Magdalena Harakalova

TL;DR: This work analyzes the translatomes of 80 human hearts to identify new translation events and quantify the effect of translational regulation, and shows extensive translational control of cardiac gene expression, which is orchestrated in a process-specific manner.

TL;DR: Thirty new blood pressure– or hypertension-associated genetic regions in the general population are identified, including 3 rare missense variants in RBM47, COL21A1 and RRAS with larger effects than common variants.

TL;DR: Using exome sequencing, SERAC1 mutations are identified as the cause of MEGDEL syndrome, a recessive disorder of dystonia and deafness with Leigh-like syndrome, impaired oxidative phosphorylation and 3-methylglutaconic aciduria.

TL;DR: Using electrophysiological measurements, it is shown that mutations in ABCC9 reduce the ATP-mediated potassium channel inhibition, resulting in channel opening, and similarities between the phenotype of individuals with Cantú syndrome and side effects from the KATP channel agonist minoxidil indicate that the mutations inABCC9 result in channelOpening.