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L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kevin","family":"Riquin","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nicolas","family":"Chatron","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; 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L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ben","family":"Weisburd","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; 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L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carlos A.","family":"Bacino","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David R.","family":"Murdock","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hongzheng","family":"Dai","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jill A.","family":"Rosenfeld","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lisa T.","family":"Emrick","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shamika","family":"Ketkar","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yael","family":"Sarusi","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Damien","family":"Sanlaville","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Saima","family":"Kayani","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Brian","family":"Broadbent","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alis\u00e9e","family":"Pengam","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bertrand","family":"Isidor","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Bezieau","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel G.","family":"MacArthur","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Igor","family":"Ulitsky","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; L\u2019institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de G\u00e9n\u00e9tique M\u00e9dicale (B.I., S.B., B.C.), Nantes Universit\u00e9, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyog\u00e8ne, Laboratoire Physiopathologie et G\u00e9n\u00e9tique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de G\u00e9n\u00e9tique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon \u2014 all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) a..."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gemma L.","family":"Carvill","sequence":"additional","affiliation":[{"name":"From the Broad Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of Massachusetts Institute of Technology and Harvard, Cambridge (V.S.G., M.C.O., J.K.G., K.V.G., E.E., B.W., F.A., D.G.M., A.O.-L.), and the Department of Neurology, Brigham and Women\u2019s Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children\u2019s Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston \u2014 all in Massachusetts; 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