Michele T. Pato

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.

Gene-Set Based Rare Variant Association Analysis of Whole Genome Sequencing Data in the Portuguese Island Collection for Schizophrenia and Bipolar Disorder

The paper performs rare variant association analysis using whole-genome sequencing data from the Portuguese Island Collection to identify shared genetic pathways in schizophrenia and bipolar disorder.

A blended genome and exome sequencing method captures genetic variation in an unbiased, high-quality, and cost-effective manner

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.

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.

Rare schizophrenia risk variant burden is conserved in diverse human populations

The paper investigates the conservation of rare schizophrenia risk variants across diverse populations and finds consistent burden in constrained genes.

Polygenic risk scores lack prognostic value for adults with severe mental illness

This study evaluates the prognostic value of polygenic risk scores for schizophrenia and finds they do not improve outcome prediction beyond clinical features.

Investigation of convergent and divergent genetic influences underlying schizophrenia and alcohol use disorder

This study identifies genetic variants shared between schizophrenia and alcohol use disorder, finding both convergent and divergent effects and evidence of brain tissue expression.

Biological insights from the whole genome analysis of human embryonic stem cells

This study performs whole genome sequencing of human embryonic stem cells to identify genetic variants and provides resources for cell line selection.

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.

Complement component 4 genes contribute sex-specific vulnerability in diverse illnesses

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.

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.

Genome-wide association study of suicide attempt in psychiatric disorders identifies association with major depression polygenic risk scores

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.

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.

Genetic validation of bipolar disorder identified by automated phenotyping using electronic health records

This paper validates EHR-based BD phenotyping algorithms by showing their genetic correlation with traditional BD cases, suggesting they identify genetically similar cases.

Narrow-sense heritability estimation of complex traits using identity-by-descent information.

This paper estimates narrow-sense heritability using identity-by-descent information in unrelated individuals and finds that IBD-based methods can capture rare variant contributions but are affected by stratification.

Genome-wide Association Study of Clinical Features in the Schizophrenia Psychiatric Genomics Consortium: Confirmation of Polygenic Effect on Negative Symptoms

The paper confirms a polygenic effect on negative symptoms in schizophrenia using GWAS, identifies novel loci, and highlights the need for larger samples.

Association Between Substance Use Disorder And Polygenic Liability To Schizophrenia

The paper investigates the genetic link between schizophrenia and substance use disorder, finding shared polygenic liability across multiple datasets.

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.