Marco P. Boks

The paper maps gene expression and chromatin accessibility QTLs in fibroblasts from European and Latin American ancestries, finding high concordance and shared regulatory mechanisms.

The paper develops a DNA methylation predictor for C9orf72 repeat expansion carriers using EPICv2 data, achieving 98.6% accuracy and identifying four carriers in an independent cohort.

This study identifies cell-type-specific DNA methylation dynamics in the human cortex across development, highlighting prenatal periods as critical for epigenomic plasticity and linking changes to neurodevelopmental disorders.

The paper identifies novel CNV loci and dose-dependent gene effects across six psychiatric disorders using genome-wide analysis.

The paper identifies shared and divergent genetic mechanisms across psychiatric disorders using gene-set burden analysis of copy number variants.

This study identifies genetic risk loci and factors underlying clinical subtypes of bipolar disorder using GWAS and meta-analysis.

This study uses Mendelian randomization to investigate the causal relationship between socioeconomic status and brain structure, finding that SES is protective against white matter hyperintensities independent of cognitive ability.

The paper conducts GWAS on brain volumes, identifies genetic loci, and develops polygenic scores with cross-ancestry predictive ability and causal links to neuropsychiatric disorders.

This study finds a significant association between changes in gut microbiome composition and reduction in ADHD symptoms in children following a few-foods diet.

This study compares neuronal phenotypes from monozygotic twins discordant for schizophrenia, finding differences in synaptic activity and neuronal maturation between affected and unaffected siblings.

This study uses bulk RNA-Seq from blood samples to estimate cell type proportions and eQTLs, revealing cell-type specific genetic associations with psychiatric disorders and medication effects.

This study examines circadian genetic architecture in fibroblasts to assess its contribution to bipolar disorder risk, finding limited gene expression patterns and no significant genetic associations with BD.

This paper introduces a computational method to improve the reliability of epigenetic clocks by using principal component analysis, showing reduced technical noise and better performance in longitudinal studies.

This study shows that reducing RNA-seq coverage while increasing sample size improves eQTL discovery power.

This study identifies genetic loci associated with suicide attempts and shows shared genetic architecture with psychiatric disorders and non-psychiatric risk factors.

Meta-analysis of 41,917 European-ancestry bipolar disorder cases versus 371,549 controls yields 64 risk loci (33 novel), neuronal and synaptic gene enrichment, and 15 eQTL-prioritized genes.

The paper reports exome sequencing findings in bipolar disorder, identifying AKAP11 as a shared risk gene with schizophrenia through ultra-rare protein-truncating variants.

This study identifies 48 genetic variants associated with handedness using a large GWAS, highlighting polygenic nature and genetic links to neuropsychiatric traits.

The paper performs a meta-analysis of DNA methylation data from military cohorts to identify CpG sites and regions associated with PTSD development.

The paper examines common genetic variants' contribution to bipolar disorder risk in multiplex families and finds higher polygenic risk scores in affected individuals compared to controls and unaffected family members.

This study identifies 73 genome-wide significant loci for mood disorders, revealing shared and distinct genetic factors between major depressive disorder and bipolar disorder.

The paper examines how evolutionary changes in human brain connectivity overlap with schizophrenia-related changes, finding that human-specific connections are more involved in schizophrenia pathology.

The paper analyzes whole blood transcriptomes in bipolar disorder patients and finds that lithium treatment, not the disorder itself, drives most gene expression changes.

The paper identifies shared disconnectivity patterns in central brain pathways across twelve psychiatric and neurological disorders using a meta-analytic connectome study.

The paper identifies mir-135b-5p as a regulator of persistent stress-enhanced memory and a potential therapeutic target and biomarker for PTSD.

This study identifies 30 genome-wide significant loci associated with bipolar disorder, including novel genes involved in ion channels, neurotransmitters, and synaptic components.

This study identifies ten novel methylation loci associated with PTSD through a meta-analysis of 1,896 cases and controls across ten cohorts, highlighting the AHRR locus and its link to kynurenine levels.

This study conducts the largest GWAS for PTSD, identifying 6 genome-wide significant loci in European and African ancestries and highlighting novel biological pathways.

This paper conducts a GWAS on suicide attempt across psychiatric disorders, identifying genetic loci and showing polygenic risk for major depression predicts suicide attempt in multiple disorders.

This study identifies 114 genome-wide significant loci for schizophrenia and bipolar disorder, with specific subphenotype associations and four genes distinguishing the disorders.