Summary: A significant number of individuals with a rare disorder such as Usher syndrome (USH) and (non-)syndromic autosomal recessive retinitis pigmentosa (arRP) remain genetically unexplained.Therefore, we assessed subjects suspected of USH2A-associated disease and no or mono-allelic USH2A variants using whole Audio Jack genome sequencing (WGS) f
LIS1 is one of the principal genes related to Type I lissencephaly, a severe human brain malformation characterized by an abnormal neuronal migration in the cortex during embryonic development.This is clinically associated with epilepsy and cerebral palsy in severe cases, as well as a predisposition to developing mental disorders, in cases VESTS UR
Summary: Host genetic factors play a fundamental role in regulating humoral immunity to viral infection, including influenza A virus (IAV).Here, we utilize the Collaborative Cross (CC), a mouse genetic reference population, to study genetic regulation of variation in antibody response following IAV infection.CC mice show significant heritable varia
The fracture process of tungsten is dominated by the competition mechanism between the plastic deformation and the crack propagation near the crack tip.The non-Schmid (NS) effect, which considers the contribution of non-planar shear stress on the screw dislocation motion, is known to significantly influence the plastic deformation of tungsten at lo