Andrew S. McCallion

This study identifies ZC3H18 mutations that stabilize endogenous retroviral RNA, linking ERV RNA accumulation to oncogenesis in zebrafish and human cell lines.

This study shows that disrupting a Snca enhancer in mice reduces Snca expression and protects against Parkinson's disease pathology and motor impairments.

This paper demonstrates the use of CRISPRi/a in zebrafish to modulate gene expression and study gene function in pigmentary and growth phenotypes.

The paper tests a schizophrenia-associated variant near TSNARE1 and ADGRB1 for functional effects, showing allele-specific transcriptional differences and pathway enrichment in synaptic processes.

This study evaluates the mouse neural precursor cell line SN4741 as a proxy for midbrain dopaminergic neurons using genomic techniques and finds it lacks key dopaminergic markers and chromatin features.

The paper uses mouse chromatin data to identify heritability enrichment in schizophrenia and other diseases, revealing contributions from specific cortical layers and cell types.

The paper generates a high-quality hybrid reference genome for the eHAP1 haploid cell line using long and short reads, identifies structural variants, and highlights their potential regulatory impact.

The paper identifies Parkinson's risk variants in a SNCA enhancer by analyzing open chromatin in mouse dopamine neurons and validates their function in zebrafish and mice.

The paper screens Hsa21 gene overexpression in zebrafish to study dosage-sensitive effects on early development and identify potential contributors to Down syndrome pathology.

The paper uses single-cell RNA-seq to identify candidate genes for sporadic Parkinson’s disease by comparing DA neuron subpopulations and integrating with GWAS data.