Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

Development of effective therapies against SARS-CoV-2 infections relies on mechanistic
knowledge of virus-host interface. Abundant physical interactions between viral and host …

The degeneration of axons and their terminals occurs following traumatic, toxic, or
genetically-induced insults. Common molecular mechanisms unite these disparate triggers …

We examined the utility of clinical and research processes in the reanalysis of publicly‐
funded clinical exome sequencing data in Ontario, Canada. In partnership with eight sites …

Abstract Two Jack-Russell Terrier× Chihuahua mixed-breed littermates with Leigh syndrome
were investigated. The dogs presented with progressive ataxia, dystonia, and increased …

The introduction of clinical exome sequencing (ES) has provided a unique opportunity to
decrease the diagnostic odyssey for patients living with a rare genetic disease (RGD). ES …

Abstract Purpose Fem1 homolog B (FEM1B) acts as a substrate recognition subunit for
ubiquitin ligase complexes belonging to the CULLIN 2-based E3 family. Several biological …

Methods Evaluating previously reported proteins in two untreated melanoma cohorts, we
used a published predictive model (EaSIeR score) to identify potential proteins …

Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4, 5-bisphosphate into
inositol 1, 4, 5-trisphosphate and diacylglycerol, important signaling molecules involved in …

MTSS2-related neurodevelopmental disorder (MTSS2-related NDD)(MIM 620086) is
characterized by intellectual developmental disorder with ocular anomalies and distinctive …