Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease

• Carles Vilariño-Güell ,

  Roles Conceptualization, Funding acquisition, Supervision, Writing – original draft, Writing – review & editing

  * E-mail: carles@can.ubc.ca

  Affiliation Department of Medical Genetics, University of British Columbia, Vancouver, Canada

  http://orcid.org/0000-0002-5612-5940

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• Alexander Zimprich,

  Roles Formal analysis, Funding acquisition, Resources, Writing – review & editing

  Affiliation Department of Neurology, Medical University of Vienna, Vienna, Austria

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• Filippo Martinelli-Boneschi,

  Roles Data curation, Funding acquisition, Investigation, Supervision, Writing – review & editing

  Affiliations Laboratory of Human Genetics of Neurological Disorders, CNS Inflammatory Unit, Institute of Experimental Neurology, IRCCS San Raffaele Scientific Institute, Milan, Italy, MS Unit and Department of Neurology, IRCCS Policlinico San Donato, Milan, Italy, Department of Biomedical Sciences for Health, University of Milan, Milan, Italy

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• Bruno Herculano,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Townsend Family Laboratories, Department of Psychiatry, University of British Columbia, Vancouver, Canada

  http://orcid.org/0000-0003-0095-3381

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• Zhe Wang,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliations Townsend Family Laboratories, Department of Psychiatry, University of British Columbia, Vancouver, Canada, National Clinical Research Center for Geriatric Diseases, Xuanwu Hospital of the Capital Medical University, Beijing, China

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• Fuencisla Matesanz,

  Roles Funding acquisition, Investigation, Resources, Supervision, Writing – review & editing

  Affiliation Department of Cell Biology and Immunology, Instituto de Parasitología y Biomedicina López Neyra (IPBLN), CSIC, Granada, Spain

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• Elena Urcelay,

  Roles Funding acquisition, Investigation, Supervision, Writing – review & editing

  Affiliations Immunology Dept, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain, Red Española de Esclerosis Múltiple REEM, Madrid, Spain

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• Koen Vandenbroeck,

  Roles Formal analysis, Funding acquisition, Supervision, Writing – review & editing

  Affiliations Achucarro Basque Center for Neuroscience, Universidad del País Vasco (UPV/EHU), Leioa, Spain, Ikerbasque, Basque Foundation for Science, Bilbao, Spain

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• Laura Leyva,

  Roles Funding acquisition, Resources, Supervision, Writing – review & editing

  Affiliations Red Española de Esclerosis Múltiple REEM, Madrid, Spain, Instituto de Investigación Biomédica de Málaga-IBIMA, Unidad de Gestion Clínica de Neurociencias, Hospital Regional Universitario de Málaga, Málaga, Spain

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• Denis Gris,

  Roles Investigation, Writing – review & editing

  Affiliation Division of Immunology, Department of Pediatrics, CR-CHUS, Faculty of Medicine and Health Sciences, University of Sherbrooke, Sherbrooke, Canada

  http://orcid.org/0000-0003-1215-2434

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• Charbel Massaad,

  Roles Investigation, Writing – review & editing

  Affiliation Toxicology, Pharmacology and Cell Signalisation—UMR-S 1124 Université Paris Descartes, Paris, France

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• Jacqueline A. Quandt,

  Roles Investigation, Writing – review & editing

  Affiliation Department of Pathology, Faculty of Medicine, University of British Columbia, Vancouver, Canada

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• Anthony L. Traboulsee,

  Roles Funding acquisition, Investigation, Writing – review & editing

  Affiliation Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada

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• Mary Encarnacion,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Medical Genetics, University of British Columbia, Vancouver, Canada

  ⨯
• Cecily Q. Bernales,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Medical Genetics, University of British Columbia, Vancouver, Canada

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• Jordan Follett,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Medical Genetics, University of British Columbia, Vancouver, Canada

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• Irene M. Yee,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Medical Genetics, University of British Columbia, Vancouver, Canada

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• Maria G. Criscuoli,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Medical Genetics, University of British Columbia, Vancouver, Canada

