Patrick Frosk

TL;DR: The analysis of this dataset showed that these known disease genes were not identified prior to WES enrollment for two key reasons: genetic heterogeneity associated with a clinical diagnosis and atypical presentation of known, clinically recognized diseases.

TL;DR: The mutation in the tripartite-motif-containing gene (TRIM32) that replaces aspartate with asparagine at position 487 appears to be the causative mutation of LGMD2H, which represents a new pathogenic mechanism leading to muscular dystrophy.

TL;DR: A whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance of the primary cilium is described and insights into ciliogenesis complexity and roles for unanticipated pathways in human genetic disease are provided.

TL;DR: These findings integrate TMEM237/JBTS-14 in a complex interaction network of TZ-associated proteins and reveal a growing contribution of a TZ functional module to the spectrum of ciliopathy phenotypes.

TL;DR: It is concluded that neuron loss occurs shortly after the encephalopathical crisis and does not progress, and the pathogenesis of selective neuronal loss cannot be explained on the basis of regional genetic and/or metabolic differences.