James A. Knowles

Rare coding variation implicates thirteen genes in bipolar disorder across 232,536 individuals from global populations

Analysis of Rare Coding Variation Identifies New Genetic Contributors to Schizophrenia

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.

Multiplex Portuguese Families as a Lens into rare mutations and the Shared Genetic Architecture of Schizophrenia, Mood Disorders, and Autism Spectrum Disorders

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.

Genomic dimensions deconstruct the clinical heterogeneity of bipolar disorder

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

The Landscape of Shared and Divergent Genetic Influences across 14 Psychiatric Disorders

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.

Evaluation of imputation performance of multiple reference panels in a Pakistani population

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

Cell type catalog of middle turbinate epithelium

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.

Exome sequencing identifies rare coding variants in 10 genes which confer substantial risk for schizophrenia

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.

Autism spectrum disorder trios from consanguineous populations are enriched for rare biallelic variants, identifying 32 new candidate genes

Genome-wide Association Study of Pediatric Obsessive-Compulsive Traits: Shared Genetic Risk between Traits and Disorder

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

Synaptic processes and immune-related pathways implicated in Tourette Syndrome

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

Transcriptional Profiling of Primate Central Nucleus of the Amygdala Neurons to Understand the Molecular Underpinnings of Early Life Anxious Temperament

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.

A phenome-wide association and Mendelian Randomisation study of polygenic risk for depression in UK Biobank

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.

Gene expression in patient-derived neural progenitors implicates WNT5A signaling in the etiology of schizophrenia

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

A CTGF-YAP regulatory pathway is essential for angiogenesis and barriergenesis in the retina

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

Genetic variation in the Major Histocompatibility Complex and association with depression

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.

Variably methylated regions in the newborn epigenome: environmental, genetic and combined influences

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.

Deconvolution of Transcriptional Networks Identifies TCF4 as a Master Regulator in Schizophrenia

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

Concordance Of Genetic Variation That Increases Risk For Tourette Syndrome And That Influences Its Underlying Neurocircuitry

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

Contribution of rare copy number variants to bipolar disorder risk is limited to schizoaffective cases

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.

Applying polygenic risk scoring for psychiatric disorders to a large family with Bipolar Disorder and Major Depressive Disorder

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

Extremely rare variants reveal patterns of germline mutation rate heterogeneity in humans

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

Examination of the Shared Genetic Basis of Anorexia Nervosa and Obsessive-Compulsive Disorder

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 analyses identify 44 risk variants and refine the genetic architecture of major depression

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.

Polygenic selection underlies evolution of human brain structure and behavioral traits

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.

Evolutionary and functional data power search for obsessive-compulsive disorder genes

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

Assessing the measurement transfer function of single-cell RNA sequencing

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.