Author
Sanford Burnham Prebys Medical Discovery InstituteORCID 0000-0001-6316-0501Unclaimed ORCID profile · follow to get notified of new preprints
4 papers
Recent·Most cited
Sonal Mahajan, Sara Ancel, Giuliana Ascone…·Hudson H. Freeze
This study uses patient-derived iPSC cartilage organoids to show defective ECM deposition and altered chondrogenic trajectory in Saul-Wilson syndrome.
Dulcie Lai, Paulina Sosicka, Damian J. Williams…·Erin L. Heinzen
This study investigates the functional impact of SLC35A2 loss of function variants on glycomic signatures, neuronal fate, and network dynamics using human induced pluripotent stem cell-derived neurons.
Zhi‐Jie Xia, Xin-Xin I. Zeng, Mitali Arun Tambe…·Hudson H. Freeze
The paper investigates how a COG4 mutation causes SWS by disrupting non-canonical Wnt signaling in zebrafish and fibroblasts, leading to developmental defects.
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.