David P. Murphy

This study identifies homozygous loss-of-function MDGA2 variants in individuals with developmental and epileptic encephalopathy, establishing MDGA2 as a novel gene for this condition.

This study investigates the association between COMT genetic variants and Parkinson's disease risk across diverse ancestries but finds no significant enrichment of COMT risk alleles in PD patients after multiple testing correction.

TX2P integrates transcriptomic and proteomic data to identify novel protein-coding transcripts and link RNA discoveries with protein function in epilepsy-associated 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 identifies novel SNCA transcripts in human dopaminergic neurons and demonstrates their impact on antisense oligonucleotide therapy for Parkinson's disease.

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

This study identifies biallelic mutations in CLRN2 as a cause of non-syndromic hearing loss through genetic analysis of a consanguineous family and functional validation in zebrafish and mouse models.

The paper analyzes global SARS-CoV-2 genome sequences to identify mutations linked to specific geographical regions, finding location-specific mutations that may affect viral behavior and pathogenesis.

The paper identifies common LRRK2 locus variation associated with survival in progressive supranuclear palsy, linking it to gene expression regulation and suggesting therapeutic implications for tauopathies.