Position effect, cryptic complexity, and direct gene disruption as disease mechanisms in de novo apparently balanced translocation cases

• Constantia Aristidou,

  Roles Investigation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

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• Athina Theodosiou,

  Roles Formal analysis, Software

  Affiliation Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

  http://orcid.org/0000-0003-4363-8162

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• Mads Bak,

  Roles Formal analysis, Software

  Affiliation Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark

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• Mana M. Mehrjouy,

  Roles Investigation

  Affiliation Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark

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• Efthymia Constantinou,

  Roles Investigation

  Affiliation Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

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• Angelos Alexandrou,

  Roles Investigation

  Affiliation Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

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• Ioannis Papaevripidou,

  Roles Investigation

  Affiliation Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

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• Violetta Christophidou-Anastasiadou,

  Roles Resources

  Affiliation Department of Clinical Genetics, The Cyprus Institute of Neurology and Genetics and Archbishop Makarios III Medical Centre, Nicosia, Cyprus

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• Nicos Skordis,

  Roles Resources

  Affiliations Division of Pediatric Endocrinology, Paedi Center for Specialized Pediatrics, Nicosia, Cyprus, St George’s University of London Medical School at the University of Nicosia, Nicosia, Cyprus

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• Sophia Kitsiou-Tzeli,

  Roles Resources

  Affiliation Department of Medical Genetics, Medical School, University of Athens, Athens, Greece

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• Niels Tommerup,

  Roles Funding acquisition, Methodology, Resources, Supervision, Validation

  Affiliation Wilhelm Johannsen Centre for Functional Genome Research, Department of Cellular and Molecular Medicine, University of Copenhagen, Copenhagen N., Denmark

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• Carolina Sismani

  Roles Conceptualization, Funding acquisition, Methodology, Project administration, Resources, Supervision, Visualization, Writing – review & editing

  * E-mail: csismani@cing.ac.cy

  Affiliations Department of Cytogenetics and Genomics, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus, The Cyprus School of Molecular Medicine, The Cyprus Institute of Neurology and Genetics, Nicosia, Cyprus

  http://orcid.org/0000-0002-9296-8347

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