Objective: To determine the phenotypic spectrum caused by mutations in GRIN1 encoding
the NMDA receptor subunit GluN1 and to investigate their underlying functional …

Purpose Despite a few recent reports of patients harboring truncating variants in NSD2, a
gene considered critical for the Wolf–Hirschhorn syndrome (WHS) phenotype, the clinical …

The human RNA helicase DDX6 is an essential component of membrane-less organelles
called processing bodies (PBs). PBs are involved in mRNA metabolic processes including …

Heterozygous missense variants in TRAF7 lead to various cancers when somatic and a multiple
congenital anomalies--intellectual disability syndrome (MCA-IDS) when germline (1, 2). …

The proteins encoded by TELO2, TTI1, and TTI2 interact to form the TTT complex, a co-chaperone
for maturation of the phosphatidylinositol 3-kinase-related protein kinases (PIKKs). …

The vast majority of human genes encode multiple isoforms through alternative splicing, and
the temporal and spatial regulation of those isoforms is critical for organismal development …

Mutations disrupting presynaptic protein TBC1D24 are associated with a variable neurological
phenotype, including DOORS syndrome, myoclonic epilepsy, early-infantile epileptic …

TRPM3 is a temperature- and neurosteroid-sensitive plasma membrane cation channel
expressed in a variety of neuronal and non-neuronal cells. Recently, rare de novo variants in …

Mutations of the X-linked gene encoding methyl-CpG-binding protein 2 (MECP2) cause
classical forms of Rett syndrome (RTT) in girls. A subset of patients who are recognized to have …

Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were
identified in patients with autism spectrum disorders, intellectual disability, aggression, and …