James A. Knowles

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 analyzes 173 multiplex Portuguese families to identify rare genetic variants associated with schizophrenia, mood disorders, and autism, finding a CHD2 mutation linked to diverse mental illness phenotypes.

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

The paper identifies five genomic factors explaining most genetic variance across 14 psychiatric disorders and finds shared and disorder-specific genetic signals with distinct biological functions.

This study evaluates imputation performance of reference panels in a Pakistani population, finding that ex1KG outperforms TOPMed despite its smaller size.

The paper identifies 14 cell types in human middle turbinate mucosa using scRNA-seq, including neural progenitors, and compares their gene expression profiles to other respiratory mucosa.

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.

This study identifies a genome-wide significant variant for OC traits and shows shared genetic risk between OC traits and OCD.

This study identifies gene sets associated with Tourette Syndrome using genome-wide data, highlighting synaptic and immune-related pathways.

The paper identifies 528 AT-related transcripts in rhesus monkey CeL neurons, including PKCδ, and shows their projection to BSTLd, suggesting a primate circuit relevant to anxiety.

This study identifies traits associated with polygenic risk for depression using UK Biobank data and finds causal links between depression risk and brain structure, as well as environmental interactions.

The paper identifies differentially expressed genes in schizophrenia-associated neural progenitor cells, implicating WNT5A signaling in schizophrenia etiology.

This study identifies the CTGF-YAP pathway as critical for vascular development and barrier function in the retina.

This study investigates whether genetic variation in the Major Histocompatibility Complex (MHC) is associated with depression risk, finding no significant associations at a conservative threshold.

The paper examines how genetic and environmental factors influence DNA methylation at variably methylated regions in neonatal blood, finding that combined effects best explain methylation variability.

The paper deconvolves transcriptional networks in schizophrenia to identify TCF4 as a master regulator potentially dysregulated in the disease.

This study identifies genetic overlaps between Tourette Syndrome risk and subcortical brain volumes using GWAS and pleiotropy analysis.

The study finds that rare copy number variants (CNVs) contribute to bipolar disorder risk primarily in schizoaffective disorder bipolar type cases, with differences in CNV burden and schizophrenia polygenic risk scores between subtypes.

The paper applies polygenic risk scoring to a large family with bipolar and depressive disorders to study genetic risk patterns and anticipation.

The paper analyzes rare variants to uncover mutation rate heterogeneity in the human genome, identifying genomic features that influence mutation rates.

This study investigates the shared genetic basis of anorexia nervosa and obsessive-compulsive disorder using a cross-disorder GWAS, finding a significant genetic correlation and associations with psychiatric and metabolic traits.

Genome-wide association meta-analysis of 130,664 major depression cases and 330,470 controls identifies 44 independent risk loci enriched in cortical neurons, conserved mammalian regions, splicing networks, and antidepressant targets.

The paper investigates selection mechanisms underlying human brain structure and behavioral traits, finding evidence for ancient and recent polygenic adaptation but not classical selective sweeps.

The paper identifies OCD-associated genes by combining evolutionary and functional data with targeted sequencing in humans and animal models.

This study evaluates the performance of three scRNA-seq methods through controlled experiments, finding they reliably detect genes above 5-10 molecules with linear measurement transfer functions.