Background The development of an autistic brain is a highly complex process as evident
from the involvement of various genetic and non-genetic factors in the etiology of the autism …

Given its chronicity, contribution to disability and morbidity, and prevalence of more than 2%,
the effective treatment, and prevention of bipolar disorder represents an area of significant …

Gene-disruptive mutations contribute to the biology of neurodevelopmental disorders
(NDDs), but most of the related pathogenic genes are not known. We sequenced 208 …

Intellectual disability (ID) affects approximately 1%–3% of humans with a gender bias toward
males. Previous studies have identified mutations in more than 100 genes on the X …

The current standard of care for diagnosis of severe intellectual disability (ID) and epileptic
encephalopathy (EE) results in a diagnostic yield of∼ 50%. Affected individuals nonetheless …

Purpose: This study investigated whole-exome sequencing (WES) yield in a subset of
intellectually disabled patients referred to our clinical diagnostic center and calculated the …

Canonical WNT signaling through Frizzled and LRP5/6 receptors is transduced to the
WNT/β-catenin and WNT/stabilization of proteins (STOP) signaling cascades to regulate cell …

CTNNB1 is the gene that encodes β-catenin which acts as a key player in the Wnt signaling
pathway and regulates cellular homeostasis. Most CTNNB1-related studies have been …

Background Genetic factors play a major role in the risk for neurodevelopmental disorders
such as autism spectrum disorders (ASDs) and intellectual disability (ID). The underlying …

FtsJ RNA 2′-O-methyltransferase 1 (FTSJ1) gene has been implicated in X-linked
intellectual disability (XLID), but the molecular pathogenesis is unknown. We show that Ftsj1 …