Author

Chad D. Williamson

Eunice Kennedy Shriver National Institute of Child Health and Human DevelopmentORCID 0000-0003-4886-5102Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Genetic & Genomic Medicine· 1 Neuroscience· 1

Signature Assays, Organisms & Methods

Click to filter · or open tag

Approach:experimental assay· 2 Organism:human· 1 Organism:mouse· 1

Frequent Co-Authors

Juan S. BonifacinoiD· 2 shared Adeline L. VanderveriD· 1 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alexandra G. BeilinaiD· 1 shared Alice KaganovichiD· 1 shared Amy M. PizzinoiD· 1 shared Ana Sofia Quintas· 1 shared Antonio Romito· 1 shared

Activity by Year

2021-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

Click any collaborator node to inspect or filter shared papers

Focal author (center)Selected co-authorORCID co-authorUnlinked name

Curved chords = mutual co-authorship

2 shared papersGenetic & Genomic Medicine

Juan S. BonifacinoORCID

Mutual co-authors in cluster

Author profile →

2 papers

Recent·Most cited

Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewedMar 25, 2026

BLOC1S1 variants cause lysosomal and autophagic defects resulting in a hypomyelinating leukodystrophy with epileptic encephalopathy

Raffaella De Pace, Carlos A Dominguez Gonzalez, Chad D. Williamson…·Adeline L. Vanderver

This study identifies BLOC1S1 variants causing a hypomyelinating leukodystrophy with epileptic encephalopathy, showing impaired lysosomal and autophagic function.

2 citationstop 4%

humanexperimental assay

𝕏 PostBluesky

NeurosciencebioRxivPreprintSep 16, 2021

Mutations in Auxilin cause parkinsonism via impaired clathrin-mediated trafficking at the Golgi apparatus and synapse

Dorien A. Roosen, Natalie Landeck, Luis Bonet‐Ponce…·Mark Cookson

This study identifies Auxilin mutations as a cause of Parkinson's disease by showing they impair clathrin-mediated trafficking at the Golgi and synapse, leading to neuropathological lesions.

15 citations

mouseexperimental assay

𝕏 PostBluesky