Timothy J. Nelson

The paper identifies ribosomal protein genes as contributors to hypoplastic left heart syndrome through functional analysis across multiple model systems.

This paper uses CRISPR-edited human iPSCs with hypomorphic NOTCH1 to model hypoplastic left heart syndrome, identifying auranofin as a potential therapeutic.

The paper identifies mitochondrial MICOS complex genes, CHCHD3 and CHCHD6, as contributors to hypoplastic left heart syndrome through functional studies in Drosophila and genetic analysis of patient cohorts.

This study identifies KMT2D-NOTCH signaling defects in HLHS coronary artery endothelial cells, showing impaired differentiation and proliferation due to suppressed NOTCH target genes.

The paper identifies LRP2 as a novel genetic driver of hypoplastic left heart syndrome using whole genome sequencing and multi-model systems.

This study shows that mitochondrial dysfunction in human neurons, caused by high heteroplasmy of the m.3243A>G variant, leads to impaired neural development, reduced synaptic connectivity, and decreased network activity.

This study uses single-cell RNA sequencing to identify endocardial defects in hypoplastic left heart syndrome, linking them to abnormal valve and septum development.

This paper introduces a method to engineer precise deletions in the mitochondrial genome using TALE proteins in zebrafish and human cells.