Author

Carlos A Dominguez Gonzalez

Children's Hospital of PhiladelphiaORCID 0009-0003-6950-8013Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Adeline L. VanderveriD· 2 shared Arastoo VossoughiD· 2 shared Cas SimonsiD· 2 shared Matthew T. WhiteheadiD· 2 shared Aida Maria Bertoli‐AvellaiD· 1 shared Alex J. FélixiD· 1 shared Alyssa Bryan· 1 shared Amrita Basu· 1 shared

Activity by Year

2026-2026 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Adeline L. VanderverORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintAug 20, 2026

Biallelic IRAK4 Variants Associated with Severe Neurological Autoinflammation: An Expansion of the Clinical Phenotype

Emma K. Wiener, Rocío Rius, Carlos A Dominguez Gonzalez…·Adeline L. Vanderver

The paper identifies six patients with biallelic IRAK4 variants causing severe neurological autoinflammation without immunodeficiency, expanding the known phenotype of IRAK4-related disease.

DOI 10.64898/2026.08.14.26359722

humanwhole-exome sequencing

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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

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