Author

Daniel C. Koboldt

Nationwide Children's HospitalORCID 0000-0003-3204-3067Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 3 Organism:mouse· 3 Research Focus:gene regulatory network inference· 2 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Research Focus:drug response / drug discovery· 1

Frequent Co-Authors

Frédéric Tran Mau‐ThemiD· 2 shared Adam P. OstendorfiD· 1 shared Adithe RivaldiiD· 1 shared Alexandre ReymondiD· 1 shared Allison Daley· 1 shared Allison Thompson· 1 shared Ammar ShaikhouniiD· 1 shared Ana Perez Caballero· 1 shared

Activity by Year

2023-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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2 shared papersGenetics

Frédéric Tran Mau‐ThemORCID

Mutual co-authors in cluster

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3 papers

Recent·Most cited

GeneticsGenes & DiseasesPeer-reviewedMay 1, 2026

Lipid transport is necessary for neocortical lamination

Jacqueline Chrast, Stephan C. Collins, Catherine Roger…·Alexandre Reymond

The paper investigates BLTP1's role in neocortical lamination by analyzing patients and mouse models, finding lipid transport defects cause structural brain abnormalities.

DOI 10.1016/j.gendis.2026.102257

humanmouse

𝕏 PostBluesky

NeurosciencebioRxivPreprintApr 9, 2026

Somatic variants activating the RAS-MAPK pathway confer susceptibility to hippocampal sclerosis in drug-resistant epilepsy

Lauren Mashburn‐Warren, Ashton S. Holub, Sahibjot Sran…·Tracy A. Bedrosian

The paper identifies somatic RAS-MAPK pathway activating variants in hippocampal sclerosis patients, linking them to seizure-induced injury and suggesting therapeutic targets.

3 citations

humanmouse

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintOct 11, 2023

Monoallelic de novo variants in DDX17 cause a novel neurodevelopmental disorder

Eleanor G. Seaby, Annie Godwin, Valentine Clerc…·Sarah Ennis

The paper identifies de novo monoallelic DDX17 variants in 11 patients with neurodevelopmental disorders and shows DDX17 dysfunction causes neuronal migration and axon outgrowth defects in multiple models.

DOI 10.1101/2023.10.11.23295963

mousezebrafish

𝕏 PostBluesky