Darrel Waggoner

TL;DR: Chromosomal microarray (CMA) is increasingly utilized for genetic testing of individuals with unexplained developmental delay/intellectual disability (DD/ID), autism spectrum disorders (ASD), or multiple congenital anomalies (MCA).

TL;DR: Current evidence suggests a direct pathogenic role for copper in the pathogenesis of neuronal injury in Alzheimer's disease and the prion-mediated encephalopathies, suggesting that further elucidation of the mechanisms of copper trafficking and metabolism within the nervous system will be of direct relevance to the pathophysiology and treatment of neurodegenerative disease.

TL;DR: The essential role of any mammalian copper chaperone is demonstrated and have important implications for the development of novel therapeutic strategies in familial amyotrophic lateral sclerosis.

TL;DR: Current evidence supports recommendations for the management of CCM, but their generally low levels and classes mandate further research to better inform clinical practice and update these recommendations.

TL;DR: The data suggest that 93% of patients who have been clinically diagnosed with Sotos syndrome have identifiable NSD1 abnormalities, of which 83% are intragenic mutations and 10% are 5q35 microdeletions.