Rare functional genetic variants in COL7A1, COL6A5, COL1A2 and COL5A2 frequently occur in Chiari Malformation Type 1

• Aintzane Urbizu,

  Roles Conceptualization, Data curation, Formal analysis, Funding acquisition, Investigation, Methodology, Project administration, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliations Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America, Pediatric Neurology Research Group, Vall d’Hebron Research Institute, Barcelona, Spain

  https://orcid.org/0000-0001-8458-1209

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• Melanie E. Garrett,

  Roles Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Software, Validation, Visualization, Writing – original draft, Writing – review & editing

  Affiliation Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America

  https://orcid.org/0000-0003-2302-6150

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• Karen Soldano,

  Roles Investigation, Methodology, Validation, Visualization, Writing – review & editing

  Affiliation Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America

  https://orcid.org/0000-0003-0326-8443

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• Oliver Drechsel,

  Roles Investigation, Writing – review & editing

  Affiliations Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain, Universitat Pompeu Fabra, Barcelona, Spain

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• Dorothy Loth,

  Roles Resources, Writing – review & editing

  Affiliation Department of Psychology, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America

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• Anna Marcé-Grau,

  Roles Validation, Writing – review & editing

  Affiliation Pediatric Neurology Research Group, Vall d’Hebron Research Institute, Barcelona, Spain

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• Olga Mestres i Soler,

  Roles Conceptualization

  Affiliation Neurotraumatology and Neurosurgery Research Unit, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain

  https://orcid.org/0000-0002-1548-5763

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• Maria A. Poca,

  Roles Resources, Writing – review & editing

  Affiliations Neurotraumatology and Neurosurgery Research Unit, Vall d’Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain, Department of Neurosurgery, Vall d’Hebron University Hospital, Universitat Autònoma de Barcelona, Barcelona, Spain

  https://orcid.org/0000-0002-3831-0536

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• Stephan Ossowski,

  Roles Methodology, Resources, Writing – review & editing

  Affiliations Genomic and Epigenomic Variation in Disease Group, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain, Universitat Pompeu Fabra, Barcelona, Spain

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• Alfons Macaya,

  Roles Methodology, Resources, Writing – review & editing

  Affiliation Pediatric Neurology Research Group, Vall d’Hebron Research Institute, Barcelona, Spain

  https://orcid.org/0000-0001-7998-4185

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• Francis Loth,

  Roles Funding acquisition, Resources, Writing – review & editing

  Affiliations Department of Biomedical Engineering, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America, Department of Mechanical Engineering, Conquer Chiari Research Center, University of Akron, Akron, OH, United States of America

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• Rick Labuda,

  Roles Writing – review & editing

  Affiliation Conquer Chiari, Wexford, PA, United States of America

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• Allison Ashley-Koch

  Roles Conceptualization, Funding acquisition, Investigation, Methodology, Project administration, Resources, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: allison.ashleykoch@duke.edu

  Affiliation Duke Molecular Physiology Institute, Duke University Medical Center, Durham, NC, United States of America

  https://orcid.org/0000-0001-5409-9155

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