… In Finland, similar to the other Nordic countries, there are nationwide electronic health
registers that were originally established primarily for administrative purposes to monitor the …

Population isolates such as Finland provide benefits in genetic studies because the allelic
spectrum of damaging alleles in any gene is often concentrated on a small number of low-…

There is a limited understanding about the impact of rare protein-truncating variants across
multiple phenotypes. We explore the impact of this class of variants on 13 quantitative traits …

Hearing loss is one of the top contributors to years lived with disability and is a risk factor for
dementia. Molecular evidence on the cellular origins of hearing loss in humans is growing. …

… The predicted loss includes residues involved in formation of the DSBH domain such as
H1912 involved in coordination of Zn3-ion (e), as well as residues R1896 and S1898 critical for …

Cytogenic testing is routinely applied in most neurological centres for severe paediatric
epilepsies. However, which characteristics of copy number variants (CNVs) confer most epilepsy …

Objective Copy number variations ( CNV s) represent a significant genetic risk for several
neurodevelopmental disorders including epilepsy. As knowledge increases, reanalysis of …

… Real-world data from electronic health records and registries provide massive datasets with
sufficient statistical power to explore long-term medication use. Behavioral patterns derived …

In the version of this article initially published, author Marianna Niemi, now affiliated with the
TAUCHI Research Center and the Faculty of Medicine and Health Technology in Tampere …

The contribution of de novo variants in severe intellectual disability (ID) has been extensively
studied whereas the genetics of mild ID has been less characterized. To elucidate the …