Karlla W. Brigatti

TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.

TL;DR: There is a critical unmet need for safe and effective disease-modifying therapies for MSUD which can be implemented early in life and key insights into the design of new therapies based on gene replacement or editing are afforded.

TL;DR: In this article, the authors used forebrain organoids generated from induced pluripotent stem cells of patients with a syndromic form of autism spectrum disorder (ASD) with a homozygous protein-truncating mutation in CNTNAP2, to study its effects on embryonic cortical development.

TL;DR: It is suggested that CRADD/caspase-2 signaling is critical for normal gyration of the developing human neocortex and for normal cognitive ability.

TL;DR: CMA and family-based WES streamline and economize diagnosis of rare genetic disorders, accelerate novel gene discovery, and create new opportunities for community-based screening and prevention in underserved populations.