Claire L. Churchhouse

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.

This study identifies shared and distinct ultra-rare genetic risk factors for epilepsy subtypes using whole-exome sequencing of 20,979 patients and 33,444 controls.

This paper introduces GISMO and GISMO-mis metrics to quantify gene loss and missense variation across mammals, identifying essential genes and improving gene-disease associations.

This paper introduces GUIDE, a method to identify latent genetic factors from GWAS data, revealing biological pathways and environmental influences in complex traits.

Meta-analyzing per-ancestry GWAS of 7,266 UK Biobank traits across six genetic ancestry groups adds 14,676 loci missed by European-only analysis, including ancestry-enriched CAMK2D and G6PD signals.

The paper evaluates dominance effects in over 1,000 UK Biobank phenotypes using GWAS, finding no significant dominance contribution to phenotypic variance from common variation.

The paper performs single-variant and gene-based association analyses of 4,529 phenotypes using exome data from 426,370 UK Biobank individuals, finding associations linked to variant frequency and deleteriousness.

Exomes of 24,248 schizophrenia cases and 97,322 controls implicate ultra-rare damaging variants in 10 genes, including GRIN2A and GRIA3, with odds ratios of 3 to 50.

The paper analyzes ultra-rare variants in epilepsy patients to identify gene-set enrichment patterns and differential impacts in neuronal gene categories.

This paper presents a data harmonization pipeline for GWAS that improves power by integrating external controls and reduces batch effects, demonstrating its effectiveness in a Crohn's disease study.

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 identifies an enrichment of rare protein-truncating variants in ALS patients, highlighting novel genes like DNAJC7 and known ALS genes such as SOD1, NEK1, and FUS.

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

This study identifies 14 genome-wide significant loci and a polygenic signature for myeloproliferative neoplasms, implicating hematopoietic stem cell function and self-renewal in disease risk.

This study identifies ultra-rare genetic variants associated with different epilepsy types using whole-exome sequencing in 17,634 individuals.

PAIRUP-MS imputes and annotates unknown metabolite signals in mass spectrometry data, improving pathway analysis and meta-analysis power for metabolomics studies.

This study examines the contribution of protein-coding de novo mutations to schizophrenia risk using whole-exome sequencing data from parent-offspring trios, finding a modest but polygenic effect.