Paula Carroll

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BACKGROUND Mutations in microtubule-regulating genes are associated with disorders of neuronal migration and microcephaly. Regulation of centriole length has been shown to underlie the pathogenesis of certain ciliopathy phenotypes. Using a next-generation sequencing approach, we identified mutations in a novel centriolar disease gene in a kindred with an(More)
Aicardi-Goutières syndrome (AGS) provides a monogenic model of nucleic acid-mediated inflammation relevant to the pathogenesis of systemic autoimmunity. Mutations that impair ribonuclease (RNase) H2 enzyme function are the most frequent cause of this autoinflammatory disorder of childhood and are also associated with systemic lupus erythematosus. Reduced(More)
Extraction of events and understanding related temporal expression among them is a major challenge in natural language processing. In longer texts, processing on sentence-by-sentence or expression-by-expression basis often fails, in part due to the disregard for the consistency of the processed data. We present an ensemble method, which reconciles the(More)
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