Aine Fairbrother-Browne

The paper assembles and characterizes 2,110 human centromeres, revealing novel haplotypes, mobile element insertions, and mutation rate variation across chromosomes.

This paper introduces a non-invasive imaging framework combining qMRI and SRT to infer molecular features in neurodegeneration.

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 identifies microglial activation and alpha-synuclein oligomers as drivers of early neuroinflammation in Parkinson's disease using transcriptomic and aggregate profiling in early-stage brain samples.

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 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.

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.

The paper examines mitochondrial-nuclear gene relationships in human brain tissue, finding cell-type specific variations and disruptions in Alzheimer’s disease.