Author
Children's Hospital of Philadelphia
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
5 papers
Recent·Most cited
Zhongqi Hou, Rolf Dale Bates, Prabhat R. Napit…·Sunetra Sase
This study shows that deleting TUBB4A in human iPSCs reduces cell-autonomous deficits in oligodendrocytes and neurons associated with H-ABC, suggesting it could be a therapeutic strategy for TUBB4A-related leukodystrophy.
Sheridan H. Littleton, Bao Khanh Trang, Christina M. Volpe…·Struan F.A. Grant
The paper identifies rs7132908 as a causal variant in the chr12q13 obesity locus, showing it affects FAIM2 expression and neurodevelopment through cis-regulatory mechanisms.
Carolina Gracia-Diaz, Jonathan Elliot Perdomo, Munir E. Khan…·Naiara Akizu
The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.
Jennine M. Dawicki-McKenna, Alex J. Félix, Elisa A. Waxman…·Benjamin L. Prosser
Christopher S. Thom, Chintan Jobaliya, Kimberly Lorenz…·Benjamin F. Voight
This study identifies TPM1 as a causal gene for hematopoietic traits using genome-wide association data and CRISPR/Cas9 knockout in iPSCs, showing enhanced in vitro hematopoiesis.