Ultraviolet (UV) irradiation and other genotoxic stresses induce bulky DNA lesions, which
threaten genome stability and cell viability. Cells have evolved two main repair pathways to …

Cellular DNA is continuously transcribed into RNA by multisubunit RNA polymerases
(RNAPs). The continuity of transcription can be disrupted by DNA lesions that arise from the …

Background Whole genome sequencing is increasingly being used for the diagnosis of
patients with rare diseases. However, the diagnostic yields of many studies, particularly …

Whereas large-scale statistical analyses can robustly identify disease-gene relationships,
they do not accurately capture genotype-phenotype correlations or disease mechanisms …

Craniosynostosis (CS) is the most common congenital cranial anomaly. Several Mendelian
forms of syndromic CS are well described, but a genetic etiology remains elusive in a …

Summary RNA polymerase II (RNA Pol II) subunits are thought to be involved in various
transcription-associated processes, but it is unclear whether they play different regulatory …

The genetics of autosomal recessive intellectual disability (ARID) has mainly been studied in
consanguineous families, however, founder populations may also be of interest to study …

Exploring the functional effect of a non-synonymous coding variant at the protein level
requires multiple pieces of information to be interpreted appropriately. This is particularly …

Inborn errors of metabolism (IEM) are individually rare, but collectively numerous. The
application of tandem mass spectrometry (tandem MS) to newborn screening and prenatal …

Accurate transcription is required for the faithful expression of genetic information. However,
relatively little is known about the molecular mechanisms that control the fidelity of …