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Showing 1–4 of 4 results
Advanced filters: Author: Emmanuèle Délot Clear advanced filters

  • Here, the authors present Paraphase, a HiFi-based informatics method that resolves highly similar genes located in segmental duplications. They apply Paraphase to 316 paralogous genes and summarize extensive genetic diversity across populations.

    • Xiao Chen
    • Daniel Baker
    • Michael A. Eberle
    ResearchOpen Access
    Nature Communications
    Volume: 16, P: 1-13

  • The non-coding RNA RNU4-2, which is highly expressed in the developing human brain, is identified as a syndromic neurodevelopmental disorder gene, and, using RNA sequencing, 5′ splice-site use is shown to be systematically disrupted in individuals with RNU4-2 variants.

    • Yuyang Chen
    • Ruebena Dawes
    • Nicola Whiffin
    ResearchOpen Access
    Nature
    Volume: 632, P: 832-840

  • Eric Vilain and colleagues identify missense mutations in the imprinted gene CDKN1C, encoding the p57KIP2 cyclin dependent kinase inhibitor, in individuals with IMAGe syndrome. IMAGe syndrome is a developmental disorder characterized by intrauterine growth restriction, metaphyseal dysplasia, adrenal hypoplasia congenita and genital anomalies.

    • Valerie A Arboleda
    • Hane Lee
    • Eric Vilain
    Research
    Nature Genetics
    Volume: 44, P: 788-792

  • Differences of sex development (DSD) are under-diagnosed, partly because of the complexity of conditions included under this umbrella terminology. This Review discusses the potential of genomic approaches to improve variant detection, molecular diagnosis and outcomes for individuals with DSD.

    • Emmanuèle C. Délot
    • Eric Vilain
    Reviews
    Nature Reviews Genetics
    Volume: 22, P: 588-602