Author

Elisabeth M. Schuth

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· 1

Signature Assays, Organisms & Methods

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Organism:human· 1 Approach:statistical model· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adam C. ElNaggariD· 1 shared Amal YussufiD· 1 shared Anna C. Raper· 1 shared Anton Mikhailovich SafonoviD· 1 shared Bradley Stephen WubbenhorstiD· 1 shared Carly Bess ScaliseiD· 1 shared Carolyn HortoniD· 1 shared Elizabeth ChaoiD· 1 shared

Activity by Year

2025-2025 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Adam C. ElNaggarORCID

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1 paper

Recent·Most cited

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