Jane Juusola

TL;DR: The experience with the first 3,040 WES cases suggests that analysis of trios significantly improves the diagnostic yield compared with proband-only testing for genetically heterogeneous disorders and facilitates identification of novel candidate genes.

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: The molecular data, combined with review of the literature, show that PIK3CA-related overgrowth disorders comprise a discontinuous spectrum of disorders that correlate with the severity and distribution of mutations.

TL;DR: Using whole-exome sequencing, in ten families 14 individuals with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants in spermatogenesis-associated protein 5 (SPATA5) are identified.

TL;DR: The importance of CAMK 2A and CAMK2B and their auto-phosphorylation in human brain function is established and the phenotypic spectrum of the disorders caused by variants in key players of the glutamatergic signaling pathway is expanded.