Margaret Elizabeth Ross

This study identifies occludin's role as a dynein adaptor regulating vascular permeability and collateral angiogenesis through phosphorylation-dependent trafficking.

This study shows mitochondrial dysfunction and oxidative stress occur before neuronal loss in DRPLA patient-derived neurons, and phenylbutyrate treatment improves survival.

The paper introduces a spatial long-read sequencing method to study developmental splicing and polyadenylation changes in cortical layers and cell types, finding layer-specific and age-related regulatory patterns.

EpiPred improves STXBP1 variant interpretation, enabling precision genetic diagnoses and promoting access to targeted precision therapies.

This paper demonstrates that vitrification can effectively cryopreserve human cortical organoids, maintaining their structure, cell type composition, and function.

The paper analyzes pathogenic variant frequencies in the All of Us cohort by ancestry, revealing disparities and potential biases in genomic data.

The paper analyzes single-cell long-read mRNA isoform regulation across mouse brain regions, cell types, and development, finding pervasive isoform variability and cell-type specific splicing patterns.

The paper investigates how CyclinD2 regulates RGC neurogenesis in the mouse ciliary margin zone and shows its disruption in albinism leads to impaired binocular vision.

This study shows that Foxp1 loss increases angiogenesis and hypoxia in radial glia, altering their metabolic state and neurogenic capacity.

The paper identifies a Neandertal introgressed haplotype in the OAS1 gene associated with increased risk of severe COVID-19 and shows it impairs SARS-CoV-2 clearance through genetic regulation of OAS1 expression.

The paper introduces SnISOr-Seq, a method for single-nuclei isoform RNA sequencing, and finds distinct combination patterns of transcript elements in human brain cell types.

The paper uses systems biology analysis of whole-genome sequences from 298 SB case-control pairs to identify key pathways and genes associated with spina bifida risk.

This study shows that astrocytes from ASD patients induce repetitive behavior and impair memory when transplanted into healthy mice, suggesting a primary role for astrocytes in ASD.

The paper identifies brain-region specific splicing patterns at single-cell and spatial resolution in postnatal mice, revealing cell-type specific and region-specific isoform expression.

The paper introduces ScISOr-Seq, a method combining single-cell full-length cDNA amplification with short-read and long-read sequencing to identify isoforms in cerebellar cell types across thousands of cells.