The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes.

Chung-Jansen syndrome is a neurodevelopmental disorder characterized by intellectual disability, behavioral problems, obesity and dysmorphic features. It is caused by pathogenic variants in the PHIP gene that encodes for the Pleckstrin homology domain-interacting protein, which is part of an epigenetic modifier protein complex. Therefore, we hypothesized that PHIP haploinsufficiency may impact genome-wide DNA methylation (DNAm).

Model Selection and Parameter Inference in Phylogenetics Using Nested Sampling.

Bayesian inference methods rely on numerical algorithms for both model selection and parameter inference. In general, these algorithms require a high computational effort to yield reliable estimates. One of the major challenges in phylogenetics is the estimation of the marginal likelihood.

Intracranial abscess after anterior skull base defect: does pneumocephalus play a role?

Background: Intracranial complications of skull base defects are uncommon; however, they can be devastating when they do occur. Often these complications arise suddenly and without warning. Identifying patients at risk for intracranial abscesses may help with early diagnosis and allow for early interventions.