15 research outputs found
Utilization of integrated correlative light and electron microscopy (iCLEM) for imaging sedimentary organic matter
Stratigraphy, diagenesis and geological evolution of the Paleoproterozoic Roraima Basin, Guyana: Links to tectonic events on the Amazon Craton and assessment for uranium mineralization potential
BAZ2B haploinsufficiency as a cause of developmental delay, intellectual disability, and autism spectrum disorder
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220420.pdf (Publisher’s version ) (Closed access)The bromodomain adjacent to zinc finger 2B gene (BAZ2B) encodes a protein involved in chromatin remodeling. Loss of BAZ2B function has been postulated to cause neurodevelopmental disorders. To determine whether BAZ2B deficiency is likely to contribute to the pathogenesis of these disorders, we performed bioinformatics analyses that demonstrated a high level of functional convergence during fetal cortical development between BAZ2B and genes known to cause autism spectrum disorder (ASD) and neurodevelopmental disorder. We also found an excess of de novo BAZ2B loss-of-function variants in exome sequencing data from previously published cohorts of individuals with neurodevelopmental disorders. We subsequently identified seven additional individuals with heterozygous deletions, stop-gain, or de novo missense variants affecting BAZ2B. All of these individuals have developmental delay (DD), intellectual disability (ID), and/or ASD. Taken together, our findings suggest that haploinsufficiency of BAZ2B causes a neurodevelopmental disorder, whose cardinal features include DD, ID, and ASD
Functional morphology of the head of Hawaiian and Mid-Pacific butterflyfishes (Perciformes, Chaetodontidae)
Dynamic sedimentation of Paleoproterozoic continental margin iron formation, Labrador Trough, Canada: Paleoenvironments and sequence stratigraphy
Seismological studies of ZZ Ceti stars
10.1016/S0140-6736(97)08233-0Lancet35090841047-1059LANC