부산대학교 도서관

Whiffin, N; Armean, IM; Kleinman, A; Marshall, JL; Minikel, EV; Goodrich, JK; Quaife, NM; Cole, JB; Wang, Q; Karczewski, KJ

NATURE MEDICINE. 26(6):869-877

Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. sgudmund@broadinstitute.org.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. sgudmund@broadinstitute.org.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. sgudmund@broadinstitute.org.; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden. sgudmund@broadinstitute.org.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Einson J; New York Genome Center, New York, NY, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lappalainen T; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; New York Genome Center, New York, NY, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. odonnell@broadinstitute.org.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. odonnell@broadinstitute.org.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. odonnell@broadinstitute.org.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Genetics (GENETICS), Dec2025; 231(4): 1-1. (1p)

Whiffin, N; Armean, IM; Kleinman, A; Marshall, JL; Minikel, EV; Goodrich, JK; Quaife, N; Cole, JB; Wang, Q; Karczewski, KJ; Cummings, BB; Francioli, L; Laricchia, K; Guan, A; Alipanahi, B; Morrison, P; Baptista, MAS; Merchant, KM; Genome Aggregation Database Production Team^, Genome Aggregation Database Consortium; Ware, J; Havulinna, AS; Iliadou, B; Lee, J-J; Nadkarni, GN; Whiteman, C; Daly, M; Esko, T; Hultman, C; Loos, RJF; Milani, L; Palotie, A; Pato, C; Pato, M; Saleheen, D; Sullivan, PF; Alföldi, J; Cannon, P; MacArthur, DG

Whiffin, N; Armean, IM; Kleinman, A; Marshall, JL; Minikel, EV; Goodrich, JK; Quaife, NM; Cole, JB; Wang, Q; Karczewski, KJ

bioRxiv.

Ganesh VS; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Riquin K; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Chatron N; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Yoon E; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Lamar KM; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Aziz MC; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Monin P; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; O'Leary MC; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Goodrich JK; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Garimella KV; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; England E; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Weisburd B; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Aguet F; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Bacino CA; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Murdock DR; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Dai H; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Rosenfeld JA; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Emrick LT; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Ketkar S; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Sarusi Y; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Sanlaville D; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Kayani S; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Broadbent B; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Pengam A; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Isidor B; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Bezieau S; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Cogné B; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; MacArthur DG; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Ulitsky I; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; Carvill GL; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.; O'Donnell-Luria A; 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's Hospital (V.S.G.), the Division of Genetics and Genomics, Boston Children's Hospital (V.S.G., A.O.-L.), and Harvard Medical School (V.S.G., A.O.-L.), Boston - all in Massachusetts; L'institut du Thorax (K.R., B.I., S.B., B.C.), Service de Radiopediatrie (A.P.), and Service de Génétique Médicale (B.I., S.B., B.C.), Nantes Université, Centre Hospitalier Universitaire (CHU) de Nantes, Centre National de la Recherche Scientifique (CNRS), INSERM, Nantes, and Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, CNRS, INSERM (N.C., D.S.), and Service de Génétique, Hospices Civils de Lyon (N.C., P.M., D.S.), Lyon - all in France; the Departments of Neurology (E.Y., K.-M.L., M.C.A., G.L.C.) and Pharmacology (G.L.C.), Northwestern University Feinberg School of Medicine, Chicago; the Undiagnosed Diseases Network and the Department of Molecular and Human Genetics, Baylor College of Medicine, Houston (C.A.B., D.R.M., H.D., J.A.R., L.T.E., S. Ketkar), and the Department of Pediatrics, University of Texas Southwestern Medical Center (S. Kayani), and Coalition to Cure CHD2 (B.B.), Dallas; the Departments of Immunology and Regenerative Biology and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel (Y.S., I.U.); and the Centre for Population Genomics, Garvan Institute of Medical Research and University of New South Wales Sydney, Sydney (D.G.M.), and the Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC (D.G.M.) - both in Australia.

