Nigel M. Williams

The paper identifies distinct cytokine signaling networks in mouse models of arthritis that mirror human RA synovial pathotypes, revealing molecular mechanisms underlying disease heterogeneity.

The paper identifies a DNA methylation module in the substantia nigra associated with depressive symptoms in Parkinson's disease.

This study shows that hPSC-derived medium spiny neurons (hPSC-MSNs) do not fully replicate the epigenetic and transcriptional features of authentic fetal MSNs, highlighting limitations in their fidelity.

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

This paper identifies three novel genetic variants associated with levodopa-induced dyskinesia in Parkinson's disease and confirms associations with ANKK1 and BDNF, while also finding gender, age at onset, and anxiety as risk factors.

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

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

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 identifies a tandem hexamer repeat in TCERG1 that modifies age at motor onset in Huntington's disease, explaining the effect of a previously associated SNP.

The paper identifies FAN1 nuclease activity as a modifier of CAG expansion and age at onset in Huntington's disease through exome sequencing and functional validation.

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 study examines the prevalence, timing, and functional impact of psychiatric, cognitive, and motor symptoms in Huntington's disease gene carriers using clinical data from a large cohort.

This study investigates the risk of Parkinson's disease associated with monoallelic PARK2 mutations, finding increased risk but highlighting confounding factors from biallelic mutations.

This paper identifies genetic variants associated with cognitive and motor progression in Parkinson's disease using GWAS and longitudinal cohort data.

This study investigates electrophysiological network changes in adults with neurodevelopmental risk copy number variants using MEG, finding decreased connectivity and network segregation differences.

The paper examines DNM3 and VAMP4 as genetic modifiers of LRRK2 Parkinson's disease, finding no significant effect of DNM3 on age at onset but a possible interaction between LRRK2 and VAMP4.

This study identifies cell-type-specific expression of dystonia-associated genes and links them to shared genetic and biological mechanisms with psychiatric disorders.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.

This paper integrates eQTL and Parkinson’s disease GWAS data to identify 11 disease genes and pathways involved in PD risk through colocalisation, TWAS, and network analysis.

This study connects Parkinson’s disease heritability to cell-type-specific gene regulation, finding enrichment in lysosomal genes in astrocytic and microglial subtypes rather than specific cell types or brain regions.

The paper investigates how genetic risk for schizophrenia and developmental delay relates to structural brain abnormalities in midline white matter.