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pro vyhledávání: '"Goodrich, JK"'
Autor:
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
Human genetic variants predicted to cause loss-of-function of protein-coding genes (pLoF variants) provide natural in vivo models of human gene inactivation, and can be valuable indicators of gene function and the potential toxicity of therapeutic in
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od______1032::4e37a64e74f116dc45d95c97484b4984
http://hdl.handle.net/10044/1/79583
http://hdl.handle.net/10044/1/79583
Akademický článek
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Publikováno v:
Southern medical journal. 67(1)
Akademický článek
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K zobrazení výsledku je třeba se přihlásit.
Autor:
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.
Publikováno v:
The New England journal of medicine [N Engl J Med] 2024 Oct 24; Vol. 391 (16), pp. 1511-1518.
Autor:
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.
Publikováno v:
Genome research [Genome Res] 2024 Jun 25; Vol. 34 (5), pp. 796-809. Date of Electronic Publication: 2024 Jun 25.
Autor:
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.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Jun 13. Date of Electronic Publication: 2024 Jun 13.
Autor:
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
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 May 03. Date of Electronic Publication: 2024 May 03.
Autor:
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.
Publikováno v:
MedRxiv : the preprint server for health sciences [medRxiv] 2024 Feb 07. Date of Electronic Publication: 2024 Feb 07.
Autor:
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; 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Publikováno v:
Nature [Nature] 2024 Feb; Vol. 626 (7997), pp. E1.