Gerard D. Schellenberg

The paper systematically adjudicates genetic evidence for Alzheimer's disease and related dementias, identifying 111 high-confidence loci through a tiered framework applied to large-scale genome-wide studies.

This paper performs a large-scale GWAS meta-analysis of neuropathologic lesions in Alzheimer's disease and related dementias, identifying both known and novel genetic associations.

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.

The paper constructs a large-scale LD and genotype imputation reference panel using whole-genome sequencing data from 2,680 Indian participants, improving imputation accuracy and polygenic risk score performance.

The paper identifies EGFR as a potential therapeutic target in Alzheimer's disease by linking a risk variant to increased EGFR expression in brain cell types through genomic analysis and CRISPRi validation.

This paper develops an APOE-independent polygenic risk score for Alzheimer's disease that shows associations with cognitive decline and neuropathological markers across diverse populations.

This paper identifies genome-wide pleiotropic loci linking blood pressure and cognitive performance measures using longitudinal data from multiple cohorts.

The paper develops an imputation panel integrating structural variants for Alzheimer's disease and related dementias, improving genotype imputation and identifying new genetic associations.

The paper identifies AD-associated genes in South Asians using whole-genome sequence data and variant analysis, finding associations for APOE, PICALM, and TSPOAP1 with cognitive function.

The paper identifies sex-specific genetic loci associated with memory, executive functioning, and language performance in older adults through genome-wide meta-analyses.

The paper provides a whole-genome sequencing dataset of 36,361 ADSP participants, including variant annotations, phenotypes, and a linkage disequilibrium panel for Alzheimer's Disease research.

The paper assesses the role of short tandem repeat (STR) expansions in Alzheimer's disease risk by analyzing genome-wide STR data from 2,981 individuals.

The paper investigates the association of common and rare variants with Alzheimer's Disease in 13,371 diverse individuals using whole-genome sequencing, identifying significant genetic loci and population-specific associations.

NIAGADS provides a national data repository for Alzheimer's Disease and related dementia genetics and genomics research, hosting genome and exome sequence data from over 209,000 samples.

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 maps GWAS variants associated with late-onset Alzheimer's disease to functional effects in microglial cells, identifying RTFDC1 as a novel effector gene at the CASS4 locus.

This study uses whole-genome sequencing to identify new genetic loci and structural variants associated with progressive supranuclear palsy, including novel signals in APOE and H1/H2 haplotype region variants.

This study analyzes 2,762 whole genome sequences from diverse Indian populations to reconstruct 50,000 years of evolutionary history, revealing major admixture events and archaic hominin gene flow.

The paper introduces GenomicsDB, a public knowledgebase for Alzheimer's disease genetic datasets and annotations, enabling data sharing and discovery through harmonized GWAS summary statistics and functional annotations.

The paper identifies structural variations in whole-genome sequencing data from 16,905 ADSP subjects and finds associations with Alzheimer's disease and related endophenotypes.

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.

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.

The paper identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimer's Disease using exome sequencing data from 32,558 individuals.

This paper presents a strategy to jointly analyze 20,504 whole-exome sequencing samples from nine studies, generating high-quality variant calls and addressing batch effects from different capture kits.

This study performs a meta-analysis of GWAS to identify new genetic loci associated with all-cause and vascular dementia, revealing shared and distinct risk factors.

The paper evaluates deletion calling accuracy using two pipelines on ADSP whole genome family data, finding Scalpel better for small deletions and Parliament for larger ones, with 78.1% of predicted deletions validated by Sanger sequencing.

POKEMON improves statistical power for detecting associations between rare missense variants and phenotypes by analyzing their spatial distribution on protein structures.

This paper identifies PPP2CB and C4B as key genes linked to Alzheimer's disease through a systems biology approach, showing their association with tau pathology and complement pathway activation.