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  1. Article

    Open Access

    Ultra-sensitive molecular detection of gene fusions from RNA using ASPYRE

    RNA is a critical analyte for unambiguous detection of actionable mutations used to guide treatment decisions in oncology. Currently available methods for gene fusion detection include molecular or antibody-ba...

    Eleanor R Gray, Justyna M Mordaka, Efthimia R Christoforou… in BMC Medical Genomics (2022)

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  2. Article

    Open Access

    Diverse mutational landscapes in human lymphocytes

    The lymphocyte genome is prone to many threats, including programmed mutation during differentiation1, antigen-driven proliferation and residency in diverse microenvironments. Here, after develo** protocols for...

    Heather E. Machado, Emily Mitchell, Nina F. Øbro, Kirsten Kübler, Megan Davies… in Nature (2022)

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  3. No Access

    Article

    Somatic mutation landscapes at single-molecule resolution

    Somatic mutations drive the development of cancer and may contribute to ageing and other diseases1,2. Despite their importance, the difficulty of detecting mutations that are only present in single cells or small...

    Federico Abascal, Luke M. R. Harvey, Emily Mitchell, Andrew R. J. Lawson… in Nature (2021)

  4. Article

    Open Access

    Timing the initiation of multiple myeloma

    The evolution and progression of multiple myeloma and its precursors over time is poorly understood. Here, we investigate the landscape and timing of mutational processes sha** multiple myeloma evolution in ...

    Even H. Rustad, Venkata Yellapantula, Daniel Leongamornlert… in Nature Communications (2020)

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  5. No Access

    Article

    The landscape of somatic mutation in normal colorectal epithelial cells

    The colorectal adenoma–carcinoma sequence has provided a paradigmatic framework for understanding the successive somatic genetic changes and consequent clonal expansions that lead to cancer1. However, our underst...

    Henry Lee-Six, Sigurgeir Olafsson, Peter Ellis, Robert J. Osborne… in Nature (2019)

  6. No Access

    Article

    Population dynamics of normal human blood inferred from somatic mutations

    Haematopoietic stem cells drive blood production, but their population size and lifetime dynamics have not been quantified directly in humans. Here we identified 129,582 spontaneous, genome-wide somatic mutati...

    Henry Lee-Six, Nina Friesgaard Øbro, Mairi S. Shepherd, Sebastian Grossmann… in Nature (2018)

  7. No Access

    Article

    Aberrant alternative splicing and extracellular matrix gene expression in mouse models of myotonic dystrophy

    Myotonic dystrophy is a CUG repeat expansion disease and mice deficient in MBNL1, an RNA binding protein, show many characteristics of the disease. Comparison of gene expression profiles of two mouse models of...

    Hongqing Du, Melissa S Cline, Robert J Osborne… in Nature Structural & Molecular Biology (2010)

  8. No Access

    Article

    Reduced TFAP2A function causes variable optic fissure closure and retinal defects and sensitizes eye development to mutations in other morphogenetic regulators

    Mutations in the transcription factor encoding TFAP2A gene underlie branchio-oculo-facial syndrome (BOFS), a rare dominant disorder characterized by distinctive craniofacial, ocular, ectodermal and renal anomalie...

    Gaia Gestri, Robert J. Osborne, Alexander W. Wyatt, Dianne Gerrelli… in Human Genetics (2009)