Publisher: Massachusetts Medical Society Country of Publication: United States NLM ID: 0255562 Publication Model: Print Cited Medium: Internet ISSN: 1533-4406 (Electronic) Linking ISSN: 00284793 NLM ISO Abbreviation: N Engl J Med Subsets: MEDLINE

Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Phu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, University of New South Wales Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE

Koenig Z; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Yohannes MT; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Nkambule LL; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Zhao X; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.; Goodrich JK; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Kim HA; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Wilson MW; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Tiao G; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Hao SP; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.; Sahakian N; Broad Genomics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts, 02141, USA.; Chao KR; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Walker MA; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Data Sciences Platform, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Lyu Y; Department of Biostatistics, Harvard T.H. Chan School of Public Health, Boston, Massachusetts 02115, USA.; Rehm HL; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Neale BM; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Talkowski ME; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.; Daly MJ; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Department of Medicine, Harvard Medical School, Boston, Massachusetts 02115, USA.; Institute for Molecular Medicine Finland, 00290 Helsinki, Finland.; Brand H; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Neurology, Massachusetts General Hospital and Harvard Medical School, Boston, Massachusetts 02114, USA.; Karczewski KJ; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Atkinson EG; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.; Martin AR; Stanley Center for Psychiatric Research, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA; armartin@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.; Program in Medical and Population Genetics, The Broad Institute of MIT and Harvard, Cambridge, Massachusetts 02142, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, Massachusetts 02114, USA.

Publisher: Cold Spring Harbor Laboratory Press Country of Publication: United States NLM ID: 9518021 Publication Model: Electronic Cited Medium: Internet ISSN: 1549-5469 (Electronic) Linking ISSN: 10889051 NLM ISO Abbreviation: Genome Res Subsets: MEDLINE

Gudmundsson S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Einson J; New York Genome Center, New York, NY, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Lappalainen T; Science for Life Laboratory, Department of Gene Technology, KTH Royal Institute of Technology, Stockholm, Sweden.; New York Genome Center, New York, NY, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine & Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Chao KR; Wang L; Panchal R; Liao C; Abderrazzaq H; Ye R; Schultz P; Compitello J; Grant RH; Kosmicki JA; Weisburd B; Phu W; Wilson MW; Laricchia KM; Goodrich JK; Goldstein D; Goldstein JI; Vittal C; Poterba T; Baxter S; Watts NA; Solomonson M; Tiao G; Rehm HL; Neale BM; Talkowski ME; MacArthur DG; O'Donnell-Luria A; Karczewski KJ; Radivojac P; Daly MJ; Samocha KE

