During neurogenesis, mitotic progenitor cells lining the ventricles of the embryonic mouse
brain undergo their final rounds of cell division, giving rise to a wide spectrum of postmitotic …

Despite years of active research into the role of DNA repair and replication in mutagenesis,
surprisingly little is known about the origin of spontaneous human mutation in the germ line …

Defects in DNA repair frequently lead to neurodevelopmental and neurodegenerative
diseases, underscoring the particular importance of DNA repair in long-lived post-mitotic …

Recent advances in understanding the genetic architecture of autism spectrum disorder
have allowed for unprecedented insight into its biological underpinnings. New studies have …

The extracellular protein Reelin, expressed by Cajal–Retzius (CR) cells at early stages of
cortical development and at late stages by GABAergic interneurons, regulates radial …

Although cell lineage information is fundamental to understanding organismal development,
very little direct information is available for humans. We performed high-depth (250×) whole …

Autism spectrum disorder (ASD) is a common neurodevelopmental condition affecting~ 1%
of people worldwide. Core ASD features present with impaired social communication …

Background Mosaic mutations contribute to numerous human disorders. As such, the
identification and precise quantification of mosaic mutations is essential for a wide range of …

Focal epilepsies are the largest epilepsy subtype and associated with significant morbidity.
Somatic variation is a newly recognized genetic mechanism underlying a subset of focal …

Copy number variants (CNVs) have been implicated in neuropsychiatric disorders, with rare-
inherited and de novo CNVs (dnCNVs) having large effects on disease liability. Recent …