The mTOR pathway integrates a diverse set of environmental cues, such as growth factor
signals and nutritional status, to direct eukaryotic cell growth. Over the past two and a half …

Zebrafish are increasingly being utilized as a model system to investigate the function of the
growing list of risk genes associated with neurodevelopmental disorders. This is due in large …

One of the features that distinguishes modern humans from our extinct relatives and
ancestors is a globular shape of the braincase [1–4]. As the endocranium closely mirrors the …

Malformations of cortical development encompass heterogeneous groups of structural brain
anomalies associated with complex neurodevelopmental disorders and diverse genetic and …

Conserved genomic sequences disrupted in humans may underlie uniquely human
phenotypic traits. We identified and characterized 10,032 human-specific conserved …

Neurodevelopmental disorders (NDDs), including intellectual disability (ID), autism and
schizophrenia, have high socioeconomic impact, yet poorly understood etiologies. A recent …

Expansion of the human brain, and specifically the neocortex, is among the most remarkable
evolutionary processes that correlates with cognitive, emotional, and social abilities. Cortical …

Hyperactivation of the mechanistic target of rapamycin complex 1 (mTORC1) due to
mutations in genes along the PI3K-mTOR pathway and the GATOR1 complex causes a …

Disruption of chromatin structure due to epimutations is a leading genetic etiology of
neurodevelopmental disorders, collectively known as chromatinopathies. We show that …

Heterogeneous nuclear ribonucleoprotein C (HNRNPC) is an essential, ubiquitously
abundant protein involved in mRNA processing. Genetic variants in other members of the …