Deborah L. French

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 paper demonstrates that CRISPR-mediated transcriptional activation can upregulate SYNGAP1 in a mouse model of SRID and human neurons, rescuing deficits without targeting mutations.

This study shows that human cortical organoids generated across multiple sites using a harmonized protocol consistently produce similar cell types and structures, though with some site-specific differences in size and stress markers.

The paper shows that megakaryocytes are entrapped in the lungs, release cytoplasmic fragments, and undergo platelet formation, supporting a pulmonary-centric 'catch-and-release' model of thrombopoiesis.

This study uses single-cell RNA-sequencing to analyze the individual and combined effects of Trisomy 21 and GATA1s on hematopoietic progenitor cells, revealing their impact on lineage skew and proliferation.

This paper identifies the NOD1-RIPK2-NFkB axis as a critical inflammatory pathway for hematopoietic stem cell specification from human pluripotent stem cells.

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

The paper examines platelet parameters in 22q11.2 deletion syndrome patients, finding that deletion status of GP1BB, not surface expression, determines platelet counts and that counts decrease with age.

This study shows that RUNX1 haploinsufficiency reduces megakaryocyte-biased hematopoietic progenitor cells and identifies drug targets to correct this defect.

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.