Johanna Kuusisto

This study identifies length-dependent hypercontractility as the initial phenotype of MYBPC3-haploinsufficiency in iPSC-derived cardiac tissues, decoupled from early transcriptional and metabolic changes.

This study shows that human iPSC-derived pericyte-like cells with the APP Swedish mutation overproduce beta-amyloid and exhibit CAA-like features in vitro.

The paper identifies additional eQTL signals in adipose tissue and shows they contribute to cardiometabolic traits through gene dosage effects.

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 identifies 303 novel genetic signals associated with plasma metabolites in Finnish men, revealing biological insights into disease mechanisms.

This study identifies 35 genes associated with circulating lipid levels using rare coding variants from 170,000 exomes across multiple ancestries.

The paper evaluates penetrance and variable expressivity of monogenic metabolic conditions using exome data from 77,184 individuals, finding that monogenic variants have larger effect sizes than polygenic scores but low penetrance.

This study identifies 31 genome-wide significant associations between structural variations and cardiometabolic traits in Finns, including two novel loci with strong phenotypic effects.

This study shows that incorporating microglial progenitors into human brain organoids supports neuronal maturation and synaptic activity.

This study identifies 46 novel genetic loci associated with alcohol consumption and suggests shared genetic mechanisms with neuropsychiatric disorders using GWAS and functional analyses.

This study identifies rare genetic variants associated with type 2 diabetes using exome sequencing of 20,791 cases and 24,440 controls, and provides a Bayesian framework to improve variant prioritization.

The paper identifies DNA methylation associations with metabolic syndrome traits in adipose tissue and develops a biomarker for type II diabetes risk.

This study fine-maps type 2 diabetes loci to single-variant resolution using high-density imputation and islet-specific epigenome maps, identifying 73 variants with >80% posterior probability of association.

The paper integrates gene expression and GWAS data to identify novel genes associated with obesity-related traits.