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Sequencing of a Patient with Balanced Chromosome Abnormalities and Neurodevelopmental Disease Identifies Disruption of Multiple High Risk Loci by Structural Variation

  • Jonathon Blake,

    Affiliation Genomics Core Facility, EMBL Heidelberg, Heidelberg, Germany

  • Andrew Riddell,

    Current address: Wellcome Trust-MRC Stem Cell Institute, University of Cambridge, Cambridge, United Kingdom

    Affiliation Flow Cytometry Core Facility, EMBL Heidelberg, Heidelberg, Germany

  • Susanne Theiss,

    Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

  • Alexis Perez Gonzalez,

    Affiliation Flow Cytometry Core Facility, EMBL Heidelberg, Heidelberg, Germany

  • Bettina Haase,

    Affiliation Genomics Core Facility, EMBL Heidelberg, Heidelberg, Germany

  • Anna Jauch,

    Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

  • Johannes W. G. Janssen,

    Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

  • David Ibberson,

    Affiliations Genomics Core Facility, EMBL Heidelberg, Heidelberg, Germany, CellNetworks Sequencing Core Facility, University of Heidelberg, Heidelberg, Germany

  • Dinko Pavlinic,

    Affiliation Genomics Core Facility, EMBL Heidelberg, Heidelberg, Germany

  • Ute Moog,

    Affiliation Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany

  • Vladimir Benes,

    Affiliation Genomics Core Facility, EMBL Heidelberg, Heidelberg, Germany

  • Heiko Runz

    runz@uni-heidelberg.de

    Affiliations Institute of Human Genetics, University of Heidelberg, Heidelberg, Germany, Molecular Medicine Partnership Unit (MMPU), University of Heidelberg/EMBL, Heidelberg, Germany

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