Helena Kilpinen

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 compares in vivo and in vitro midbrain development to assess their similarity to human fetal tissue.

The paper jointly profiles neuronal morphology and gene expression during iPSC differentiation to better understand neuronal development and disease modeling.

DeconV is a probabilistic cell-type deconvolution method for bulk RNA-Seq data using scRNA-Seq references, offering comparable accuracy to Scaden with added interpretability through confidence intervals.

This study investigates how somatic mutations affect dopaminergic neuron differentiation in iPSCs, finding that deleterious mutations in key genes like BCOR are linked to differentiation failure and altered proliferation.

This paper describes a 14-day protocol to differentiate human iPSCs into cortical neural stem cells, validated through RNA-Seq and immunocytochemistry.

PAC improves allelic gene expression quantification by enhancing read alignment and multi-mapping read allocation, leading to more accurate and comprehensive ASE detection.

The paper maps regulatory effects of human disease variants in pluripotent cells, identifying cis- and trans-QTL across 18,556 genes and linking them to GWAS traits.

The paper characterizes proteome variation across 202 human iPSC lines, identifies 700 pQTLs, and links pQTLs to disease-associated GWAS variants.

The paper uses single-cell RNA-seq of differentiating iPS cells from 125 donors to identify expression quantitative trait loci influencing gene expression during endoderm differentiation.

The paper identifies hundreds of genes deregulated by SVs in cancer, showing increased expression linked to SV breakpoints and enhancer elements.

The paper analyzes RNA alterations across 27 cancer types using whole-genome sequencing data, identifying gene expression associations with DNA variants and structural fusions.

The paper maps regulatory variants in iPSC-derived sensory neurons, identifying genetic influences on gene expression, chromatin accessibility, and RNA splicing, with overlaps to disease associations.

This study analyzes whole genome and RNA-Seq data from 1,188 cancer patients to map the effects of somatic and germline genetic variation on gene expression in cancer.

This study analyzes 522 human iPSCs to identify genetic sources of phenotypic variation, finding 5-25% of variation in traits like differentiation capacity is due to individual differences.