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Daniel C. Koboldt

Biochemistry, Genetics and Molecular Biology · The Ohio State University

OpenAlex ORCID
Mid career · publishing since 2006
Genomics and Rare DiseasesCancer Genomics and DiagnosticsGenomics and Phylogenetic StudiesGenomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental Disorders

Publications

157

Citations

34,909

Est. group size

~18

Recurring co-author estimate

Active years

21

Publishing since 2006

Research summary
AI-generated

Daniel C. Koboldt's research focuses on identifying and interpreting genetic variants that cause rare neurodevelopmental disorders, congenital heart and craniofacial conditions, and certain cancers, using genome sequencing and functional studies. Much of the work involves discovering new disease genes (such as MARK2, CBX1, EIF3A/EIF3B, and KCNB2) and developing computational methods to better predict which genetic changes are disease-causing. This work is relevant to students interested in human genetics, genomic medicine, and bioinformatics for rare disease diagnosis.

Rare disease gene discoveryNeurodevelopmental disorder geneticsVariant interpretation and bioinformatics methodsCancer genomicsClinical sequencing best practices

Publication output grew steadily from 2017 to a peak around 2020-2021, then leveled off to a fairly steady pace of roughly 8-10 papers per year through 2025.

Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026

Publication cadence
Publications per year over the last 10 years — averaging 8.4/year recently
2017: 4 publications172018: 6 publications182019: 8 publications192020: 12 publications202021: 18 publications18212022: 14 publications222023: 8 publications232024: 10 publications242025: 9 publications252026: 1 publication26
Recent publications
Publishes in
  • Molecular Case Studies×9
  • The American Journal of Human Genetics×6
  • bioRxiv (Cold Spring Harbor Laboratory)×6
  • medRxiv×5
  • Molecular Genetics and Metabolism×4
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By research-topic overlap
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This profile was generated automatically from public scholarly data (OpenAlex). Group size and activity levels are estimates derived from co-authorship patterns.

Last updated Jul 19, 2026.

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