Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes that are crucial for the function …

Genetic variants that inactivate protein-coding genes are a powerful source of information
about the phenotypic consequences of gene disruption: genes critical for an organism’s …

The 2013–2015 West African epidemic of Ebola virus disease (EVD) reminds us of how little
is known about biosafety level 4 viruses. Like Ebola virus, Lassa virus (LASV) can cause …

In this Article, author Marquis P. Vawter was missing from the Genome Aggregation
Database Consortium list. They are associated with the affiliation:‘Department of Psychiatry & …

Purpose Several hundred genetic muscle diseases have been described, all of which are
rare. Their clinical and genetic heterogeneity means that a genetic diagnosis is challenging. …

Databases of human population genetic variation, such as the Genome Aggregation Database
(gnomAD), are generally expected to be depleted for variation with severe effects on …

JAG2 encodes the Notch ligand Jagged2. The conserved Notch signaling pathway contributes
to the development and homeostasis of multiple tissues, including skeletal muscle. We …

Dubowitz syndrome (DubS) is considered a recognizable syndrome characterized by a
distinctive facial appearance and deficits in growth and development. There have been over 200 …

Zinc finger protein 462 (ZNF462) is a relatively newly discovered vertebrate specific protein
with known critical roles in embryonic development in animal models. Two case reports and …

The collapsin response mediator protein (CRMP) family proteins are intracellular mediators
of neurotrophic factors regulating neurite structure/spine formation and are essential for …