We now recognize that with aging, hematopoietic stem and progenitor cells (HSPCs)
acquire mutations that confer a fitness advantage and clonally expand in a process now …

Clinical evidence suggests that conventional cardiovascular disease (CVD) risk factors
cannot explain all CVD incidences. Recent studies have shown that telomere attrition, clonal …

Despite polymorphic duplicate genes' importance for the early stages of duplicate gene
evolution, they are less studied than old gene duplicates. Two essential questions thus …

Background 17q12 microdeletion and microduplication syndromes present as overlapping,
multisystem disorders. We assessed the disease phenotypes of individuals with 17q12 CNV …

Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition
characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia …

Parkinson's disease (PD) is a complex neurodegenerative disease with a variety of genetic
and environmental factors contributing to disease. The SNCA gene encodes for the alpha …

Purpose Many copy number variants (CNVs) are reported to cause a variety of
neurodevelopmental disabilities including intellectual disability, developmental delay …

Persistent congenital hyperinsulinism (HI) is a rare genetically heterogeneous condition
characterised by dysregulated insulin secretion leading to life-threatening hypoglycaemia …

Parkinson's disease (PD) is a complex neurodegenerative disease with a variety of genetic
and environmental factors contributing to disease. The SNCA gene encodes for the alpha …