Marc Hulsman

Fine-mapping HLA-II haplotypes in Alzheimer's disease and healthy longevity reveals distinct associations with microglial HLA-II load and neuropathology

Increased burden of endogenous viral elements in Alzheimer's Disease compared to cognitively healthy centenarians

This study compares endogenous viral elements in Alzheimer's Disease patients and cognitively healthy centenarians using long-read sequencing, finding higher EVE burden in AD patients.

snpXplorer: haplotype-block representation of GWAS signals for integrated variant and cross-trait interpretation

Long-read sequencing reveals hidden structural complexity within Alzheimers disease-associated GWAS loci

The paper uses long-read sequencing to uncover structural complexity in Alzheimer's disease GWAS loci, showing that lead SNPs often miss key regulatory variants.

TMEM106B haplotypes show distinct associations with tau and TDP-43 pathologies in the aging brain

The paper examines TMEM106B haplotypes and their associations with tau and TDP-43 pathologies in aging brains using integrated multi-omics data.

Soluble SORL1 in cerebrospinal fluid as a marker for functional impact of rare SORL1 variants.

The paper measures soluble SORL1 (sSORL1) in CSF to assess functional impact of rare SORL1 variants, finding lower sSORL1 in carriers of pathogenic variants.

Genomic analyses reveal new insights into Alzheimer's disease

This study identifies 118 new genetic loci associated with Alzheimer's disease across diverse ancestries and discovers 48 novel risk loci, including those enriched in neuronal cell types.

Increased Genetic Protection Against Alzheimer's Disease in Centenarians

This study constructs a polygenic protective score for Alzheimer's disease and finds stronger genetic protection against AD in centenarians compared to non-longevity individuals.

MotifScope: a multi-sample motif discovery and visualization tool for tandem repeats

MotifScope identifies and visualizes tandem repeats in population context using a de novo k-mer approach, outperforming existing tools in motif discovery and representation.

Cognitively healthy centenarians are characterized by lower frequencies of six disease-associated HLA alleles

The paper identifies six HLA alleles associated with reduced likelihood of becoming a cognitively healthy centenarian, revealing pleiotropic effects on disease susceptibility and longevity.

TREM2 Risk Variants with Alzheimer Disease Differ in Rate of Cognitive Decline

This study examines whether TREM2 risk variants in Alzheimer's disease patients lead to distinct clinical phenotypes, finding no baseline differences but faster cognitive decline in carriers.

Genetic Variants that Modulate Alzheimer's Disease Risk Deregulate Protein-Protein Correlations in the Gyrus Temporalis Medius

The paper identifies genetic variants associated with protein abundance and altered protein-protein correlations in the Gyrus Temporalis Medius in Alzheimer's Disease patients.

Fine-mapping reveals four TMEM106B haplotypes associated with neurodegenerative risk and preserved cognition at extreme age

Characterising tandem repeat complexities across long-read sequencing platforms with TREAT and otter

The paper introduces otter and TREAT for accurate tandem repeat genotyping across long-read sequencing platforms, showing improved accuracy and identifying pathogenic expansions and disease associations.

Exome analysis of 22,319 individuals links extremely rare CNVs and 22q11.21 dosage to Alzheimer's risk

The paper analyzes exome data from 22,319 individuals to identify rare CNVs and 22q11.21 dosage as risk factors for Alzheimer's disease.

A Novel Susceptibility Locus in NFASC Highlights Oligodendrocytes and Myelination in Progressive Supranuclear Palsy Pathology

The paper performs a GWAS on PSP in the Iberian population, replicates known risk variants, and identifies a novel locus in NFASC/CNTN2 associated with oligodendrocyte and myelination processes.

Non-microglial downregulation of PLCG2 impairs synaptic function and elicits Alzheimer disease-related hallmarks

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

Genetic Testing in patients with Dementia: A Data-Driven Clinical Decision Tree for Memory Clinics

This paper introduces a decision tree to improve the identification of dementia patients with pathogenic genetic variants by optimizing clinical selection criteria for genetic testing.

An AluYb8 retrotransposon characterises a risk haplotype of TMEM106B associated in neurodegeneration

The paper identifies an AluYb8 retrotransposon in a TMEM106B risk haplotype associated with neurodegeneration, linking it to age-related dysregulation and population-specific disease risk.

Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as novel risk factors for Alzheimers Disease

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.

The effect of Alzheimer's disease-associated genetic variants on longevity

This study examines how Alzheimer's disease-associated genetic variants influence longevity by analyzing their effects in centenarians and replicating findings in a parental-longevity GWAS.

snpXplorer: a web application to explore SNP-associations and annotate SNP-sets

snpXplorer is a web tool that explores SNP associations, annotates SNP sets, and compares GWAS results across traits.

Immune response and endocytosis pathways are associated with the resilience against Alzheimer's Disease

The paper identifies immune response and endocytosis pathways as associated with resilience against Alzheimer's Disease using polygenic risk scores across multiple cohorts.

The 100-plus Study of Dutch cognitively healthy centenarians: rationale, design and cohort description

The 100-plus Study characterizes Dutch centenarians with preserved cognitive health, finding associations between APOE alleles and mortality, and higher education and socio-economic status.

Centenarian Controls Increase Variant Effect-sizes by an average two-fold in an Extreme Case-Extreme Control Analysis of Alzheimer’s Disease

This study shows that using centenarians as extreme controls increases AD variant effect-sizes by two-fold, enabling replication in small samples.

Neuropathology and cognitive performance in centenarians

This study examines neuropathological hallmarks in centenarians' brains and their association with cognitive performance, finding that some pathologies correlate with lower cognitive test results.