The development of whole exome/genome sequencing technologies has given rise to an
unprecedented volume of data linking patient genomic variability to brain disorder …

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

Background Whole-exome sequencing has transformed gene discovery and diagnosis in
rare diseases. Translation into disease-modifying treatments is challenging, particularly for …

Background We aimed for a comprehensive delineation of genetic, functional and
phenotypic aspects of GRIN2B encephalopathy and explored potential prospects of …

Advances in sequencing technology have generated a large amount of genetic data from
patients with neurological conditions. These data have provided diagnosis of many rare …

Epilepsy and intellectual disability are associated with rare variants in the GluN2A and
GluN2B (encoded by GRIN2A and GRIN2B) subunits of the N-methyl-D-aspartate receptor …

Diagnosis at the edges of our knowledge calls upon clinicians to be data driven, cross-
disciplinary, and collaborative in unprecedented ways. Exact disease recognition, an …

Many scientists complain that the current funding situation is dire. Indeed, there has been an
overall decline in support in funding for research from the National Institutes of Health and …

N-Methyl-d-Aspartate Receptors (NMDARs) are ionotropic glutamate-gated receptors.
NMDARs are tetramers composed by several homologous subunits of GluN1-, GluN2-, or …

Introduction The inability of some seriously and chronically ill individuals to receive a
definitive diagnosis represents an unmet medical need. In 2008, the NIH Undiagnosed …