Justin A. McDonough

This study shows that ultraconserved poison exons regulate mitotic splicing fidelity and stem cell viability by controlling SR protein levels and splicing networks.

The paper identifies TMEM106B fibril accumulation as a shared mechanism in neurodegeneration linked to genetic variants in TMEM106B and GRN.

The paper identifies a Denisovan-derived Alu insertion in OCA2 associated with increased pigmentation in Melanesians and demonstrates its functional impact in melanocytes.

This paper presents a xeno-free protocol to rapidly differentiate human iPSCs into microglia using the KOLF2.1J line, resulting in functional microglia with immune markers and phagocytic activity.

The paper investigates the biological impact of GBA1 mutations using multi-omics in isogenic iPSC lines, finding limited overlapping results across cell types and suggesting RNA-based quantitation may not be optimal for characterizing GCase mechanisms.

This study shows that ALS-linked PFN1 mutations impair vesicular degradation in iPSC-derived microglia by disrupting autophagy, which can be mitigated by Rapamycin.

The paper evaluates CNVs in a hiPSC line and concludes that their potential impact on neurological disease modelling is outweighed by the line's benefits.

The paper identifies and characterizes a reference iPSC line, KOLF2.1J, for standardized use in collaborative studies across multiple differentiation protocols and assays.

This paper improves Cas9 RNP editing in human stem cells to achieve high rates of biallelic homology-directed repair of SNVs by using dCas9 to block re-cutting and damage.