Erin Torti

TL;DR: The results show that de-novo variants in GRIA2 can cause neurodevelopmental disorders, complementing evidence that other genetic causes of ID, ASD and DEE also disrupt glutamatergic synaptic transmission.

TL;DR: Functional assays revealed that these MORC2 variants result in hyperactivation of epigenetic silencing by the HUSH complex, supporting their pathogenicity and expanding the spectrum of genetic disorders resulting from pathogenic variants in MORC1.

TL;DR: JAM2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification, suggesting that defective cell-to-cell adhesion and dysfunction of the movement of solutes through the paracellular spaces in the neurovascular unit is a key mechanism in CNS calcification.

TL;DR: The consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.

TL;DR: The data suggest LSS as a major gene causing a rare recessive neuroectodermal syndrome, formerly named alopecia with mental retardation (APMR) syndrome, is suggested.