Browse the search results

In addition to its academic merits, characterizing the genetic determinants of male (in)fertility and identifying clinically actionable genetic variants can lead to improved diagnosis or even treatment of such conditions.

Analyses of spindle genes with missense changes in modern humans reveal evidence for positive selection since the split with archaic humans and show that modern humans interacted with Neandertals more than once in the past 200,000 years.

Genetic finding of pathogenic CRMP1 variants in three unrelated individuals with neurodevelopmental disorder, supported by structural simulation, biochemical and proof-of-principle data highlights the key role of CRMP1 in the development and functioning of the nervous system in humans.

Systematic assessment of de novo variants in patients with sporadic inborn errors of immunity led to the identification of promising candidate variants in known and novel immune genes, supporting its implementation in the routine diagnostic evaluation of these patients.

A new mathematical model that can be applied to both single-cell and bulk DNA sequencing data sheds light on the processes governing population dynamics in stem cells.

GrimAge acceleration may increase the risk of colorectal cancer.

Rare SARM1 alleles encoding SARM1 variants that have constitutively high NADase activity and sensitise cultured neurons to mild stress are risk alleles for ALS and other, related motor disorders.

Genetic variants located in DNA repair genes and a reduced burden of somatic mutations protect the oldest living persons from age-related diseases, allowing an healthy aging phenotype.

A genetic variant within a newly identified enhancer regulates the expression of a key pharmacogene and alters the balance between resistance and sensitivity to a widely used chemotherapeutic.

Hundreds of loci underlying ecological adaptation to different environmental conditions show striking differences in allele frequencies between ecotypes of Atlantic herring.