Christian Desaintes

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In 2007, the International Knockout Mouse Consortium (IKMC) made the ambitious promise to generate mutations in virtually every protein-coding gene of the mouse genome in a concerted worldwide action. Now, 5 years later, the IKMC members have developed high-throughput gene trapping and, in particular, gene-targeting pipelines and generated more than 17,400(More)
PURPOSE This study is part of a general search for the anatomical bases of the severe mental retardation syndrome caused by prenatal irradiation. More specifically, it seeks reasons for the high radiosensitivity of a white matter area, the cingulum of the corpus callosum. MATERIALS AND METHODS Pregnant primiparous Wistar rats were exposed to X-rays at 12,(More)
Sequencing projects have identified large numbers of rare stop gain and frameshift variants in the human genome. Because most of these are observed in the heterozygous state, they test the genome's tolerance to dominant loss of function. We analyzed the distribution of truncating variants in 16818 protein coding autosomal genes from the exomes of 11546(More)
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