Author
National Institutes of HealthORCID 0000-0001-7628-5741Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
5 papers
Recent·Most cited
Johan L.K. Van Hove, Marisa W. Friederich, Roxanne A. Van Hove…·Jennifer H. Yang
Four mitochondrial functional tests in fibroblasts show good sensitivity and excellent specificity for diagnosing primary mitochondrial disease.
Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden…·Marta Codina‐Solà
The paper identifies PSMC5 variants causing neurodevelopmental disorders and shows their impact on neuronal function and immune signaling, suggesting therapeutic targets.
Andressa Mota, Rui Hong, Sheng-Yong Niu…·Angela Ho
The paper identifies a de novo FOXR1 variant causing microcephaly and brain atrophy by impairing stress response pathways.
Francisco del Caño‐Ochoa, Bobby G. Ng, Malak Abedalthagafi…·Santiago Ramón‐Maiques
The paper develops a cell-based assay to identify pathogenic CAD variants and identifies 11 individuals likely to benefit from uridine therapy.
Kristin M. Ates, Tong Wang, Trevor Moreland…·Y. Albert Pan
This study investigates the role of PHETA1/2 in zebrafish, showing that their deficiency causes renal and craniofacial defects, and links a patient variant to disease pathogenesis.