Author

Staci Kallish

Children's Hospital of PhiladelphiaORCID 0000-0003-2515-2097Unclaimed ORCID profile · follow to get notified of new preprints

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 Maria Bonanni· 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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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintOct 9, 2025

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…·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.

DOI 10.1101/2025.10.09.25337579

humanelectronic health records

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Genetic & Genomic MedicineNature CommunicationsPeer-reviewedApr 1, 2025

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

Anton Mikhailovich Safonov, Tomoki T. Nomakuchi, Elizabeth Chao…·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.

23 citationstop 1%

humanwhole-exome sequencing

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