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  1. Article

    Open Access

    SH2B3 inactivation through CN-LOH 12q is uniquely associated with B-cell precursor ALL with iAMP21 or other chromosome 21 gain

    In more than 30% of B-cell precursor acute lymphoblastic leukaemia (B-ALL), chromosome 21 sequence is overrepresented through aneuploidy or structural rearrangements, exemplified by intrachromosomal amplificat...

    Paul B. Sinclair, Sarra Ryan, Matthew Bashton, Shaun Hollern, Rebecca Hanna… in Leukemia (2019)

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  2. Article

    Open Access

    Concordance of copy number abnormality detection using SNP arrays and Multiplex Ligation-dependent Probe Amplification (MLPA) in acute lymphoblastic leukaemia

    In acute lymphoblastic leukaemia, MLPA has been used in research studies to identify clinically relevant copy number abnormality (CNA) profiles. However, in diagnostic settings other techniques are often emplo...

    Matthew Bashton, Robin Hollis, Sarra Ryan, Claire J. Schwab… in Scientific Reports (2020)

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  3. Article

    Open Access

    Whole genome sequencing provides comprehensive genetic testing in childhood B-cell acute lymphoblastic leukaemia

    Childhood B-cell acute lymphoblastic leukaemia (B-ALL) is characterised by recurrent genetic abnormalities that drive risk-directed treatment strategies. Using current techniques, accurate detection of such ab...

    Sarra L. Ryan, John F. Peden, Zoya Kingsbury, Claire J. Schwab, Terena James… in Leukemia (2023)

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