Regina Hertfelder Reynolds

The paper identifies TP53 and RB1 wild-type status as predictors of cytarabine sensitivity in gliomas using CRISPRi screening and machine learning analysis.

The paper identifies a splice variant-dependent localization of PMCA2 to lysosomes and links it to neurodegenerative diseases.

The paper identifies splicing dysregulation in Parkinson's disease linked to TDP-43 loss of function and shows its association with genetic mutations and cellular models.

The paper introduces a contrastive fine-tuning method for single-cell foundation models to detect subtle transcriptomic changes in Perturb-seq data, outperforming traditional differential expression methods.

The paper shows that astrocytic RNA editing via ADAR1 modulates immune responses to alpha-synuclein, contributing to neuroinflammation in Parkinson's disease.

The paper investigates how the 17q21.31 locus influences Parkinson's disease through KANSL1 activity, showing haplotype-specific effects on key biological processes.

This study compares molecular and cellular signatures of Parkinson's disease and Parkinson's disease with dementia using single-nuclear transcriptomics, finding distinct gene expression patterns and biological pathways.

The paper examines mis-splicing across human introns, tissues, and age using RNA-sequencing data, finding correlations with spliceosome components and age-related neurodegenerative disease genes.

This study uses bulk and single nuclear RNA-sequencing to analyze transcriptomic changes in repeat expansion ataxias, revealing distinct non-neuronal cell type-specific disease signatures across the human brain.

The paper shows ancestry-specific gene expression in monocytes mediates neurodegenerative disease risk through innate immune cell expression of neurodegeneration-related genes.

The paper shows that sequencing ambiguity between GBA1 and its pseudogene GBAP1 affects transcriptomic analysis, revealing non-lysosomal functions in the brain and widespread annotation inaccuracies.

The paper investigates ligand-receptor interactions (LRIs) in neurological diseases and finds that 96.8% of disease-associated LRIs are interconnected, highlighting their role in disease comorbidity and potential drug targets.

This study identifies six novel genetic loci associated with Parkinson's disease mortality and motor progression using genome-wide survival analysis.

This study identifies genetic variants associated with motor progression in Parkinson's disease using GWAS and functional analysis.

The paper investigates the regulatory role of the NSL complex in Parkinson's disease by analyzing gene expression and regulatory networks in brain tissues.

The paper identifies local genetic correlations between neurodegenerative and neuropsychiatric diseases using LAVA, revealing shared genomic regions and potential therapeutic targets.

This study investigates the role of Neanderthal introgression and natural selection in the heritability of neurodegenerative diseases and finds no significant contribution from either.

The paper describes a virtual hackathon event that brought together early career scientists to develop tools for Parkinson's disease research using open science principles.

This study identifies regional genetic correlations between neurodegenerative diseases and immune-related traits using sc-eQTLs and GWAS data, revealing immune-mediated risk loci.

This study identifies APOE-ε4 and LRP1B as genetic risk factors for Parkinson's disease dementia using genome-wide survival analysis in 3,964 PD cases.

The paper shows that a significant portion of gene expression regulation in the human brain occurs post-transcriptionally in the cytoplasm, particularly for synaptic genes.

ggtranscript is an R package that visualizes and compares transcript isoforms using ggplot2, offering flexibility and ease of use for analyzing long-read sequencing data.

This study identifies five RBD risk loci through genome-wide association and finds differential expression of SNCA-AS1 and SCARB2 in brain regions.

The paper identifies microglial activation as a factor contributing to cortical thinning in epilepsy by integrating neuroimaging and gene expression data.

This study uses transcriptomic profiling to identify common and distinct molecular features across Lewy Body diseases, highlighting RNA splicing dysregulation and potential therapeutic targets.

The paper identifies 38 genes regulating a-synuclein cell-to-cell transfer using an siRNA screen and shows genetic overlap with Parkinson's disease.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

This paper introduces dasper, an R/Bioconductor package that detects pathogenic splicing events from RNA-sequencing data with higher accuracy than existing methods.

The paper introduces GMSCA, a tool to enhance gene multifunctionality predictions in bulk-tissue co-expression networks, revealing new roles for genes like SNCA in oligodendrocytes.

The paper identifies a genetic variant in OAS1 linked to increased Alzheimer's disease risk and severe COVID-19 outcomes, showing its role in microglial inflammation.