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Son R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Sveden A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wood J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; England E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cole JB; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Weisburd B; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Watts N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Caulkins L; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Dornbos P; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Koesterer R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Zappala Z; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Zhang H; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.; Maloney KA; School of Medicine, University of Maryland Baltimore, Baltimore, MD, USA.; Dahl A; Department of Neurology, UCLA, Los Angeles, CA, USA.; Aguilar-Salinas CA; Instituto Nacional de Ciencias Medicas y Nutricion, Mexico City, Mexico.; Atzmon G; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Faculty of Natural Science, University of Haifa, Haifa, Israel.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.; Barajas-Olmos F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.; Barzilai N; Department of Medicine, Albert Einstein College of Medicine, New York, NY, USA.; Department of Genetics, Albert Einstein College of Medicine, New York, NY, USA.; Blangero J; Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA.; Boerwinkle E; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.; Bonnycastle LL; Medical Genomics and Metabolic Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Bottinger E; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Bowden DW; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Department of Biochemistry, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Centeno-Cruz F; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.; Chambers JC; Department of Epidemiology and Biostatistics, Imperial College London, London, UK.; Lee Kong Chian School of Medicine, Nanyang Technological University, Singapore, Singapore.; Chami N; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; The Mindich Child Health and Development Institute, Ichan School of Medicine at Mount Sinai, New York, NY, USA.; Chan E; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Chan J; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; 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Department of Human Genetics and South Texas Diabetes and Obesity Institute, University of Texas Rio Grande Valley, Brownsville and Edinburg, TX, USA.; Dupuis J; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA.; Garay-Sevilla ME; Department of Medical Science, División of Health Science, University of Guanjuato. 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Minerva Foundation Institute for Medical Research, Helsinki, Finland.; Kooner JS; Department of Cardiology, Ealing Hospital, London North West Healthcare NHS Trust, London, UK.; MRC-PHE Centre for Environment and Health, Imperial College London, London, UK.; Imperial College Healthcare NHS Trust, Imperial College London, London, UK.; National Heart and Lung Institute, Imperial College London, London, UK.; Kuusisto J; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.; Kwak SH; Department of Internal Medicine, Seoul National University Hospital, Seoul, South Korea.; Laakso M; Institute of Clinical Medicine, Internal Medicine, University of Eastern Finland and Kuopio University Hospital, Kuopio, Finland.; Lange L; Department of Medicine, University of Colorado Denver, Anschutz Medical Campus, Aurora, CO, USA.; Lee JY; Oneomics Soonchunhyang Mirae Medical Center, Bucheon-si Gyeonggi-do, Republic of Korea.; Lee J; 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Department of Medicine, Harvard Medical School, Boston, MA, USA.; Division of General Internal Medicine, Massachusetts General Hospital, Boston, MA, USA.; Meitinger T; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; German Centre for Cardiovascular Research (DZHK), Partner Site Munich Heart Alliance, Munich, Germany.; Mendoza-Caamal E; Instituto Nacional de Medicina Genómica, Mexico City, Mexico.; Mohlke KL; Department of Genetics, University of North Carolina Chapel Hill, Chapel Hill, NC, USA.; Morris AD; Wellcome Centre for Human Genetics, Nuffield Department of Medicine, University of Oxford, Oxford, UK.; Department of Biostatistics, University of Liverpool, Liverpool, UK.; Morrison AC; Human Genetics Center, School of Public Health, The University of Texas Health Science Center at Houston, Houston, TX, USA.; Ng MCY; Center for Diabetes Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; Center for Genomics and Personalized Medicine Research, Wake Forest School of Medicine, Winston-Salem, NC, USA.; 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Division of Translational Medicine and Human Genetics, University of Pennsylvania, Philadelphia, PA, USA.; Department of Biostatistics and Epidemiology, University of Pennsylvania, Philadelphia, PA, USA.; Center for Non-Communicable Diseases, Karachi, Pakistan.; Schurmann C; The Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY, USA.; Digital Health Center, Hasso Plattner Institute, University of Potsdam, Prof.-Dr.-Helmert-Str. 2-3, Potsdam, Germany.; Hasso Plattner Institute for Digital Health at Mount Sinai, Icahn School of Medicine at Mount Sinai, One Gustave L. Levy Place, New York, NY, USA.; Sim X; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Sladek R; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Division of Endocrinology and Metabolism, Department of Medicine, McGill University, Montreal, QC, Canada.; McGill University and Génome Québec Innovation Centre, Montreal, QC, Canada.; Small KS; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.; So WY; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Spector TD; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.; Strauch K; Institute of Genetic Epidemiology, Helmholtz Zentrum Munchen, German Research Center for Environmental Health, Neuherberg, Germany.; Institute for Medical Informatics Biometry and Epidemiology, Ludwig-Maximilians University, Munich, Germany.; Strom TM; Institute of Human Genetics, Technical University of Munich, Munich, Germany.; Institute of Human Genetics, Helmholtz Zentrum München, German Research Center for Environmental Health, Neuherberg, Germany.; Tai ES; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Duke-NUS Medical School, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Tam CHT; Department of Medicine and Therapeutics, The Chinese University of Hong Kong, Hong Kong, China.; Chinese University of Hong Kong-Shanghai Jiao Tong University Joint Research Centre in Diabetes Genomics and Precision Medicine, The Chinese University of Hong Kong, Hong Kong, China.; Hong Kong Institute of Diabetes and Obesity, The Chinese University of Hong Kong, Hong Kong, China.; Teo YY; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Life Sciences Institute, National University of Singapore, Singapore, Singapore.; Department of Statistics and Applied Probability, National University of Singapore, Singapore, Singapore.; Thameem F; Department of Biochemistry, Faculty of Medicine, Health Science Center, Kuwait University, Safat, Kuwait.; Tomlinson B; Faculty of Medicine, Macau