Monica H. Wojcik

TL;DR: De novo missense variants explained a larger proportion of individuals in the series than in other series that were primarily ascertained because of ID, indicating that the genetic landscape of DEE might be different from that of ID without epilepsy.

TL;DR: The role of monogenic variants across the range of dystonic disorders is determined, providing guidance for the introduction of personalised care strategies and fostering follow-up pathophysiological explorations.

TL;DR: Phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, leading to faster and more accurate diagnoses, reducing unnecessary testing and procedures, and informing medical care.

TL;DR: Patient histone posttranslational modifications (PTMs) analysis revealed notably aberrant local PTM patterns distinct from the somatic lysine mutations that cause global PTM dysregulation, suggesting that the mechanism of germline mutations are distinct from cancer-associated somatic histone mutations but may converge on control of cell proliferation.

TL;DR: Reanalysis of negative CES in a research setting enhances diagnostic yield by about a third, suggesting the need for comprehensive, continued reanalysis of exome data when molecular diagnosis is elusive.