Julie H. Williams

New Human IPSC Models of Late-onset Alzheimer's Disease Polygenic Risk Identify Multiple Impairments of Microglial Function

This study uses human iPSC-derived microglia with high polygenic AD risk to identify functional impairments in immune response, mitochondrial function, and amyloid-beta uptake.

Integrated QTL mapping and CRISPR screening in pooled iPSC-derived microglia reveals genetic drivers of neurodegenerative risk

The paper integrates QTL mapping and CRISPR screening in iPSC-derived microglia to identify genetic drivers of neurodegenerative risk by linking variants to phenotypes and gene expression.

Analysis of exome sequencing data implicates rare coding variants in STAG1 and ZNF136 in schizophrenia

This study identifies rare coding variants in STAG1 and ZNF136 associated with schizophrenia using exome sequencing data from 28,898 cases and 103,041 controls.

Uncoupling of synaptic loss from amyloid burden by an Alzheimer's disease protective variant of PLCγ2.

This study identifies a protective PLCG2 variant that preserves synaptic integrity and reduces microglial synapse engulfment in Alzheimer's disease, independent of amyloid burden.

Domain mapping of disease mutations supports genetic testing of specific SORL1 variants in Alzheimer's Disease

The paper identifies high-priority missense variants in SORL1 associated with increased Alzheimer's Disease risk and earlier onset, suggesting clinical counseling considerations for carriers.

Polygenic resilience scores capture protective genetic effects for Alzheimers disease

This study identifies genetic resilience factors for Alzheimer's disease by constructing polygenic resilience scores that reduce genetic risk penetrance and correlate with polygenic risk scores in unaffected individuals.

Analysis of Alzheimer's disease Polygenic Risk Scores using RNA-sequencing provides further novel biological pathways

The paper analyzes Alzheimer's disease polygenic risk scores using RNA-sequencing to identify novel biological pathways and common mechanisms between case/control classification and PRS associations.

Genome-Wide Meta-Analysis of Late-Onset Alzheimer's Disease Using Rare Variant Imputation in 324,809 Subjects Identifies Novel Rare Variant Locus NCK2: The International Genomics of Alzheimer's Project (IGAP)

Alzheimer's genetic risk effects on cerebral blood flow are spatially consistent and proximal to gene expression across the lifespan

This study shows that Alzheimer's genetic risk reduces cerebral blood flow consistently across age groups and is linked to nearby gene expression.

Monocyte-specific changes in gene expression implicate LACTB2 and PLIN2 in Alzheimer's disease.

The paper identifies LACTB2 and PLIN2 as novel AD risk genes through monocyte-specific transcriptome-wide association study.

The Alzheimer's disease protective P522R variant of PLCG2, consistently enhances stimulus-dependent PLCγ2 activation, depleting substrate and altering cell function.

This paper identifies a protective PLCG2 variant in Alzheimer's disease, showing enhanced PLCγ2 activation and functional changes in immune cells.

The Dementias Platform UK (DPUK) Data Portal

The DPUK Data Portal provides secure access to cohort data for dementia research, supporting multi-modal analyses and collaborations across multiple institutions.

Common variants in Alzheimer's disease: Novel association of six genetic variants with AD and risk stratification by polygenic risk scores

This paper reports six novel genetic variants associated with Alzheimer's disease risk and demonstrates the utility of polygenic risk scores for risk stratification and age at onset prediction.

Gene-Based Analysis in HRC Imputed Genome Wide Association Data Identifies Three Novel Genes For Alzheimer’s Disease

The paper uses a novel gene-based analysis approach to identify three novel genes associated with Alzheimer’s disease using genome-wide association data.

Molecular Dynamics simulations of Alzheimer's variants, R47H and R62H, in TREM2 provide evidence for structural alterations behind functional changes

The paper uses molecular dynamics simulations to show that Alzheimer's-associated TREM2 variants R47H and R62H cause structural changes, with R47H having a larger impact on the protein's binding loop.

Increased posterior default mode network activity and structural connectivity in young adult APOE-ε4 carriers: a multi-modal imaging investigation

The paper investigates structural and functional brain differences in young adult APOE-ε4 carriers using multimodal imaging, finding reduced microstructural diffusion and increased activity in the posterior default mode network.

A common haplotype lowers PU.1 expression in myeloid cells and delays onset of Alzheimer’s disease

This study identifies a haplotype lowering PU.1 expression in myeloid cells that delays Alzheimer’s disease onset by affecting gene expression and function.