Differential gene expression mechanisms ensure cellular differentiation and plasticity to
shape ontogenetic and phylogenetic diversity of cell types. A key regulator of differential …

Intellectual disability (ID) has a prevalence of~ 2–3% in the general population, having a
large societal impact. The underlying cause of ID is largely of genetic origin; however …

Regulatory landscapes drive complex developmental gene expression, but it remains
unclear how their integrity is maintained when incorporating novel genes and functions …

Structural variants are a common cause of disease and contribute to a large extent to inter-
individual variability, but their detection and interpretation remain a challenge. Here, we …

Dwarfing rootstocks have transformed the production of cultivated apples; however, the
genetic basis of rootstock-induced dwarfing remains largely unclear. We have assembled …

The cause of autosomal-dominant retinitis pigmentosa (adRP), which leads to loss of vision
and blindness, was investigated in families lacking a molecular diagnosis. A refined locus …

Objective To assess the benefits and limitations of whole genome sequencing (WGS)
compared to exome sequencing (ES) or multigene panel (MGP) in the molecular diagnosis …

Many patients with epilepsy undergo exome or genome sequencing as part of a diagnostic
workup; however, many remain genetically unsolved. There are various factors that account …

Topological associating domains (TADs) are self-interacting genomic units crucial for
shaping gene regulation patterns. Despite their importance, the extent of their evolutionary …

Transcriptional enhancers play a key role in the initiation and maintenance of gene
expression programmes, particularly in metazoa. How these elements control their target …