Mathias Toft

Haploinsufficiency, de novo and biallelic missense variants in CSMD2 are associated with neurodevelopmental disorders

The paper identifies rare variants in CSMD2 associated with neurodevelopmental disorders, showing both recessive and dominant inheritance patterns and functional impairments.

Bivariate GSA-MiXeR: A Novel Tool for Functional Genomic Analyses Implicates Diverse Neural Cell Types for Psychiatric and Neurodegenerative Disorders

Bivariate GSA-MiXeR is a tool that models genetic correlations between two traits to identify genomic regions associated with psychiatric and neurodegenerative disorders using single-cell RNA sequencing data.

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.

DDIAS is a single-stranded DNA-binding effector of the TOPBP1-CIP2A complex in mitosis

The paper identifies DDIAS as a mitosis-specific DNA damage response protein that binds single-stranded DNA and is part of the TOPBP1-CIP2A complex, highlighting its role in protecting chromosome integrity during mitosis.

Evidence that Dmrta2 acts as a transcriptional repressor of Pax6 in murine cortical progenitors and identification of a mutation crucial for DNA recognition associated with microcephaly in human

This study shows Dmrta2 represses Pax6 in cortical progenitors and identifies a DNA-binding mutation linked to microcephaly in humans.

Genome-wide determinants of mortality and motor progression in Parkinson's disease

This study identifies six novel genetic loci associated with Parkinson's disease mortality and motor progression using genome-wide survival analysis.

Unveiling the Genetic Landscape of Basal Ganglia: Implications for Common Brain Disorders

This study identifies 72 genetic loci associated with basal ganglia volumes and finds significant genetic overlaps with Parkinson's disease, schizophrenia, and migraine.

Fine mapping of the HLA locus in Parkinson's disease in Europeans

This study fine maps the association between HLA genes and Parkinson's disease in Europeans, identifying specific amino acid variants in HLA-DRB1 that are protective against PD.

Investigation of Autosomal Genetic Sex Differences in Parkinsons disease

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

Fine-mapping of SNCA in REM sleep behavior disorder and overt synucleinopathies

This study identifies SNCA risk variants specific to RBD and overt synucleinopathies, finding distinct associations and opposite effects at the 3' end of SNCA.

Expanding Parkinson’s disease genetics: novel risk loci, genomic context, causal insights and heritable risk

Across 37,688 Parkinson's cases, 18,618 proxy-cases and 1.4M controls, 90 risk signals map to 78 loci (37 new); an 1805-variant polygenic score explains 26-36% of heritability.

Genetic modifiers of risk and age at onset in GBA associated Parkinson disease and Lewy body dementia

The paper identifies genetic modifiers of risk and age at onset in GBA-associated Parkinson disease and Lewy body dementia using large case-control datasets and genome-wide association studies.

Parkinson disease age of onset GWAS: defining heritability, genetic loci and a-synuclein mechanisms

This study conducts a GWAS to identify genetic determinants of Parkinson's disease age of onset, finding associations with SNCA, TMEM175, and GBA, and highlighting alpha-synuclein's role in disease onset.

Genome-wide association study of Parkinsons disease progression biomarkers in 12 longitudinal patients cohorts

This study identifies two genome-wide significant variants associated with Parkinson's disease progression and replicates known risk variants' effects on motor and cognitive decline.