Roel A. Ophoff

Ultra-rare damaging coding variants in 87,959 schizophrenia cases and 150,587 controls implicate 40 genes (16 exome-wide, 24 at 5% FDR), half overlapping autism, developmental delay or bipolar genes.

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

MarkerMatch improves CNV detection sensitivity across genotyping arrays by matching probes based on proximity, outperforming consensus probe methods.

The paper introduces co-expression-based models to improve eQTL predictions and identifies novel schizophrenia-associated genes using brain RNA-seq data.

This study identifies distinct rare de novo coding variants associated with Tourette Syndrome, highlighting loss-of-function mutations and novel candidate genes.

The paper identifies USP18 as a negative regulator of interferon response at a lupus risk locus through trans-eQTL analysis in lymphoblastoid cell lines.

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 maps quantitative trait loci for CSF metabolites and identifies associations with brain traits, revealing potential neurobiological pathways.

The paper introduces BGE, a sequencing method that combines low-pass whole genome and deep whole exome data, showing high accuracy and cost-effectiveness for genetic variant discovery.

The paper introduces a method to compress genetic data using autoencoders that leverage linkage disequilibrium structure, achieving high reconstruction accuracy while reducing data size.

The paper investigates epigenetic age acceleration in schizophrenia, finding age- and sex-specific effects and associations with polygenic risk scores.

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.

The paper evaluates 41 DNA methylation predictors across 101 data preprocessing strategies, finding significant variation in performance and highlighting the importance of appropriate normalization for reliable results.

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

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

The paper investigates genetic risk for psychosis spectrum symptoms in youth, finding a significant link with ADHD polygenic scores and age-specific effects.

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

The paper investigates clozapine's molecular effects using lymphoblastoid cell lines, identifying transcriptomic and epigenomic changes linked to cholesterol and metabolic pathways.

This study uses gene expression imputation to identify candidate genes and tissue-specific associations linked to frontotemporal dementia risk loci.

This study examines genetic risk for bipolar disorder in extended families, finding that both common and rare variants contribute to susceptibility, with no significant segregation of large-effect variants.

The paper reports epigenome-wide meta-analyses of blood DNA methylation with subcortical brain volumes, identifying significant associations with hippocampal volume and potential biological mechanisms.

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

This study identifies C4 genes in the MHC locus as sex-specific contributors to risk for lupus, Sjogrens syndrome, and schizophrenia, with stronger effects in men than women.

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

This study identifies 43 tissue-specific gene associations with Dupuytrens disease risk and finds significant genetic correlations with BMI, type II diabetes, and lipid traits.

The paper examines dynamic functional network connectivity in youth with psychosis spectrum symptoms using resting state fMRI data from the Philadelphia Neurodevelopmental Cohort.

The paper identifies structural brain differences in youth with psychosis spectrum symptoms compared to other groups, highlighting reduced cortical surface area and thalamic volume.

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.