Hilary Racher

TL;DR: A consistent loss-of-function effect of all tested de novo mutations on the Wnt pathway is demonstrated, and a differential effect by gender is shown, possibly reflects a dose-dependent effect of DDX3X expression in the context of functional mosaic females versus one-copy males, which reflects the complex biological nature of DDx3X mutations.

TL;DR: It is found that mutations in SF3B4, a component of the U2 pre-mRNA spliceosomal complex, cause Nager syndrome and this work highlights the synergistic potential of international collaboration when exome sequencing is applied in the search for genes responsible for rare Mendelian phenotypes.

TL;DR: The Pumilio homolog, PUF-8, is identified as an inhibitor of the proliferative fate of stem cells in the C. elegans germline through negatively regulating GLP-1/Notch signaling or by functioning parallel to it.

TL;DR: It is shown that de novo variants in FBXO11 cause a syndromic form of ID, and the power of reverse phenotyping in the interpretation of novel genetic variances in individuals who initially did not appear to have a clear recognizable phenotype.

TL;DR: The role of translational control in the formation of functional gametes in the C. elegans has been discussed in this article, where the development of a fully developed gamete from an undifferentiated germ cell requires progression through numerous developmental stages and cell fate decisions.