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SummaryWe present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n=35,584 total samples, 11,986 with ASD). Using an enhanced Bayesian framework to integrate de novo and case-control rare variation, we identify 102 risk genes at a false discovery rate ≤ 0.1. Of these genes, 49 show higher frequencies of disruptive de novo variants in individuals ascertained for severe neurodevelopmental delay, while 53 show higher frequencies in individuals ascertained for ASD; comparing ASD cases with mutations in these groups reveals phenotypic differences. Expressed early in brain development, most of the risk genes have roles in regulation of gene expression or neuronal communication (i.e., mutations effect neurodevelopmental and neurophysiological changes), and 13 fall within loci recurrently hit by copy number variants. In human cortex single-cell gene expression data, expression of risk genes is enriched in both excitatory and inhibitory neuronal lineages, consistent with multiple paths to an excitatory/inhibitory imbalance underlying ASD.

We report a measurement of the branching fraction ratios R(D ( * ) ) ofB → D ( * ) τ −ν τ relative tō B → D ( * ) −ν (where = e or µ) using the full Belle data sample of 772 × 10 6 BB pairs collected at the Υ(4S) resonance with the Belle detector at the KEKB asymmetric-energy e + e − collider. The measured values are R(D) = 0.375 ± 0.064(stat.) ± 0.026(syst.) and R(D * ) = 0.293 ± 0.038(stat.) ± 0.015(syst.). The analysis uses hadronic reconstruction of the tag-side B meson and purely leptonic τ decays. The results are consistent with earlier measurements and do not show a significant deviation from the standard model prediction.

Recent large-scale seagrass declines have prompted experimental investigations of potential mechanisms. Although many studies have implicated eutrophication or reductions of epi-phyte grazers in these declines, few experiments have simultaneously manipulated both factors to assess their relative effects. This study used meta-analyses of 35 published seagrass studies to compare the relative strength of 'top-down' grazer effects and 'bottom-up' nutrient effects on epiphyte biomass and seagrass above-ground growth rate, above-ground biomass, below-ground biomass, and shoot density. A surprising result was that seagrass growth and biomass were limited in situ by sediment nutrients; light limitation has been emphasized in the literature to date. Water column enrichments, which were correlated with increased epiphyte biomass, had strong negative effects on seagrass biomass. Grazers overall had a positive effect on shoot density, but negligible effects on sea-grass biomass and growth rate. However, analyzing epiphyte grazers separately from other grazers revealed positive effects of grazing on seagrass response variables and corresponding negative impacts on epiphyte biomass. The positive effects of epiphyte grazers were comparable in magnitude to the negative impacts of water column nutrient enrichment, suggesting that the 2 factors should not be considered in isolation of each other. Until the determinants of epiphyte grazer populations are empirically examined, it will be difficult to address the contribution that overfishing and cascading trophic effects have had on seagrass decline. Because increases in water column nutrients are documented in many regions, efforts to reduce coastal eutrophication are an appropriate and necessary focus for the management and conservation of seagrass ecosystems. KEY WORDS: Seagrasses · Meta-analysis · Epiphyte · Nutrients · Grazers · Management · Eutrophication · Top-down/bottom-up Resale or republication not permitted without written consent of the publisher herbivory, and substratum turnover. Limnol Oceanogr 32: 986-992 Brooks JL, Dodson SI (1965) Predation, body size and composition of plankton. Science 150:28-35 Camp DK, Cobb SP, Van Breedfield JV (1973) Overgrazing of seagrasses by a regular urchin, Lytechinus variegatus.

Identified pi(+/-), K(+/-), p, and (-)p transverse momentum spectra at midrapidity in sqrt[s(NN)] = 130 GeV Au+Au collisions were measured by the PHENIX experiment at RHIC as a function of collision centrality. Average transverse momenta increase with the number of participating nucleons in a similar way for all particle species. Within errors, all midrapidity particle yields per participant are found to be increasing with the number of participating nucleons. There is an indication that K(+/-), p, and (-)p yields per participant increase faster than the pi(+/-) yields. In central collisions at high transverse momenta (p(T) > or =2 GeV/c), (-)p and p yields are comparable to the pi(+/-) yields.