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• Angela Deutschländer,

  Roles Investigation, Supervision, Writing – review & editing

  Affiliations Department of Neurology, Mayo Clinic Florida, Jacksonville, FL, United States of America, Department of Clinical Genomics, Mayo Clinic Florida, Jacksonville, FL, United States of America, Department of Neuroscience, Mayo Clinic Florida, Jacksonville, FL, United States of America

  http://orcid.org/0000-0002-4071-9090

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• Eva M. Reinthaler,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Neurology, Medical University of Vienna, Vienna, Austria

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• Tobias Zrzavy,

  Roles Data curation, Formal analysis, Investigation, Writing – review & editing

  Affiliation Department of Neurology, Medical University of Vienna, Vienna, Austria

  http://orcid.org/0000-0001-8909-1591

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• Elisabetta Mascia,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Laboratory of Human Genetics of Neurological Disorders, CNS Inflammatory Unit, Institute of Experimental Neurology, IRCCS San Raffaele Scientific Institute, Milan, Italy

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• Andrea Zauli,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Laboratory of Human Genetics of Neurological Disorders, CNS Inflammatory Unit, Institute of Experimental Neurology, IRCCS San Raffaele Scientific Institute, Milan, Italy

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• Federica Esposito,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Laboratory of Human Genetics of Neurological Disorders, CNS Inflammatory Unit, Institute of Experimental Neurology, IRCCS San Raffaele Scientific Institute, Milan, Italy

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• Antonio Alcina,

  Roles Data curation, Funding acquisition, Investigation, Resources, Writing – review & editing

  Affiliation Department of Cell Biology and Immunology, Instituto de Parasitología y Biomedicina López Neyra (IPBLN), CSIC, Granada, Spain

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• Guillermo Izquierdo,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliation Unidad de Esclerosis Múltiple, Hospital Virgen Macarena, Sevilla, Spain

  http://orcid.org/0000-0002-6340-5609

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• Laura Espino-Paisán,

  Roles Data curation, Investigation, Writing – review & editing

  Affiliations Immunology Dept, Hospital Clínico San Carlos, Instituto de Investigación Sanitaria del Hospital Clínico San Carlos (IdISSC), Madrid, Spain, Red Española de Esclerosis Múltiple REEM, Madrid, Spain

  http://orcid.org/0000-0001-9136-4106

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• Jorge Mena,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Achucarro Basque Center for Neuroscience, Universidad del País Vasco (UPV/EHU), Leioa, Spain

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• Alfredo Antigüedad,

  Roles Resources, Supervision, Writing – review & editing

  Affiliation Neurology Department, Hospital Universitario de Cruces, S/N, Baracaldo, Spain

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• Patricia Urbaneja-Romero,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliations Red Española de Esclerosis Múltiple REEM, Madrid, Spain, Instituto de Investigación Biomédica de Málaga-IBIMA, Unidad de Gestion Clínica de Neurociencias, Hospital Regional Universitario de Málaga, Málaga, Spain

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• Jesús Ortega-Pinazo,

  Roles Formal analysis, Investigation, Writing – review & editing

  Affiliation Instituto de Investigación Biomédica de Málaga-IBIMA, Unidad de Gestion Clínica de Neurociencias, Hospital Regional Universitario de Málaga, Málaga, Spain

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• Weihong Song ,

  Contributed equally to this work with: Weihong Song, A. Dessa Sadovnick

  Roles Funding acquisition, Resources, Supervision, Writing – review & editing

  Affiliation Townsend Family Laboratories, Department of Psychiatry, University of British Columbia, Vancouver, Canada

  http://orcid.org/0000-0001-9928-889X

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•  [ ... ],
• A. Dessa Sadovnick

  Contributed equally to this work with: Weihong Song, A. Dessa Sadovnick

  Roles Funding acquisition, Investigation, Resources, Supervision, Writing – review & editing

  Affiliations Department of Medical Genetics, University of British Columbia, Vancouver, Canada, Division of Neurology, Faculty of Medicine, University of British Columbia, Vancouver, Canada

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