Acute intermittent porphyria (AIP) is an autosomal dominant inherited disease with low
clinical penetrance, caused by mutations in the hydroxymethylbilane synthase (HMBS) …

Short tandem repeat (STR) variation has been proposed as a major explanatory factor in the
heritability of complex traits in humans and model organisms. However, we still struggle to …

Identical disease‐causing mutations can lead to different symptoms in different people. The
reason for this has been a puzzling problem for geneticists. Differential penetrance and …

Caenorhabditis elegans comprises unique features that make it an attractive model
organism in diverse fields of biology. Genetic screens are powerful to identify genes and C …

A loss of the checkpoint kinase ataxia telangiectasia mutated (ATM) leads to impairments in
the DNA damage response, and in humans causes cerebellar neurodegeneration, and an …

Expanded polyglutamine repeats in different proteins are the known determinants of at least
nine progressive neurodegenerative disorders whose symptoms include cognitive and …

In the presence of aggregation-prone proteins, the cytosol and endoplasmic reticulum (ER)
undergo a dramatic shift in their respective redox status, with the cytosol becoming more …

Accurate assessment of genetic variation in human DNA sequencing studies remains a
nontrivial challenge in clinical genomics and genome informatics. Ascribing functional roles …

Cardiomyopathies, neuropathies, cancer and accelerated ageing are unequivocally distinct
diseases, yet they also show overlapping pathological hallmarks, including a gradual loss of …

Each human genome has approximately 5 million DNA variants. Even for complete loss-of-
function variants causing inherited, monogenic diseases, current understanding based on …