers Asher, Zoe Bogus, Teresa Chai, Stacey Cohen, Courtney Condit, Isaac Elysee, Brielle N. Gehringer, Shannon M. Gray, Laura Hennessy, Emma Kennedy, Anna Raper, Maria Bonanni, Ala Streater, , Theodore G. Drivas

This study analyzes genetic testing outcomes and utilization patterns in 10,000 adult patient encounters, finding high diagnostic yield and indication-specific variation in test results.

medRxiv · Oct 9, 2025 · PreprintGenetic & Genomic Medicine

A genotype-first approach identifies high incidence of NF1 pathogenic variants with distinct disease associations

Anton Mikhailovich Safonov, Tomoki T. Nomakuchi, Elizabeth Chao, Carolyn Horton, Jill S. Dolinsky, Amal Yussuf, Marcy E. Richardson, Virginia Speare, Shuwei Li, Zoe C. Bogus, Maria Bonanni, Anna C. Raper, Trust Odia, Bradley Stephen Wubbenhorst, Elsa Faulders, , Theodore G. Drivas

The paper identifies a higher prevalence of NF1 pathogenic variants using a genotype-first approach, finding many cases with somatic mosaicism and increased cancer risk.

Nature Communications · Apr 1, 2025Peer-reviewedGenetic & Genomic Medicine