Daniel C. Koboldt

Career Trajectory

Research Cluster Map

Direct collaborators. Node size = influence, colour = community, dashed = past collaboration.

• Disrupted O-GalNAc glycosylation as a mechanism and biomarker of <i>SLC35A2</i> -associated epilepsy

  bioRxiv (Cold Spring Harbor Laboratory) · 2026-03-04

• A functional role for Septin-2 in the maintenance of the axon initial segment and in human cognitive development

  Brain · 2025-12-16

• De novo variants in ATP2B1 lead to neurodevelopmental delay

  The American Journal of Human Genetics · 2025-11-13

• Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function

  Nature Genetics · 2025-10-22 · 3 citations

• A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

  The American Journal of Human Genetics · 2025-09-30 · 2 citations

• Bi-allelic INTU variants define a ciliopathy disorder characterized by orofacial, digital, and cardiac anomalies

  Human Genetics and Genomics Advances · 2025-09-18

• 283PGenomic rearrangements in Duchenne muscular dystrophy diagnosed by RNA and long-read genome sequencing

  Neuromuscular Disorders · 2025-09-01

• Like father, like son: RNA-sequencing from a 30-year-old muscle biopsy identifies a novel splice variant in ACTA1 as the cause of an attenuated nemaline myopathy phenotype

  Neuromuscular Disorders · 2025-06-04

• POS0074 TRANSCRIPTOMIC PROFILING OF KIDNEY BIOPSIES IMPLICATES Th17 AND IL-17 IN ANCA-ASSOCIATED GLOMERULONEPHRITIS

  Annals of the Rheumatic Diseases · 2025-06-01

• P726: Provenance/identity testing in genome sequencing: A single institution’s experience

  Genetics in Medicine Open · 2025-01-01

• Expanding the phenotypic spectrum of CSNK2A1-associated Okur-Chung neurodevelopmental syndrome

  Human Genetics and Genomics Advances · 2024-11-04 · 2 citations

• MARK2 variants cause autism spectrum disorder via the downregulation of WNT/β-catenin signaling pathway

  The American Journal of Human Genetics · 2024-10-16 · 17 citations