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Neurogenetics
Original research
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics

Authors

  • Quentin Thomas Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France Neurology Department, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Antonio Vitobello Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Frederic Tran Mau-Them Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Yannis Duffourd Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Agnès Fromont Neurology Department, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Maurice Giroud Neurology Department, Dijon University Hospital, Dijon, Burgundy, France Dijon Stroke Registry, EA7460, Pathophysiology and Epidemiology of Cerebro-Cardiovascular Diseases (PEC2), University of Burgundy and Franche-Comté, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Benoit Daubail Department of Adult Neurophysiology, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Agnès Jacquin-Piques Department of Adult Neurophysiology, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Marie Hervieu-Begue Neurology Department, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Thibault Moreau Neurology Department, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Guy-Victor Osseby Neurology Department, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Philippine Garret Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Sophie Nambot Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Julian Delanne Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Ange-Line Bruel Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Arthur Sorlin Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Patrick Callier Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Anne-Sophie Denomme-Pichon Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Laurence Faivre Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Yannick Béjot Neurology Department, Dijon University Hospital, Dijon, Burgundy, France Dijon Stroke Registry, EA7460, Pathophysiology and Epidemiology of Cerebro-Cardiovascular Diseases (PEC2), University of Burgundy and Franche-Comté, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Christophe Philippe Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Christel Thauvin-Robinet Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France Functional Unity of innovative diagnosis for rare diseases, Dijon Bourgogne University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  • Sébastien Moutton Inserm UMR1231 team GAD, University of Burgundy and Franche-Comté, Dijon, France Genetics Center, FHU-TRANSLAD, Dijon University Hospital, Dijon, Burgundy, France PubMed articlesGoogle scholar articles
  1. Correspondence to Quentin Thomas, Inserm UMR1231 team GAD, University of Burgundy, Dijon 21000, France; quentin.thomas{at}chu-dijon.fr
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Citation

Thomas Q, Vitobello A, Tran Mau-Them F, et al
High efficiency and clinical relevance of exome sequencing in the daily practice of neurogenetics
Journal of Medical Genetics 2022;59:445-452.

Publication history

  • Received July 24, 2020
  • Revised February 8, 2021
  • Accepted February 19, 2021
  • First published March 5, 2021.
Online issue publication 
April 22, 2022

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© Author(s) (or their employer(s)) 2022. No commercial re-use. See rights and permissions. Published by BMJ.