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  1. Article

    Open Access

    Defects in autophagosome-lysosome fusion underlie Vici syndrome, a neurodevelopmental disorder with multisystem involvement

    Vici syndrome (VICIS) is a rare, autosomal recessive neurodevelopmental disorder with multisystem involvement characterized by agenesis of the corpus callosum, cataracts, cardiomyopathy, combined immunodeficie...

    Ikumi Hori, Takanobu Otomo, Mitsuko Nakashima, Fuyuki Miya… in Scientific Reports (2017)

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    Article

    An atlas of active enhancers across human cell types and tissues

    Enhancers control the correct temporal and cell-type-specific activation of gene expression in multicellular eukaryotes. Knowing their properties, regulatory activity and targets is crucial to understand the r...

    Robin Andersson, Claudia Gebhard, Irene Miguel-Escalada, Ilka Hoof… in Nature (2014)