Author
Northwestern University
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
3 papers
Recent·Most cited
Annika L. Schroder, Ximena Gómez-Maqueo, Sean R Golinski…·Alicia Guemez‐Gamboa
The paper compares the molecular and functional effects of a PACS1 variant (p.R203W) with complete PACS1 loss-of-function in iPSC-derived neurons, finding distinct phenotypes suggesting a non-loss-of-function mechanism.
Norma K. Hylton, David J Kang, Steven C. Decker…·Richard S. Smith
This study identifies de novo PANX1 mutations in individuals with PMG and microcephaly, showing they disrupt glycosylation, increase ATP release, and alter cortical development through ion conductance and cell fate regulation.
Sean R Golinski, Karla Soriano, Alex C. Briegel…·Richard S. Smith
The paper demonstrates that ASO therapy targeting KCNT1 reduces seizures in a severe childhood epilepsy condition by normalizing neuronal function in prenatally enriched neurons.