Anthony J. Griswold

Epidermal Langerhans Cells Act as Neuroimmune Regulators of Pain and Itch

This study identifies Langerhans cells as immune-derived amplifiers of cutaneous sensory signaling and identifies semaphorin 7A as a mediator of LC-induced itch potentiation.

Genetic Architecture of Plasma Amyloid and Tau Biomarkers in the Amish

The paper identifies genetic variants associated with AD-related plasma biomarkers in the Amish cohort using GWAS and linkage analysis.

Evaluating sequence-to-function deep learning models for ancestry-stratified regulatory variant effect prediction using multi-ancestry blood eQTLs

This study evaluates two sequence-to-function models for predicting regulatory variant effects across ancestries using blood eQTL data, finding better performance for high-confidence variants in African American populations.

Pharmacogenomics of steroid-induced ocular hypertension: relationship to high-tension glaucomas and new pathophysiologic insight

The paper identifies 44 SNPs associated with steroid-induced ocular hypertension using a pharmacogenomic approach.

Local genetic correlation analysis of Alzheimer's disease and stroke implicates PHLPP1 as a shared locus in individuals of African ancestry

Enhanced Hi-C Capture Analysis reveals complex regulatory architecture at the PICALM-EED locus for Alzheimer Disease

This study uses eHiCA to identify regulatory interactions at the PICALM-EED locus, showing distinct chromatin interactions for SNPs within a segregating haplotype.

Multi-omics identification of activated T cells and spatial PD-1/PD-L1 signaling as biomarkers of diabetic foot ulcer healing

The paper identifies T cell activation and PD-1/PD-L1 signaling as biomarkers for diabetic foot ulcer healing using multi-omics approaches across multiple cohorts.

Multi-ancestry Transcriptome-Wide Association Study Reveals Shared and Population-Specific Genetic Effects in Alzheimer's Disease

This study performs a multi-ancestry transcriptome-wide association study (TWAS) to identify shared and population-specific genetic effects in Alzheimer's disease using RNA-seq and genotype data from multiple cohorts.

The Single Cell Landscape of the Human Vein After Arteriovenous Fistula Creation and Implications for Maturation Failure

This study uses single-cell RNA sequencing to analyze cellular and molecular changes in human veins after AVF creation, identifying inflammation and ECM deposition as key factors in AVF maturation failure.

Finding ancestry-specific chromatin architecture in Alzheimer's disease

The paper identifies ancestry-specific chromatin architecture differences in Alzheimer's Disease using Hi-C and ATAC-seq data from African and European ancestry individuals.

Cognitive dysfunction following brain trauma results from sex-specific reactivation of the developmental pruning processes

This study identifies a sex-specific reactivation of developmental pruning processes as a cause of cognitive dysfunction after brain trauma and shows the pathway is reversible.

A human ex vivo model of radiation-induced skin injury reveals p53-driven DNA damage signaling and recapitulates a TGFβ fibrotic response

This study develops a human ex vivo skin model that recapitulates radiation-induced DNA damage and fibrotic responses, identifying p53-driven pathways and potential therapeutic targets.

Heritability of Alzheimer-related plasma biomarkers in the Amish population

The paper estimates heritability of Alzheimer-related plasma biomarkers in the Amish population, finding moderate genetic contributions to biomarker variances.

Brain and Blood Transcriptome-Wide Association Studies Identify Five Novel Genes Associated with Alzheimer's Disease

Deleterious coding variation associated with autism is consistent across populations, as exemplified by admixed Latin American populations

This paper identifies 35 genome-wide significant ASD risk genes in admixed Latin American populations, showing consistency with European cohorts and supporting the universality of ASD biology.

African origin haplotype protective for Alzheimer's disease in APOEϵ4 carriers: exploring potential mechanisms

The paper identifies an African-origin haplotype that reduces AD risk in APOEε4 carriers by 75% and explores its molecular mechanisms through sequencing and methylation analysis.

Methylation Clocks Do Not Predict Age or Alzheimer's Disease Risk Across Genetically Admixed Individuals

The paper evaluates methylation clocks in genetically diverse populations and finds they are less accurate in admixed cohorts and fail to consistently predict age acceleration in Alzheimer's disease cases.

Gene expression and chromatin accessibility comparison in iPSC-derived microglia in African, European, and Amerindian genomes in Alzheimer's patients and controls.

A genome-wide association study in Peruvians suggests new risk loci for Alzheimer Disease

This study conducts a GWAS in Peruvians, identifying a novel AD risk locus in NFASC and replicating known loci, highlighting the importance of diverse populations in AD genetics.

An Alzheimer's disease risk variant in TTC3 modifies the actin cytoskeleton organization and the PI3K-Akt signaling pathway in iPSC-derived forebrain neurons

A Haptoglobin (HP) Structural Variant Alters the Effect of APOE Alleles on Alzheimer's Disease

The paper investigates how a haptoglobin structural variant modifies the effect of APOE alleles on Alzheimer's disease risk and age of onset in European-descent and African American populations.

Ancestry-related differences in chromatin accessibility and gene expression of APOE4 are associated with Alzheimer disease risk

The paper shows that ELA-associated increased chromatin accessibility and expression of APOE4 in astrocytes contribute to higher AD risk in APOE4/4 carriers.

Integrating de novo and inherited variants in over 42,607 autism cases identifies mutations in new moderate risk genes

The paper identifies 60 new moderate risk genes for autism by integrating de novo and inherited variants across 42,607 cases and 236,000 controls.

Converging evidence for differential regulatory control of APOEε4 on African versus European haplotypes

The paper identifies differential regulatory control of APOEε4 on African versus European haplotypes through enhancer activity and promoter interactions analyses.

Increased APOEϵ4 expression is associated with reactive A1 astrocytes and the difference in Alzheimer Disease risk from diverse ancestral backgrounds

The paper finds that APOEϵ4 expression is higher in European ancestry carriers and linked to A1 reactive astrocytes, potentially explaining higher AD risk in this group.

Linkage Analysis in Caribbean Hispanic Families with Puerto Rican Ancestry Idenitfies an Alzheimer Disease Locus on chromosome 9.

The paper performs linkage analysis in Caribbean Hispanic families to identify an Alzheimer's disease locus on chromosome 9, finding a region with multiple candidate genes.

coMethDMR: Accurate identification of co-methylated and differentially methylated regions in epigenome-wide association studies

coMethDMR identifies differentially methylated regions by first selecting co-methylated sub-regions and then testing their association with phenotypes using a mixed effects model.