Jack Humphrey

The paper identifies shared genetic and epigenetic mechanisms at the MOBP locus linking ALS and PSP, with distinct patterns from MSA.

The paper shows that using pathology-defined cell states improves reproducibility of transcriptomic signatures in ALS snRNA-seq studies compared to conventional case-control analyses.

This study shows the G2019S LRRK2 mutation alters transcriptomes of myeloid cells under proinflammatory conditions, affecting lipid metabolism and phagocytic function.

SingleBrain integrates snRNA-seq and genotype data to map cis-eQTLs across brain cell types, identifying novel disease-associated genes and causal variants.

The paper uses long-read transcriptomics to analyze human cortical cell types, revealing extensive isoform diversity in glial cells and identifying novel transcripts with disease-relevant splice variants.

The paper identifies cryptic splicing events (CEs) sensitive to TDP-43 loss and develops a composite score to detect TDP-43 pathology across tissues.

The paper identifies regulatory variants associated with Alzheimer's disease in human microglia using MPRA and highlights differences in variant activity between cell sources.

The paper identifies integrated stress response (ISR) signatures and proteostasis defects in monocytes from GBA1- and LRRK2-linked Parkinson's disease, linking them to immune dysfunction.

The paper identifies 38,731 edQTLs in 3,554 genes through a meta-analysis of A-to-I RNA editing in the human brain and links 24 GWAS loci for neurological disorders to edQTLs.

The paper maps genetic effects on splicing in 10,725 brain samples, identifying 68,358 cis-sQTLs and 97 loci where splicing mediates neurological disease risk.

The paper characterizes the human microglia responsome by analyzing gene expression in microglia exposed to various stimuli, identifying distinct responses and genetic interactions relevant to disease.

This study investigates the hnRNP network's role in FTLD-TDP subtypes using single-nuclei RNA-sequencing and immunohistochemistry, finding glial-specific RNA processing changes associated with different pathological subtypes.

The paper investigates DNA methylation changes in FTLD risk genes across different subtypes and finds shared hypomethylation in STX6 and other loci, with significant effects in PSP cases.

The paper analyzes RNA editing in myeloid cells under inflammatory stimulation, finding that C-to-U editing has a larger effect on proteome recoding compared to A-to-I editing.

The paper presents a long-read RNA-seq atlas of microglia isoforms, identifying novel isoforms and their associations with genetic risk loci in Alzheimer's and Parkinson's disease.

This study identifies six genetic loci associated with progressive supranuclear palsy, including a novel locus, and links them to oligodendrocytic dysfunction and C4A expression.

The paper identifies novel cryptic polyadenylation events induced by TDP-43 loss in ALS/FTD using bioinformatic methods and shows their potential disease relevance and impact on protein translation.

This study identifies DNA methylation changes in FTLD subtypes, finding OTUD4 as a key gene with consistent expression dysregulation across subtypes.

The paper identifies transcriptomic changes in monocytes from GBA mutation carriers with Parkinson's disease, highlighting dysregulated pathways related to alpha-synuclein degradation and lysosomal function.

The paper identifies regulatory mechanisms for 21 Alzheimer's disease risk loci in human microglia using transcriptome and chromatin accessibility profiling.

The paper analyzes the transcriptome of human microglia across brain regions, aging, and disease to identify genetic effects on gene expression and splicing, linking them to neurological disorders.

This study identifies JADE1 as a novel genetic factor in tauopathy through genome-wide association and functional validation in human and Drosophila models.

The paper identifies discordant mitochondrial gene expression patterns in PD monocytes and microglia, revealing distinct transcriptomic alterations in these myeloid cell types.

echolocatoR provides an automated pipeline for fine-mapping causal variants using summary statistics and integrates multiple functional genomic datasets.

This study shows that FUS-ALS mutants form cytoplasmic condensates that alter FMRP phase separation, leading to translation inhibition in motor neurons.

The paper shows that ALS/FTD risk variants in UNC13A increase sensitivity to TDP-43 depletion by promoting cryptic exon inclusion and protein loss.

This study identifies how ALS-causative FUS mutations disrupt RNA processing and autoregulation, with implications for broader ALS genetic interactions.

This study prioritizes Parkinson’s Disease genes using transcriptomic data, identifying 29 peripheral monocyte and 44 prefrontal cortex gene associations, including novel and known genes like MAPT.

This study identifies splicing variations in aging brains linked to Alzheimer’s Disease, finds genetic regulation of splicing, and highlights shared pathways with other neurodegenerative diseases.

The paper reanalyzes exome-sequenced schizophrenia cases and controls, finding significant enrichment of gene sets related to synaptic function, particularly involving FYN and NMDA receptor subunits.