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Exome sequencing of 343 families, each with a single child on the autism spectrum and at least one unaffected sibling, reveal de novo small indels and point substitutions, which come mostly from the paternal line in an age-dependent manner. We do not see significantly greater numbers of de novo missense mutations in affected versus unaffected children, but(More)
Chronux is an open-source software package developed for the analysis of neural data. The current version of Chronux includes software for signal processing of neural time-series data including several specialized mini-packages for spike-sorting, local regression, audio segmentation, and other data-analysis tasks typically encountered by a neuroscientist.(More)
Genomic analysis provides insights into the role of copy number variation in disease, but most methods are not designed to resolve mixed populations of cells. In tumours, where genetic heterogeneity is common, very important information may be lost that would be useful for reconstructing evolutionary history. Here we show that with flow-sorted nuclei, whole(More)
Praziquantel, (2-cyclohexylcarbonyl)-1,2,3,6,7,11b-hexa-hydro-2H pyrazino[2,1a]isoquinolin-4-one, belongs to a new series of antischistosomal compounds. The results of a detailed study of the efficacy of praziquantel on Schistosoma mansoni in mice, Mastomys and Syrian hamsters are described. Praziquantel is effective after oral and all parenteral routes of(More)
Whole exome sequencing has proven to be a powerful tool for understanding the genetic architecture of human disease. Here we apply it to more than 2,500 simplex families, each having a child with an autistic spectrum disorder. By comparing affected to unaffected siblings, we show that 13% of de novo missense mutations and 43% of de novo likely(More)
The fine structure of the tegument of three trematode species,Schistosoma mansoni, Dicrocoelium dendriticum, andFasciola hepatica, was studied by means of light scanning (SEM) and transmission electron microscopy (TEM) after in vitro exposure to 0, 1,10, and 100 μg/ml of the anthelmintic praziquantel for 5, 15, 30, and 60 min. InS. mansoni andD. dendriticum(More)
AdultHymenolepis diminuta, H. microstoma, H. nana, Echinococcus multilocularis, andTaenia (Hydatigera)taeniaeformis have been exposed in vitro in media containing 0.1 to 100 μg praziquantel/ml. Already after 5 min characteristic tegumental lesions, that were restricted to the growth zone of the neck region, were recognized using both scanning and(More)
The effects of 2-cyclohexylcarbonyl-1,2,3,6,7,11b-hexahydro-4H-pyrazino[2,1-a]isoquinolin-4-one (praziquantel, EMBAY 8440, Biltricide) on Schistosoma mansoni was studied in vivo and in vitro by means of electron microscopy. It was found that 1. worms were contracted and became dislodged to the liver; 2. intensive vacuolisation occurred at distinct sites of(More)