Aarno V. Palotie

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 develops and validates polygenic risk scores (PRS) for 150 diseases and mortality using UK Biobank and FinnGen data, showing genetic information provides the largest predictive gains for certain diseases but not others.

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.

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 explores proteomic and epigenetic aging clocks as biomarkers for Alzheimer's disease phenotypes, finding proteomic clocks improve explained variance in cognitive and biomarker measures by up to 18%.

This study identifies 105 genetic loci associated with 67 oral diseases and finds strong genetic correlations between oral and systemic conditions.

This study identifies 32 new SNHL risk loci through genome-wide meta-analyses of 531,059 individuals, including age- and sex-specific differences.

This study uses exome and genome sequencing to identify 68 genes directly associated with inflammatory bowel disease, providing clearer genetic insights and therapeutic targets.

The paper introduces Gene Portals, a framework that integrates clinical, functional, and structural data for rare disease variant classification, demonstrating its utility across five gene-specific portals.

This study fine-maps genome-wide association study results for migraine, identifying 181 credible sets of candidate causal variants across 102 regions.

The paper uses population-scale single-nucleus ATAC-seq and RNA-seq to identify regulatory variants and their disease associations in immune cells.

The paper describes a pipeline for collecting high-quality blood samples from donors for multi-omics research, demonstrating their suitability for genetic and phenotypic studies.

This study identifies 1,242 novel genetic variants and 31 novel genes associated with frailty through genome-wide association and proteomics integration.

This study identifies 93 genetic loci associated with alcohol-related diseases using FinnGen data and shows polygenic risk scores can stratify risk for these diseases and related outcomes.

The paper benchmarks polygenic scores in a large cohort, identifies top-performing models, and provides a public platform for PGS analysis and interpretation.

The paper identifies genetic loci associated with female infertility through a GWAS, revealing a rare recessive mutation in TBPL2 and age-dependent risk factors.

This study conducts a genome-wide meta-analysis across three biobanks to identify new genetic loci associated with lumbar disc herniation, expanding the known genetic landscape.

The paper identifies regulatory variation at HTR1F associated with sleep apnea risk and arousals, particularly in non-obese individuals.

This study shows that epilepsy polygenic risk scores (PRSs) can predict epilepsy risk across lifetimes and after seizure events in a large Finnish cohort.

The paper identifies a regulatory variant in IRF6 associated with increased cleft palate risk in Finland and shows it disrupts IRF6 enhancer function.

The paper uses whole-genome sequencing to identify genetic variants associated with stroke in type 1 diabetes and finds replication evidence for several loci in both diabetic and non-diabetic populations.

The paper develops Blood Cell Painting (BCP) to profile immune cell morphology in healthy donors, identifying genetic and clinical associations with immune cell features.

The paper identifies a rare variant in VE-PTP associated with CSC, varicose veins, and glaucoma using genome-wide data from multiple cohorts.

This study shows that PLCG2 downregulation impairs synaptic function and increases Alzheimer's disease-related markers in neurons.

This study identifies 31 plasma proteins and expands genetic loci associated with PCOS, highlighting metabolic and hormonal influences and polygenic risk effects on cardio-metabolic outcomes.

This study identifies ADRA2A as a major risk locus for Raynaud's syndrome through genome-wide association analysis and functional validation in vascular smooth muscle cells.

This study identifies somatic copy number variants (sCNVs) in schizophrenia cases, revealing their contribution to risk and specific NRXN1 disruptions.

This study identifies 64 new risk loci for major depression, refines its genetic architecture, and shows strong genetic overlap with other psychiatric disorders and educational attainment.