Valerie Arboleda

17PUBLICATIONS
77CO-AUTHORS
NeurogeneticsCell and nuclear divisionMedical virologyMedical mycologyEpigenetics (incl. genome methylation and epigenomics)
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Publications (17)

|Oct 08, 2026
Dominant truncating variants in KAT6A cause two neurodevelopmental disorders with opposite gene regulatory and metabolic changes.

|Jul 29, 2026
Truncating ASXL1 variants rewire cellular metabolism via mitochondrial pyruvate carrier repression.

|Jul 10, 2026
Genetic and transcriptomic determinants of disseminated coccidioidomycosis identify a founder variant in NLRX1 and ancestry-specific rare variants in immune response genes.

|Oct 03, 2025
Type-2 immune skewing in patients with disseminated coccidioidomycosis.

Timothy J Thauland, Smriti S Nagarajan, Alexis V Stephens

|Jun 05, 2025
Investigating the sources of variable impact of pathogenic variants in monogenic metabolic conditions.

Angela Wei, Richard Border, Boyang Fu

|May 01, 2024
Electronic health record signatures identify undiagnosed patients with common variable immunodeficiency disease.

Ruth Johnson, Alexis V Stephens, Rachel Mester

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Frequent Collaborators

5 joint publications

Manish J Butte

3 joint publications

Angela Wei

2 joint publications

Isabella Lin

2 joint publications

Nadav Brandes