University of Science & Technology, Macau, China.; Tracy RP; Department of Pathology and Laboratory Medicine, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.; Department of Biochemistry, The Robert Larner M.D. College of Medicine, University of Vermont, Burlington, VT, USA.; Tuomi T; Department of Clinical Sciences, Diabetes and Endocrinology, Lund University Diabetes Centre, Malmö, Sweden.; Institute for Molecular Genetics Finland, University of Helsinki, Helsinki, Finland.; Folkhälsan Research Centre, Helsinki, Finland.; Department of Endocrinology, Abdominal Centre, Helsinki University Hospital, Helsinki, Finland.; Research Programs Unit, Clinical and Molecular Medicine, University of Helsinki, Helsinki, Finland.; Tuomilehto J; Public Health Promotion Unit, Finnish Institute for Health and Welfare, Helsinki, Finland.; Department of Public Health, University of Helsinki, Helsinki, Finland.; Saudi Diabetes Research Group, King Abdulaziz University, Jeddah, Saudi Arabia.; Department of International Health, National School of Public Health, Instituto de Salud Carlos III, Madrid, Spain.; Tusié-Luna T; Unidad de Biología Molecular y Medicina Genómica, Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán, Mexico City, Mexico.; Departamento de Medicina Genómica y Toxiología Ambiental, Instituto de Investigaciones Biomédicas, UNAM, Mexico City, Mexico.; van Dam RM; Department of Medicine, Yong Loo Lin School of Medicine, National University of Singapore and National University Health System, Singapore, Singapore.; Saw Swee Hock School of Public Health, National University of Singapore and National University Health System, Singapore, Singapore.; Department of Nutrition, Harvard School of Public Health, Boston, MA, USA.; Vasan RS; Boston University and National Heart Lung and Blood Institute's Framingham Heart Study, Framingham, MA, USA.; Preventive Medicine & Epidemiology, and Cardiovascular Medicine, Medicine, Boston University School of Medicine, and Epidemiology, Boston University School of Public health, Boston, MA, USA.; Wilson JG; Department of Physiology and Biophysics, University of Mississippi Medical Center, Jackson, MS, USA.; Witte DR; Department of Public Health, Aarhus University, Aarhus, Denmark.; Danish Diabetes Academy, Odense, Denmark.; Wong TY; Singapore Eye Research Institute, Singapore National Eye Centre, Singapore, Singapore.; 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Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Mercader JM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, Massachusetts, USA.; Department of Pediatrics, Harvard Medical School, Boston, MA, USA.; Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Florez JC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Department of Medicine, Harvard Medical School, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, NSW, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, VIC, Australia.; Udler MS; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. mudler@mgh.harvard.edu.; Diabetes Unit and Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. mudler@mgh.harvard.edu.; Department of Medicine, Harvard Medical School, Boston, MA, USA. mudler@mgh.harvard.edu.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Ganesh VS; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Neurology, Brigham and Women's Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.; Riquin K; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Chatron N; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France.; Lamar KM; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Aziz MC; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Monin P; Service de génétique, Hospices Civils de Lyon, Lyon, France.; O'Leary M; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Goodrich JK; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Garimella KV; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; England E; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yoon E; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Weisburd B; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Aguet F; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bacino CA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Emrick LT; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Ketkar S; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Sarusi Y; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.; Sanlaville D; Institut Neuromyogène, Laboratoire Physiopathologie et Génétique du Neurone et du Muscle, Equipe Métabolisme énergétique et développement neuronal, CNRS UMR 5310, INSERM U1217, Université Lyon 1, Lyon, France.; Service de génétique, Hospices Civils de Lyon, Lyon, France.; Kayani S; Department of Pediatrics, University of Texas Southwestern Medical Center, Dallas, TX, USA.; Broadbent B; Coalition to Cure CHD2, USA.; Isidor B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.; Pengam A; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.; Cogné B; Nantes Université, CHU de Nantes, CNRS, INSERM, L'institut du Thorax, Nantes, France.; Nantes Université, CHU de Nantes, Service de Génétique médicale, F-44000 Nantes, France.; MacArthur DG; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Ulitsky I; Departments of Biological Regulation and Molecular Neuroscience, Weizmann Institute of Science, Rehovot, Israel.; Carvill GL; Departments of Neurology, Northwestern University Feinberg School of Medicine, Chicago, IL.; Department of Pharmacology, Northwestern University Feinberg School of Medicine, Chicago, IL.; O'Donnell-Luria A; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Harvard Medical School, Boston, MA, USA.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Chen S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@broadinstitute.org.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Kanai M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Vittal C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Gauthier LD; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Tarasova Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Phu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yohannes MT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Koenig Z; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Farjoun Y; Richards Lab, Lady Davis Institute, Montreal, Quebec, Canada.; Banks E; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Donnelly S; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gabriel S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tolonen C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novod S; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bergelson L; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Roazen D; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ruano-Rubio V; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Covarrubias M; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Llanwarne C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Petrillo N; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wade G; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Jeandet T; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Munshi R; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tibbetts K; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Seed C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Martin AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE; PubMed not MEDLINE

