Sergi Papiol

Recalculated CNV penetrance: what it does and does not change for counselling

The paper recalculates CNV penetrance for intellectual disability, showing lower estimates due to methodological differences, and recommends phenotype-specific risk reporting.

Pleiotropic genetic architecture linking schizophrenia and substance use disorders

This study identifies shared genetic architecture between schizophrenia and substance use disorders using GWAS and genomic methods, finding significant genetic correlations and bidirectional causal relationships.

Modulation of Neuronal Excitability and Plasticity by BHLHE41 Conveys Lithium Non-Responsiveness

This study identifies BHLHE41 as a key regulator of lithium response in bipolar disorder by showing its role in neuronal excitability and synaptic plasticity through genetic and cellular analyses.

Cell-type-specific DNA methylation patterns associated with suicide are enriched in excitatory neurons

The paper identifies cell-type-specific DNA methylation patterns in excitatory neurons associated with suicide using postmortem brain tissue.

Using multi-trait polygenic scores to predict lithium responsiveness in patients with bipolar disorder

This paper develops a multi-trait polygenic score (mt-PGS) to predict lithium responsiveness in bipolar disorder, finding it improves prediction accuracy compared to single-trait methods.

Genome-wide analyses of quantitative generalised anxiety symptom severity

This study conducts a genome-wide association analysis of generalised anxiety symptom severity, identifying 80 significant variants and showing genetic correlations with other mental and physical health traits.

Pathway-Specific Polygenic Scores for Predicting Clinical Lithium Treatment Response in Patients with Bipolar Disorder

The paper develops pathway-specific polygenic scores to predict lithium treatment response in bipolar disorder and finds associations with specific biological pathways.

Disease Severity Across Psychiatric Disorders Is Linked to Pro-Inflammatory Cytokines

This study identifies two clusters of severe mental disorder patients with differing illness severity, finding elevated pro-inflammatory serum proteins in the more severe group.

Genome-wide Association Study of Long COVID

This study performs a genome-wide association study for Long COVID, identifying a significant association with the FOXP4 locus and highlighting the role of pulmonary dysfunction and COVID-19 severity.

Genetic analysis of retinal cell types reveals synaptic pathology in schizophrenia

The paper identifies amacrine cells as enriched in schizophrenia genetic risk and links this to synaptic biology, while finding retinal immune cells associated with multiple sclerosis.

Polygenic risk for schizophrenia converges on alternative polyadenylation as molecular mechanism underlying synaptic impairment

This study identifies alternative polyadenylation (APA) as a molecular mechanism linking polygenic risk for schizophrenia to synaptic impairments through functional analysis in induced neurons.

Leveraging genetics to improve Body Mass Index increase prediction in the first-episode of psychosis

This study uses polygenic risk scores to predict BMI increase in first-episode psychosis patients, finding shared genetic variants between schizophrenia and BMI contribute significantly to the prediction.

Interplay between the Genetics of Personality Traits, severe Psychiatric Disorders, and COVID-19 Host Genetics in the Susceptibility to SARS-CoV-2 Infection

The paper investigates genetic correlations between psychiatric disorders, personality traits, and SARS-CoV-2 susceptibility using GWAS data and individual-level polygenic risk scores.

"The Heidelberg Five" Personality Dimensions: Genome-wide Associations, Polygenic Risk for Neuroticism, and Psychopathology 20 Years after Assessment

The paper identifies genetic associations with five personality dimensions and links them to psychiatric symptoms over time.

Polygenic scores for major depressive disorder and depressive symptoms predict response to lithium in patients with bipolar disorder

The paper shows that polygenic scores for depression traits predict lithium response in bipolar disorder patients, with lower genetic load linked to better treatment outcomes.

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

This study identifies 114 genome-wide significant loci for schizophrenia and bipolar disorder, with specific subphenotype associations and four genes distinguishing the disorders.

High genetic loading for schizophrenia predicts poor response to lithium in patients with bipolar disorder: A polygenic score and cross-trait genetic analysis

This study finds that a higher genetic risk for schizophrenia is linked to poorer lithium response in bipolar disorder patients, suggesting potential for personalized treatment strategies.