Jaana Suvisaari

This study identifies ultra-rare damaging variants in schizophrenia risk genes and shows they are associated with earlier hospitalizations, greater childhood adversity, and poorer neuropsychological outcomes across psychotic disorders.

This paper identifies SORCS3 as a novel genetic locus associated with panic disorder through a genome-wide association study in the FinnGen study and validates it in independent samples.

The paper demonstrates the feasibility of conducting clinical recall studies from the FinnGen biobank to collect customized clinical data from participants with Alzheimer's disease or mild cognitive disorder.

This study identifies eight genes associated with adult cognitive function through rare coding variants and shows how KDM5B dosage affects cognitive traits in mice and humans.

The paper investigates six rare SLCO1B1 variants in Finnish individuals with psychosis, finding one variant causes loss-of-function and reduced OATP1B1 protein expression.

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 constructs a CYP2D6 copy-number imputation panel and reports pharmacogenetic variant frequencies in Finnish individuals with psychosis, showing high imputation accuracy but limited clinical utility.

The paper identifies molecular pathways and potential treatments for schizophrenia using stem cell-derived neurons and pharmacological associations.

The paper shows that astrocytes from schizophrenia patients exhibit transcriptional and functional changes, including inflammation and synaptic pathway alterations, which are partially reversible with clozapine treatment.

The paper identifies rs165940 as a functional variant in the PDE4D gene associated with major mental illness in the Finnish population, particularly psychosis and cognitive domains.

This study compares the effectiveness of ethnically matched and mixed reference panels for imputing rare variants in GWAS, showing improved detection of rare variant associations with matched panels.

The paper investigates the genetic contributions to intellectual disability, finding rare variants are more common in severe cases and common variants contribute to all severity levels.

The paper investigates how genetic variation at the NDE1 locus affects gene expression and treatment response to psychiatric medications through interactions with microRNA-484 and CYP2C19.

This study finds that ultra-rare disruptive variants in highly constrained genes are associated with reduced educational attainment in the general population.

The paper identifies rare loss-of-function variants in KMT2F associated with schizophrenia and developmental disorders, showing their role in neurodevelopmental conditions.