Outi Kuismin

INTS6 loss of function disrupts transcriptional regulation in mild intellectual disability

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.

Systematic assessment of rare and de novo structural variants in 57 patient-parent trios using optical genome mapping

This study uses optical genome mapping to identify de novo and rare inherited structural variants in 57 patient-parent trios, finding 13 de novo SVs and 11 rare inherited SVs, some of which are pathogenic or candidate disease-causing.

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes

This study identifies ARID5B mutations as a cause of a neurodevelopmental syndrome with neuroinflammation episodes and describes clinical and functional consequences.

Dsg2 truncation causes a lethal barrier breakdown in mice

This study shows that a DSG2 mutation causing Dsg2 truncation leads to a lethal intestinal barrier defect and a skewed IL17 response in mice, similar to Crohn's disease.

The impact of rare protein coding genetic variation on adult cognitive function

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.

Elucidating the clinical and molecular spectrum of SMARCC2-associated NDD in a cohort of 65 affected individuals

The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.

Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy

The paper identifies STX1A variants causing a neurodevelopmental disorder with or without epilepsy, showing different phenotypes based on variant type.

The 22q11.2 region regulates presynaptic gene-products linked to schizophrenia

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.

Haploinsufficiency of A20 impairs protein-protein interactome and leads into caspase-8-dependent enhancement of NLRP3 inflammasome activation

This study identifies a novel mutation in A20 causing haploinsufficiency and shows it impairs the protein-protein interactome, leading to enhanced NLRP3 inflammasome activation through caspase-8.

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

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.

Contribution of rare and common variants to intellectual disability in a high-risk population sub-isolate of Northern Finland

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.

Rare loss-of-function variants in KMT2F are associated with schizophrenia and developmental disorders

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