Mike A. Nalls

This study conducts ancestry-specific and multi-ancestry GWAS of restless legs syndrome, identifying shared and ancestry-specific risk loci across African, Latin American, and European populations.

This study profiles proteomic changes in iPSC-derived neurons exposed to Aβ42A, revealing AD-related pathways and validating findings in postmortem AD brain tissue.

ProtPipe2 provides a unified framework for downstream proteomics analysis across mass spectrometry, Olink, and SomaScan platforms, enabling consistent workflows and reusable analyses.

The paper identifies CypA as a molecular barrier preventing lentivirus from Eastern chimpanzees from infecting humans, due to its restriction of replication through a unique capsid feature.

The paper extends the OMOP Common Data Model to support multimodal data integration across AMP projects by adding extension tables and a CDE Registry.

SALRR provides a scalable platform for long-read RNA-seq analysis, identifying novel splice variants in human brain tissue.

This study uses long-read sequencing to map transposable element variation in human brain tissue, revealing regulatory and epigenetic effects across cell types and ancestries.

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 paper uses long-read sequencing to analyze haplotype-resolved DNA methylation at the APOE locus in brain samples, identifying allele-specific methylation patterns linked to Alzheimer's disease risk.

This study uses snRNA-seq to analyze age-related transcriptional changes in four brain regions across young and aged individuals, identifying region-specific age-associated genes and biological processes.

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

The paper generates and characterizes a custom genome assembly for the KOLF2.1J iPSC line to improve genomic analysis accuracy compared to standard references.

This study identifies genetic variants associated with Alzheimer's disease and frontotemporal dementia in admixed Latin American populations using whole-genome sequencing and ancestry analysis.

CNV-Finder uses deep learning to detect copy number variations from array data, improving accuracy and reducing manual workload for downstream analyses.

CARDBiomedBench evaluates LLM performance in biomedical research using a benchmark focused on neurodegenerative diseases, revealing significant limitations in response quality and safety.

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

The paper identifies FGF14 GAA repeat expansions in Parkinson's disease using long-read sequencing and finds they occur in both patients and controls.

The paper integrates GWAS meta-analysis with human brain cell mapping to identify genetic loci and cell types involved in tinnitus, implicating the amygdala and midbrain.

MoVUS, a random forest model, classifies variants of uncertain significance in Alzheimer's and neurological disorders with high accuracy, prioritizing potentially pathogenic variants.

The paper develops epigenetic clocks using long-read DNA methylation data from diverse ancestries, showing improved aging predictions and identifying ancestry-specific aging pathways.

The paper identifies BORC as a modifier of TDP-43 protein levels in neurons, showing lysosome transport is required for TDP-43 turnover.

This paper analyzes genetic variation in Parkinson's disease across multiple ancestries, revealing ancestry-specific patterns and highlighting the importance of diverse populations in genetic research.

This study compares polygenic risk scores for Parkinson's disease across seven ancestries, finding varying predictive accuracy and highlighting the need for ancestry-specific models.

The paper investigates the biological impact of GBA1 mutations using multi-omics in isogenic iPSC lines, finding limited overlapping results across cell types and suggesting RNA-based quantitation may not be optimal for characterizing GCase mechanisms.

The paper profiles HLA immunopeptidomes and interactomes in microglia, identifying disease-associated epitopes and their interactions.

The paper profiles proteome and phosphoproteome dynamics during neuronal differentiation of the KOLF2.1J iPSC line, revealing distinct molecular signatures and kinase activity changes.

The paper investigates how endemic viral infections alter the neuronal proteome and links these changes to neurodegenerative disease pathways.

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 uses long-read sequencing to identify structural variants and their impacts on gene expression and methylation in diverse human brain samples.

The paper identifies a non-coding risk variant in GBA1 associated with Parkinson's disease in African ancestry populations, showing it disrupts splicing and reduces glucocerebrosidase activity.