Search Results - Dawes, Ruebena

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  1. 1
    Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data

    Empirical prediction of variant-activated cryptic splice donors using population-based RNA-Seq data by Dawes, Ruebena, Joshi, Himanshu, Cooper, Sandra T.

    Published in Nature communications
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  2. 2
    Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality

    Gene discovery informatics toolkit defines candidate genes for unexplained infertility and prenatal or infantile mortality by Dawes, Ruebena, Lek, Monkol, Cooper, Sandra T.

    Published in Npj genomic medicine
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  3. 3
    Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone

    Prevalence, parameters, and pathogenic mechanisms for splice-altering acceptor variants that disrupt the AG exclusion zone by Bryen, Samantha J., Yuen, Michaela, Joshi, Himanshu, Dawes, Ruebena, Zhang, Katharine, Lu, Jessica K., Jones, Kristi J., Liang, Christina, Wong, Wui-Kwan, Peduto, Anthony J., Waddell, Leigh B., Evesson, Frances J., Cooper, Sandra T.

    Published in HGG advances
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  4. 4
    Pro‐inflammatory dopamine‐2 receptor‐specific T cells in paediatric movement and psychiatric disorders

    Pro‐inflammatory dopamine‐2 receptor‐specific T cells in paediatric movement and psychiatric disorders by Pilli, Deepti, Zou, Alicia, Dawes, Ruebena, Lopez, Joseph A, Tea, Fiona, Liyanage, Ganesha, Lee, Fiona XZ, Merheb, Vera, Houston, Samuel D, Pillay, Aleha, Jones, Hannah F, Ramanathan, Sudarshini, Mohammad, Shekeeb, Kelleher, Anthony D, Alexander, Stephen I, Dale, Russell C, Brilot, Fabienne

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  5. 5
    Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint

    Refining clinically relevant parameters for mis-splicing risk in shortened introns with donor-to-branchpoint space constraint by Zhang, Katharine Y, Joshi, Himanshu, Marchant, Rhett G, Bryen, Samantha J, Dawes, Ruebena, Yuen, Michaela, Cooper, Sandra T, Evesson, Frances J

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