Guo MH; Department of Neurology, Hospital of the University of the Pennsylvania, Philadelphia, PA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Groopman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Darnowsky PW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hirschhorn JN; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Departments of Genetics and Pediatrics, Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Samocha KE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. samocha@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. samocha@broadinstitute.org.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA. samocha@broadinstitute.org.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE

Chen S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. siwei@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. siwei@broadinstitute.org.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Collins RL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Medical Sciences, Harvard Medical School, Boston, MA, USA.; Kanai M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Wang Q; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan.; Alföldi J; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Vittal C; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Gauthier LD; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wilson MW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Tarasova Y; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Phu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Grant R; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Yohannes MT; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Koenig Z; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Farjoun Y; Richards Lab, Lady Davis Institute, Montreal, Quebec, Canada.; Banks E; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Donnelly S; Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gabriel S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Gupta N; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ferriera S; Broad Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tolonen C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Novod S; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Bergelson L; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Roazen D; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Ruano-Rubio V; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Covarrubias M; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Llanwarne C; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Petrillo N; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Wade G; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Jeandet T; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Munshi R; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tibbetts K; Data Science Platform, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Seed C; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Martin AR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Talkowski ME; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland (FIMM), Helsinki, Finland.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research and UNSW Sydney, Sydney, New South Wales, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA. konradk@broadinstitute.org.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA. konradk@broadinstitute.org.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 0410462 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-4687 (Electronic) Linking ISSN: 00280836 NLM ISO Abbreviation: Nature Subsets: MEDLINE

Donkervoort S; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Sabouny R; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada.; Yun P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Gauquelin L; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Chao KR; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Hu Y; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Al Khatib I; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada.; Töpf A; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Mohassel P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Cummings BB; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Kaur R; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Saade D; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Moore SA; Department of Pathology Carver College of Medicine, The University of Iowa, Iowa City, IA, USA.; Waddell LB; Kids Neuroscience Centre, Kids Research, The Children's Hospital at Westmead, Sydney, NSW 2145, Australia.; Discipline of Child and Adolescent Health, Faculty of Medicine and Health, The University of Sydney, Westmead, NSW 2145, Australia.; Farrar MA; Department of Neurology, Sydney Children's Hospital, Sydney, NSW, Australia.; UNSW Sydney, School of Women's and Children's Health, Sydney, NSW, Australia.; Goodrich JK; Center for Mendelian Genomics, Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Boston, MA, USA.; Uapinyoying P; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Research for Genetic Medicine, Children's National Medical Center, Washington, DC, USA.; Chan SHS; Department of Paediatrics and Adolescent Medicine, Queen Mary Hospital, The University of Hong Kong, Hong Kong SAR, China.; Javed A; School of Biomedical Science, The University of Hong Kong, Hong Kong SAR, China.; Leach ME; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Oregon Health and Science University, Neuromuscular Program, Doernbecher Children's Hospital, Portland, OR, USA.; Karachunski P; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.; Dalton J; Department of Neurology, University of Minnesota, Minneapolis, MN, USA.; Medne L; Division of Human Genetics, The Children's Hospital of Philadelphia, Philadelphia, USA.; Harper A; Department of Neurology, Virginia Commonwealth University, Children's Hospital of Richmond at VCU, Richmond, VA, USA.; Thompson C; Department of Pediatrics, University of California San Diego, San Diego, CA, USA.; Thiffault I; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, USA.; Specht S; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Lamont RE; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, USA.; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, USA.; University of Missouri-Kansas City School of Medicine, Kansas City, USA.; Racher H; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Bernier FP; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Mowat D; UNSW Sydney, School of Women's and Children's Health, Sydney, NSW, Australia.; Department of Medical Genetics, Sydney Children's Hospital, Sydney, NSW, Australia.; Witting N; Department of Neurology, University Hospital Rigshospitalet, Copenhagen, Denmark.; Vissing J; Department of Neurology, University Hospital Rigshospitalet, Copenhagen, Denmark.; Hanson R; University of Missouri-Kansas City School of Medicine, Kansas City, USA.; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.; Coffman KA; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.; Division of Neurology, Children's Mercy Hospital, Kansas City, USA.; Hainlen M; Department of Pediatrics, Children's Mercy Hospital, Kansas City, USA.; Division of Neurology, Children's Mercy Hospital, Kansas City, USA.; Parboosingh JS; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Carnevale A; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Yoon G; Division of Clinical and Metabolic Genetics, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Division of Neurology, Department of Paediatrics, The Hospital for Sick Children, University of Toronto, Toronto, ON, Canada.; Schnur RE; GeneDx, Gaithersburg, MD, USA.; Boycott KM; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Canada.; Care4Rare Research Consortium, Ottawa, Canada.; Mah JK; Departments of Pediatrics, Section of Neurology, University of Calgary, Calgary, AB, Canada.; Straub V; John Walton Muscular Dystrophy Research Centre, Institute of Genetic Medicine, Newcastle University, Newcastle upon Tyne, UK.; Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Foley AR; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Innes AM; Department of Medical Genetics and Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, AB, Canada.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA. Carsten.bonnemann@nih.gov.; Shutt TE; Department of Biochemistry and Molecular Biology, University of Calgary, Calgary, Canada. timothy.shutt@ucalgary.ca.; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Hotchkiss Brain Institute, University of Calgary, Calgary, Canada. timothy.shutt@ucalgary.ca.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Lu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Gauthier LD; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Data Sciences Platform, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Poterba T; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Giacopuzzi E; Human Technopole, Viale Rita Levi-Montalcini 1, 20157 Milano, Italy.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Stevens CR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; King D; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Institute for Molecular Medicine Finland, Helsinki, Finland.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA; Novo Nordisk Foundation Center for Genomic Mechanisms of Disease, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA. Electronic address: konradk@broadinstitute.org.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Guo MH; Department of Neurology, Hospital of the University of the Pennsylvania, Philadelphia, PA, USA.; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Francioli LC; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stenton SL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Watts NA; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Singer-Berk M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Groopman E; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Darnowsky PW; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Baxter S; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Neale BM; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Hirschhorn JN; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Genetics, Blavatnik Institute, Harvard Medical School, Boston, MA, USA.; Division of Endocrinology, Boston Children's Hospital, Boston, MA, USA.; Center for Basic and Translational Obesity Research, Boston Children's Hospital, Boston, MA, USA.; Rehm HL; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Daly MJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Institute for Molecular Medicine Finland, (FIMM) Helsinki, Finland.; O'Donnell-Luria A; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.; MacArthur DG; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Centre for Population Genomics, Garvan Institute of Medical Research, UNSW Sydney, Sydney, Australia.; Centre for Population Genomics, Murdoch Children's Research Institute, Melbourne, Australia.; Samocha KE; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA, USA.; Center for Genomic Medicine, Massachusetts General Hospital, Boston, MA, USA.

