During evolution, the cerebral cortex advances by increasing in surface and the introduction
of new cytoarchitectonic areas among which the prefrontal cortex (PFC) is considered to be …

Synaptic dysfunction in CNS disorders is the outcome of perturbations in physiological
synapse structure and function, and can be either the cause or the consequence in specific …

The second Newborn Sequencing in Genomic Medicine and Public Health study was a
randomized, controlled trial of the effectiveness of rapid whole-genome or-exome …

Importance Variants of uncertain significance (VUSs) are rampant in clinical genetic testing,
frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses …

Copy number variants (CNVs) are deletions and duplications of DNA sequence. The most
frequently studied CNVs, which are described in this review, are recurrent CNVs that occur …

Genetic variants in chromatin regulators are frequently found in neurodevelopmental
disorders, but their effect in disease etiology is rarely determined. Here, we uncover and …

A large fraction of rare and severe neurodevelopmental disorders are caused by sporadic
de novo variants. Epidemiological disease estimates are not available for the vast majority of …

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

Pogo transposable element derived with ZNF domain (POGZ) has been identified as one of
the most recurrently de novo mutated genes in patients with neurodevelopmental disorders …

Objective Molecular genetic etiologies in epilepsy have become better understood in recent
years, creating important opportunities for precision medicine. Building on these advances …