Jean Ann Maguire

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.

This study shows TPM1 deficiency promotes cell state transitions and enhances hemogenic endothelial cell specification during hematopoiesis in both human and mouse models.

The paper identifies rs7132908 as a causal variant in the chr12q13 obesity locus, showing it affects FAIM2 expression and neurodevelopment through cis-regulatory mechanisms.

This paper creates an iPSC model of Multiple Sulfatase Deficiency, showing that neurons become more vulnerable to SUMF1 loss during differentiation.

The paper identifies CNVs in KOLF2.1J iPSCs linked to neurological disorders, showing they arose in vitro and affect gene expression in neural cells.

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.