Olli P. H. Pietiläinen

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.

The paper introduces a cell village-based fitness screening approach and a Dirichlet regression framework to analyze genetic factors affecting cell proliferation and environmental sensitivity in human neural progenitor cells.

The paper identifies a loss-of-function variant in INTS6 in a family with intellectual disability, showing transcriptomic effects including splicing defects and downregulation of synaptic genes.

This study shows that Sac1 regulates Golgi V-ATPase assembly by controlling TGN membrane composition through lipid exchange, leading to Golgi fragmentation and impaired glycosylation.

The paper shows that astrocyte-supplied cholesterol drives synaptic gene expression in neurons and induces astrocytic transcriptional responses, linking lipid metabolism to neurodevelopmental disorders.

The paper identifies cell type-specific molecular changes in ALS patients, showing enrichment of genetic risk factors in extratelencephalic neurons and altered responses in oligodendrocytes and microglia.

The paper shows human astrocytes influence neuronal network burst frequency via NMDA receptors, with differences between human and rat astrocytes and effects in schizophrenia-related cells.

This study examines escape from X-chromosome inactivation in female hiPSCs, revealing non-random patterns and their impact on gene expression and sex differences.

This study develops a rapid, scalable method to generate functional human astrocytes from pluripotent stem cells using NGN2 induction, showing high homogeneity and disease relevance.

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 shows that astrocyte-neuron interactions enhance synaptic gene expression in neurons and correlate with schizophrenia risk genes.

This study combines Ngn2 overexpression with small molecule patterning to efficiently generate lower induced Motor Neurons (liMoNes) from hPSCs, achieving high yields and functional characteristics.

This study shows that SARS-CoV-2 can infect a small fraction of human cortical neurons via the endosomal pathway, and this infection can be blocked by apilimod.

This study investigates how the 22q11.2 deletion affects gene expression in neural progenitor cells and neurons, linking it to schizophrenia risk through altered presynaptic gene products.

The paper investigates the impact of rare protein truncating variants on 13 quantitative traits and 10 diseases using whole-exome sequencing data from 100,296 individuals, finding increased risk for several disorders and associations with other phenotypes.

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.