Ronald P. Hart

This study identifies AUD-associated and ethanol-responsive proteins in human cortical organoids and finds candidate biomarkers linked to AUD and ethanol exposure.

This study analyzes 173 multiplex Portuguese families to identify rare genetic variants associated with schizophrenia, mood disorders, and autism, finding a CHD2 mutation linked to diverse mental illness phenotypes.

The paper investigates XCI erosion in CRISPR-edited female iPSCs and their derived neurons, showing variable erosion in iPSCs and preserved XIST effects on gene expression in neurons.

This study shows ethanol exposure in a human iPSC-derived triculture model increases TREM2 expression and soluble TREM2 through alternative splicing, suggesting a link to neuroimmune dysregulation in alcohol use disorders.

This study identifies creatine deficiency as the underlying cause of neurogenesis defects in DcpS mutant cells and shows creatine supplementation reverses the phenotype.

This paper develops a high-throughput method to measure neuronal activity in human iPSC-derived glutamatergic neurons using Mg2+-free ACSF and confirms donor-specific firing patterns.

This study examines how polygenic risk scores for Alcohol Use Disorder affect microglial responses to ethanol exposure in human iPSC-derived microglia.

The paper develops a pipeline for efficient loss-of-function mutagenesis in NPD genes using base editing in hiPSCs, achieving high reproducibility and confirming neural phenotypes.

The paper uses multiomic profiling of the caudate nucleus to identify gene expression and chromatin changes in AUD, linking them to risk genes through QTL analysis.

The paper investigates how upregulated GIRK2 affects ethanol-induced changes in human neurons, showing it counteracts excitability and respiration changes.

This study shows HIV-1 infects human iPSC-derived microglia, causing sustained type I interferon signaling and disease risk gene expression in a neural model.

The paper investigates the impact of the NLGN3 R451C mutation on human neurons, finding it reduces protein levels but enhances excitatory synapses, potentially contributing to ASD pathogenesis.

This study shows that KCNJ6 noncoding variants increase excitability in human glutamatergic neurons, an effect reversed by ethanol exposure.

This paper shows that full-length APP affects axon initial segment structure, linking APP function to Alzheimer's disease without relying on Aβ.

The paper evaluates methods for accurately classifying RNA sequencing reads from mixed-species data, finding alignment-dependent and alignment-independent approaches effective across different species ratios.

The paper integrates GWAS data with multi-omics datasets to identify novel genes for alcohol use disorder and link them to neurodegenerative diseases.

This study shows that DcpS, an mRNA-decapping enzyme, is critical for neuronal development and that its mutation leads to developmental delay and intellectual disability.

This study xenotransplants human PSC-derived microglia into mice to create a chimeric brain model that retains human microglial identity and exhibits disease-relevant responses.

This study examines how the N40D variant of the mu-opioid receptor affects synaptic function in human neurons, showing variant-specific effects on inhibitory transmission.

The paper develops a method to improve clustering and differential expression analysis in mixed-species scRNA-seq data by aligning reads to species-specific genomes and translating gene symbols.

This study shows that OLIG2 overexpression in Down syndrome patient-derived iPSCs leads to abnormal neurodevelopmental phenotypes, including impaired recognition memory in chimeric mice.

This study uses optogenetic stimulation and transcriptome profiling to show enhanced functional and transcriptomic changes in paralyzed mouse whisker pad muscles after denervation.

The paper shows that ATP depletion causes oxidative stress, activates ATM, which phosphorylates NRF1 to enhance mitochondrial function, and that ATM deficiency impairs ATP recovery in energy-demanding cells.

This study identifies Nudt12 as a new deNADding enzyme distinct from DXO, showing it targets NAD-capped RNAs and links these RNAs to cellular metabolism.