Allison Ann Dilliott

This study identifies ARPP21 as a TDP-43-independent aggregation pathway in ALS, showing its role in forming non-ubiquitinated aggregates and promoting intercellular propagation.

This paper conducts a meta-analysis to determine the lower limit of ATXN2 repeat expansions associated with ALS risk, finding that ≥30 repeats define significant risk.

The paper identifies novel disease-associated target genes by analyzing transcriptional pathways linked to definitive ALS genes using RNA sequencing and single-nuclei transcriptomics.

This study identifies pathogenic and intermediate repeat expansions in Parkinson's disease and parkinsonism across 11 ancestries, highlighting ATXN2's role in PD risk and ancestry-specific patterns.

This study analyzes POLG variants in Parkinson's disease across multiple ancestries and finds rare pathogenic variants in some cases, suggesting potential contributions to PD in isolated instances.

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

The paper introduces a genome browser for Parkinson's disease genomic data, integrating WGS and CES samples with variant annotations and ancestry stratification.

This study identifies rare copy number duplications in protein coding regions as risk factors for essential tremor, but does not reliably identify specific susceptibility genes.

The paper identifies MLN4924 as a compound that improves cell viability in TDP-43 mutant motor neurons by targeting NEDD8-activating enzyme.

Ensemblex improves accuracy in genetic demultiplexing of pooled scRNA-seq samples by combining four algorithms with accuracy weighting.

The paper introduces the Neurodegenerative Disease Knowledge Portal (NDKP), an open-science platform aggregating genomic datasets for neurodegenerative diseases to enable collaborative analysis and discovery.

The paper investigates oligogenic risk in ALS using genome sequencing data, finding that multiple rare variants in known ALS genes increase disease risk but not clinical outcomes.

Segpy is a user-friendly pipeline for variant segregation analysis that supports single-family, multi-family, and population-based datasets to evaluate genetic variant co-segregation with disease.

The paper describes how multidisciplinary VUS Rounds help classify and manage variants of uncertain significance in neurogenetics patients.

This study evaluates REVEL and CADD in predicting pathogenic variants in ALS-associated genes, finding REVEL has a clear threshold while CADD lacks accuracy for variants of uncertain significance.

The paper characterizes proteomic and transcriptomic features of missense variants in ALS genes and identifies enriched structural and functional properties associated with pathogenicity.

The paper evaluates the variability in ALS clinical genetic testing panels globally, finding inconsistent gene inclusion and potential diagnostic challenges.

This study performs sex-stratified RNA-seq analysis of TBI-affected brain regions and identifies female-specific gene modules linked to dementia in TBI donors.

This study examines the relationship between white matter hyperintensities, cortical thickness, and empathy in neurodegenerative and cerebrovascular diseases, finding associations with specific brain regions and demographic factors.

This study identifies 690 candidate ALS genes using a hierarchical Bayesian model, highlighting genetic convergence on the distal axon and functional significance in motor neurons.