Jouko K Lönnqvist

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 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.

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.

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.