Author

José E. Abdenur

Children's Hospital of Orange CountyORCID 0000-0002-4671-1241Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

Click to filter author papers

Click to filter · or open tag

2026-2026 · peak 2/yr

10 top collaborators · 27 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

Jill Anne RosenfeldORCID

Mutual co-authors in cluster

2 papers

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJul 9, 2026

The paper identifies novel AXIN2 variants causing expanded phenotypes in humans and validates their pathogenicity using human, mouse, and fly models.

DOI 10.1016/j.gim.2026.102648

Genetic & Genomic MedicinemedRxivPreprintJun 15, 2026

Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.

1 citation