Ethan G. Geier

Deciphering Distinct Genetic Risk Factors for FTLD-TDP Pathological Subtypes via Whole-Genome Sequencing

This study identifies genetic risk factors for FTLD-TDP subtypes using whole-genome sequencing and meta-analysis across multiple cohorts.

Expansion of highly interferon-responsive T cells in early-onset Alzheimer's disease

The paper identifies an expansion of interferon-responsive T cells in early-onset Alzheimer's disease using single-cell RNA-sequencing and ddPCR data.

Radiogenomics of C9orf72 expansion carriers reveals global transposable element de-repression and enables prediction of thalamic atrophy and clinical impairment

The paper investigates C9orf72 expansion carriers using radiogenomics to link peripheral blood transcriptomics with thalamic atrophy and clinical impairment, finding global transposable element de-repression and associations between C9orf72 expression and disease severity.

Single-cell RNA-seq reveals alterations in peripheral CX3CR1 and nonclassical monocytes in familial tauopathy

The paper uses scRNA-seq to analyze peripheral blood mononuclear cells from MAPT carriers and controls, finding reduced CX3CR1 and nonclassical monocytes associated with tau pathology.

TSC1 loss-of-function increases risk for tauopathy by inducing tau acetylation and preventing autophagy-mediated tau clearance

This study identifies TSC1 loss-of-function as a risk factor for tauopathies by promoting tau acetylation and impairing autophagy-mediated tau clearance.

Non-Coding and Loss-of-Function Coding Variants in TET2 are Associated with Multiple Neurodegenerative Diseases

The paper identifies rare variants in TET2 associated with early-onset Alzheimer's disease and frontotemporal dementia, highlighting both coding and non-coding variants as risk factors.

Genome sequencing for early-onset dementia: high diagnostic yield and frequent observation of multiple contributory alleles

Genome sequencing for early-onset dementia identified genetic variants in 50% of patients, including pathogenic variants and moderate penetrance alleles, supporting an oligogenic model.

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.