Rahul S. Desikan

C9orf72 gene networks in the human brain correlate with cortical thickness in C9-FTD and implicate vulnerable cell types

The paper identifies a C9orf72 gene network correlated with cortical thickness in C9-FTD and implicates vulnerable cell types.

Linkage Disequilibrium and Heterozygosity Modulate the Genetic Architecture of Human Complex Phenotypes

The paper extends a Gaussian mixture model to account for linkage disequilibrium and heterozygosity in GWAS summary statistics, improving estimates of genetic quantities like heritability.

Beyond SNP Heritability: Polygenicity and Discoverability of Phenotypes Estimated with a Univariate Gaussian Mixture Model

The paper estimates polygenicity and discoverability of causal SNPs for human traits using a univariate Gaussian mixture model applied to GWAS summary statistics.

Image processing and analysis methods for the Adolescent Brain Cognitive Development Study

The paper describes neuroimaging processing methods for the ABCD Study to extract brain phenotypes from multimodal imaging data.

Sex-dependent polygenic effects on the clinical progressions of Alzheimer’s disease

This study demonstrates sex-dependent polygenic effects on Alzheimer’s disease progression by using polygenic hazard scores, showing stronger associations with clinical outcomes than traditional polygenic risk scores.

Partitioning the genetic architecture of amyotrophic lateral sclerosis

This study identifies genetic variants and networks associated with ALS using GWAS data, revealing novel loci and functional sub-networks linked to disease.

Lipid associated polygenic enrichment in Alzheimer’s disease

The paper identifies genetic variants associated with Alzheimer's disease and cardiovascular risk factors, showing lipid-related enrichment and pleiotropy beyond APOE.

CXCR4 involvement in neurodegenerative diseases

The paper identifies a genetic variant near CXCR4 associated with increased risk for PSP and PD, showing dysregulation of CXCR4 and microglia-related genes in neurodegenerative diseases.

Genetic meta-analysis identifies 9 novel loci and functional pathways for Alzheimers disease risk

This study identifies 9 novel genetic loci and 215 potential causative genes associated with Alzheimer's disease risk through a large genome-wide association analysis.

Immune-related genetic enrichment in frontotemporal dementia

This study identifies genetic overlaps between frontotemporal dementia and immune-mediated diseases, finding strong enrichment with rheumatoid arthritis and moderate enrichment with other immune conditions.

Polygenic hazard score: an enrichment marker for Alzheimer’s associated amyloid and tau deposition

This study evaluates whether a polygenic hazard score (PHS) can enhance the prediction of amyloid and tau deposition and progression to Alzheimer’s dementia when combined with biomarkers in nondemented individuals.

Personalized genetic assessment of age associated Alzheimers disease risk

This paper develops and validates a polygenic hazard score to predict age-specific Alzheimer's disease risk using genetic data from multiple cohorts.