The maintenance of mitochondrial DNA (mtDNA) depends on a number of nuclear gene-
encoded proteins including a battery of enzymes forming the replisome needed to …

Primary microcephaly (MCPH, for “microcephaly primary hereditary”) is a disorder of brain
development that results in a head circumference more than 3 standard deviations below …

Genome-wide association studies (GWAS) have identified thousands of variants associated
with complex traits, but their biological interpretation often remains unclear. Most of these …

Our knowledge of disease genes in neurological disorders is incomplete. With the aim of
closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous …

The genetic basis of most traits is highly polygenic and dominated by non-coding alleles. It is
widely assumed that such alleles exert small regulatory effects on the expression of cis …

The insulin-like growth factor (IGF) system comprises two ligands, IGF-I and IGF-II, that
regulate multiple physiological processes, including mammalian development, metabolism …

Recent research has established clear connections between G‐quadruplexes and human
disease. Features of quadruplex structures that promote genomic instability have been …

The paraventricular nucleus of the hypothalamus (PVH), located in the ventral diencephalon
adjacent to the third ventricle, is a highly conserved brain region present in species from …

The fast technological development, particularly single nucleotide polymorphism array, array-
comparative genomic hybridization, and whole exome sequencing, has led to the discovery …

Defects in DNA repair can result in oncogenic genomic instability. Cancers occurring from
DNA repair defects were once thought to be limited to rare inherited mutations (such as …