Publications
81
Citations
4,678
Est. group size
~12
Recurring co-author estimate
Active years
21
Publishing since 2006
Daniel C. Koboldt works in genomics and rare disease research, focusing on identifying genetic variants that cause developmental and neurological disorders. His work involves sequencing studies that link specific gene mutations to conditions such as brain malformations, neurodevelopmental disorders, and mitochondrial enzyme deficiencies. This research typically involves large collaborative teams analyzing patient DNA to pinpoint disease-causing variants and understand their biological effects.
Publication output was low and steady through the late 2010s but grew sharply starting in 2022-2023, suggesting an expanding and increasingly active research program in recent years.
Generated by claude-sonnet-5 from public bibliographic data · Jul 20, 2026
- Newly identified ARF3 variants strengthen the causal link between Golgi fragmentation and brain malformations
European Journal of Human Genetics · 2026
- Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
Nature Communications · 2025
- Expanding the phenotypic and molecular spectrum of <i>NFS1</i> ‐related disorders that cause functional deficiencies in mitochondrial and cytosolic iron–sulfur cluster containing enzymes
Human Mutation · 2022
- Evidence for SNP-SNP interaction identified through targeted sequencing of cleft case-parent trios
Genetic Epidemiology · 2016
- American Journal of Medical Genetics Part A×5
- Figshare×4
- European Journal of Human Genetics×3
- Neurology Genetics×2
- Nature Communications×2
- Jiashuai Zhang
Medicine · The Ohio State University
- Margaret Liu
Medicine · The Ohio State University
- Lufang Zhou
Medicine · The Ohio State University
- Erin Macrae
Medicine · The Ohio State University
- Anika T. Chowdhury
Medicine · The Ohio State University
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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