David J. Amor

TL;DR: This study suggests feasibility of ultra-rapid genomic testing in critically ill pediatric patients with suspected monogenic conditions in the Australian public health care system, however, further research is needed to understand the clinical value of such testing, and the generalizability of the findings to other health care settings.

TL;DR: The number of rare likely deleterious variants in functionally intolerant genes (“other hits”) correlated with expression of neurodevelopmental phenotypes in probands with 16p12.1 deletion and in autism probands carrying gene-disruptive variants (n=184, p=0.03) compared with their carrier family members.

TL;DR: Cerebral palsy risk genes in enriched pathways were shown to regulate neuromotor function in a Drosophila reverse genetics screen, providing evidence for genetically mediated dysregulation of early neuronal connectivity in cerebral palsy.

TL;DR: In this article, the authors used clinical data from 34 individuals with truncating variants in SPEN to define a neurodevelopmental disorder presenting with features that overlap considerably with those of proximal del1p36 syndrome.

TL;DR: The ATad3 locus is now one of the five most common causes of nuclear-encoded pediatric mitochondrial disease but the repetitive nature of the locus means ATAD3 diagnoses may be frequently missed by current genomic strategies.