Peter Heutink

The paper identifies the GCH1 p.Ser80Asn variant as a rare, East Asian-enriched risk factor for Parkinson's disease with increased odds ratio and specific clinical features.

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.

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 shows that MS4A4A and MS4A6A negatively regulate TREM2 and microglial function in Alzheimer's disease, suggesting they are potential drug targets.

The paper investigates how the H1/H1 risk allele at the MAPT locus increases susceptibility to mild chronic oxidative stress in iNeurons and identifies FDA-approved compounds that rescue this vulnerability.

The paper uses CRISPR screens and Perturb-seq to identify gene programs and functional relationships in AD GWAS risk genes related to lipid and lysosomal pathways.

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.

The paper investigates DNA methylation changes in FTLD risk genes across different subtypes and finds shared hypomethylation in STX6 and other loci, with significant effects in PSP cases.

This study identifies Piccolo's role in astrocytic ECM secretion, showing its impact on synapse formation and neuronal network activity in PCH3.

The paper shows that an ATTTC repeat insertion in an Alu element enhances a DAB1 enhancer, leading to neuronal dysfunction in SCA37.

This study identifies miR-129-5p as a deregulated microRNA in FTD patients, showing its role in astrocyte dysfunction and neurodegeneration.

The paper reanalyzes exome sequencing data from rare disease cases to identify previously undetected copy number variants, resulting in diagnoses for 51 families and partial explanations for 34 individuals.

This paper combines two global monogenic Parkinson's disease initiatives to create a comprehensive cohort and infrastructure for studying multi-ancestry genetic factors and disease expression.

The paper identifies transcription factors that regulate β-glucocerebrosidase activity, showing that USF2 and ONECUT2 have opposing effects on GCase levels and function.

The paper presents a multi-omics dataset for genetic subtypes of frontotemporal dementia to identify molecular mechanisms disrupted in the disease.

This study examines epigenetic age acceleration in FTLD patients using DNA methylation clocks in blood and brain tissues, finding significant acceleration in blood samples of FTD and PSP patients.

This study conducts a multi-ancestry GWAS meta-analysis of Alzheimer's disease, identifies two novel loci, and assesses polygenic risk score generalizability across populations.

This study identifies DNA methylation changes in FTLD subtypes, finding OTUD4 as a key gene with consistent expression dysregulation across subtypes.

The paper presents a multi-layered molecular dataset from iPSC-derived dopaminergic neurons to model Parkinson's disease genetic risk and provides a data browser for accessing these resources.

The paper establishes a protocol for whole-genome sequencing to identify genetic causes of Parkinson's disease, focusing on monogenic variants and their clinical implications.

This study identifies ATXN3's role in regulating neuronal mRNA splicing and Tau isoform ratio through deubiquitylation of splicing factors, linking it to SCA3 pathology.

The paper identifies three H1 sub-haplotypes at the 17q21.31 locus associated with Parkinson's disease risk and links them to LRRC37A/2 expression in astrocytes.

The paper constructs genome-wide CRISPR libraries for gene ablation, activation, and silencing with high efficacy and reports novel gene regulators and modifiers.

This paper introduces a 3D neuro-microphysiological system with microelectrodes for high-throughput electrical recording and analysis of human neurons.

This study investigates sex-specific genetic factors in Parkinson's disease using GWAS but finds no significant genetic differences between male and female cases.

The paper identifies human-lineage-specific genomic elements, called CNCRs, and shows their enrichment in neurological disease genes and APOE intron-3 retention transcripts in Alzheimer's disease.

This paper identifies 54 novel regulators of PrPC expression through a genome-wide RNA interference screen, with 9 confirmed by CRISPR interference, revealing potential therapeutic targets for prion diseases.

Scaden is a deep learning model for cell deconvolution that outperforms existing methods and works across bulk RNA-seq, microarray, and human/mouse tissue data.

The paper functionally annotates human long non-coding RNAs by systematically knocking down 285 lncRNAs and analyzing molecular phenotypes using CAGE sequencing.

The paper identifies disease-relevant regulatory loci in human basal ganglia using genomic and transcriptomic data from 117 brains, highlighting splicing eQTLs and ASE analyses as sources of cell-specific regulatory information.