Country of Publication: United States NLM ID: 101680187 Publication Model: Electronic Cited Medium: Internet ISSN: 2692-8205 (Electronic) Linking ISSN: 26928205 NLM ISO Abbreviation: bioRxiv Subsets: PubMed not MEDLINE

Barrios C; Beaumont M; Pallister T; Villar J; Goodrich JK; Clark A; Pascual J; Ley RE; Spector TD; Bell JT; Menni C

PLoS One
PLoS ONE, Vol 10, Iss 8, p e0134311 (2015)

Karczewski KJ; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Solomonson M; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Chao KR; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Goodrich JK; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Tiao G; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Lu W; Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Analytic and Translational Genetics Unit, Massachusetts General Hospital, Boston, MA 02114, USA.; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Riley-Gillis BM; Genomics Research Center, AbbVie, North Chicago, IL 60064, USA.; Tsai EA; Biogen, Inc., Cambridge, MA 02142, USA.; Kim HI; Worldwide Research Development and Medical, Pfizer, Inc., Cambridge, MA 02139, USA.; Zheng X; Genomics Research Center, AbbVie, North Chicago, IL 60064, USA.; Rahimov F; Genomics Research Center, AbbVie, North Chicago, IL 60064, USA.; Esmaeeli S; Genomics Research Center, AbbVie, North Chicago, IL 60064, USA.; Grundstad AJ; Genomics Research Center, AbbVie, North Chicago, IL 60064, USA.; Reppell M; Genomics Research Center, AbbVie, North Chicago, IL 60064, USA.; Waring J; 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Publisher: Elsevier, Inc Country of Publication: United States NLM ID: 9918284260106676 Publication Model: eCollection Cited Medium: Internet ISSN: 2666-979X (Electronic) Linking ISSN: 2666979X NLM ISO Abbreviation: Cell Genom Subsets: PubMed not MEDLINE