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 …

Histone posttranslational modifications are key regulators of chromatin-associated
processes including gene expression, DNA replication and DNA repair. Monoubiquitinated …

Neurodevelopmental disorders (NDDs), including intellectual disability (ID) and autism
spectrum disorders (ASD), are a large group of disorders in which early insults during brain …

Autosomal recessive primary microcephaly (MCPH) is a neurodevelopmental disorder that
is characterised by microcephaly present at birth and non-progressive mental retardation …

Background Embryonic lethality is a recognized phenotypic expression of individual gene
mutations in model organisms. However, identifying embryonic lethal genes in humans is …

DNA methylation and Polycomb are key factors in the establishment of vertebrate cellular
identity and fate. Here we report de novo missense mutations in DNMT3A, which encodes …

Microcephaly or reduced head circumference result from a multitude of abnormal
developmental processes affecting brain growth and/or leading to brain atrophy. Autosomal …

Autosomal recessive primary microcephaly (MCPH;“small head syndrome”) is a rare,
heterogeneous disease arising from the decreased production of neurons during brain …

Importance The Consortium on the Genetics of Schizophrenia (COGS) uses quantitative
neurophysiological and neurocognitive endophenotypes with demonstrated deficits in …

Cell identity is tightly controlled by specific transcriptional programs which require post-
translational modifications of histones. These histone modifications allow the establishment …