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pro vyhledávání: '"Murdock DR"'
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Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Hanchard, NA, Murdock, DR, Magoulas, PL, Bainbridge, M, Muzny, D, Wu, YQ, Wang, M, McGuire, AL, Lupski, JR, Gibbs, RA, Brown, CW
Publikováno v:
Clinical Genetics; May2013, Vol. 83 Issue 5, p457-461, 5p, 2 Charts, 1 Graph
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:
Zhou Z; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Hughes K; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Saif N; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, USA., Kim H; Department Kinesiology & Sport Management, Texas Tech University, Lubbock, TX, USA., Massett MP; Department Kinesiology & Sport Management, Texas Tech University, Lubbock, TX, USA., Zheng M; Department of Pediatrics, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Cecchi AC; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Guo D; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Murdock DR; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Pan P; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Clinton JS; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Wang J; Department of Pediatrics, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA., Greally JM; Department of Genetics, Albert Einstein College of Medicine, NY, USA., Milewicz DM; Division of Medical Genetics, Department of Internal Medicine, The University of Texas Health Science Center at Houston McGovern Medical School, Houston, TX, USA.
Publikováno v:
BioRxiv : the preprint server for biology [bioRxiv] 2024 Aug 16. Date of Electronic Publication: 2024 Aug 16.
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:
Ward SK; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Wadley A; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA.; University of Arkansas for Medical Sciences, Little Rock, Arkansas, USA., Tsai CA; Department of Pediatrics, Section of Genetics, University of Oklahoma Health Sciences Center, Oklahoma City, Oklahoma, USA., Benke PJ; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA., Emrick L; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Fisher K; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Houck KM; Department of Pediatrics, Section of Neurology and Developmental Neuroscience, Baylor College of Medicine (BCM), Houston, Texas, USA., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Guillen Sacoto MJ; GeneDx, Gaithersburg, Maryland, USA., Craigen W; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Glaser K; Joe DiMaggio Children's Hospital, Hollywood, Florida, USA.; Invitae, San Francisco, California, USA., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; The University of Texas Health Science Center at Houston, Houston, Texas, USA., Rohena L; Department of Pediatrics, Division of Medical Genetics, San Antonio Military Medical Center, San Antonio, Texas, USA.; Department of Pediatrics, Long School of Medicine, The University of Texas Health Science Center at San Antonio, San Antonio, Texas, USA., Diderich KEM; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Bruggenwirth HT; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, the Netherlands., Lee B; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Bacino C; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.; Texas Children's Hospital, Houston, Texas, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, USA.
Publikováno v:
American journal of medical genetics. Part A [Am J Med Genet A] 2024 Jan; Vol. 194 (1), pp. 17-30. Date of Electronic Publication: 2023 Sep 25.
Autor:
Marom R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Zhang B; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Washington ME; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Song IW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Burrage LC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rossi VC; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Berrier AS; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Lindsey A; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lesinski J; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Nonet ML; Department of Neuroscience, Washington University School of Medicine, St Louis, Missouri, United States of America., Chen J; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Baldridge D; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Silverman GA; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Sutton VR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Tran AA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Hicks MJ; Texas Children's Hospital, Houston, Texas, United States of America.; Department of Pathology & Immunology, Baylor College of Medicine, Houston, Texas, United States of America., Murdock DR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Dai H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Weis M; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Jhangiani SN; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Muzny DM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Gibbs RA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America., Caswell R; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Pottinger C; All Wales Medical Genomics Service, Wrexham Maelor Hospital, Wrexham, UK., Cilliers D; Oxford Centre for Genomic Medicine, Oxford University Hospitals NHS Foundation Trust, Oxford, United Kingdom., Stals K; Exeter Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, United Kingdom., Eyre D; Department of Orthopaedics and Sports Medicine, University of Washington, Seattle, Washington, United States of America., Krakow D; Human Genetics, Obstetrics & Gynecology, Orthopedic Surgery, University of California, Los Angeles, California, United States of America., Schedl T; Department of Genetics, Washington University School of Medicine, St Louis, Missouri, United States of America., Pak SC; Department of Pediatrics, Washington University School of Medicine, St Louis, Missouri, United States of America., Lee BH; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, United States of America.; Texas Children's Hospital, Houston, Texas, United States of America.
Publikováno v:
PLoS genetics [PLoS Genet] 2023 Nov 07; Vol. 19 (11), pp. e1011005. Date of Electronic Publication: 2023 Nov 07 (Print Publication: 2023).
Autor:
Baghdassarian H; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Blackstone SA; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Clay OS; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Philips R; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Matthiasardottir B; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Nehrebecky M; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Hua VK; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., McVicar R; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Liu Y; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Tucker SM; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Randazzo D; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Deuitch N; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Rosenzweig S; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Mark A; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Sasik R; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Fisch KM; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Pimpale Chavan P; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Eren E; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Watts NR; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Ma CA; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Gadina M; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Schwartz DM; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Sanyal A; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Werner G; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Murdock DR; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Horita N; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Chowdhury S; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Dimmock D; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Jepsen K; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Remmers EF; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Goldbach-Mansky R; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Gahl WA; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., O'Shea JJ; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Milner JD; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Lewis NE; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Chang J; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Kastner DL; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Torok K; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Oda H; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Putnam CD; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.)., Broderick L; From the Bioinformatics and Systems Biology Program (H.B.), the Department of Pediatrics (H.B., O.S.C., V.K.H., N.E.L.), the Center for Computational Biology and Bioinformatics, Department of Medicine (A.M., R.S., K.M.F.), the Institute for Genomic Medicine (K.J.), the Department of Bioengineering (N.E.L.), the Division of Allergy, Immunology, and Rheumatology, Department of Pediatrics (J.C., L.B.), and the Department of Medicine (C.D.P.), University of California, San Diego, Sanford Burnham Prebys Medical Discovery Institute (R.M., Y.L.), and the San Diego Branch, Ludwig Institute for Cancer Research (C.D.P.), La Jolla, and the Department of Pathology (S.M.T.), Rady Children's Institute for Genomic Medicine (S.C., D.D.), and Rady Children's Hospital Foundation (J.C., L.B.), Rady Children's Hospital, San Diego - all in California; the Inflammatory Disease Section (S.A.B., B.M., M.N., S.R., P.P.C., N.H., E.F.R., D.L.K., H.O.), the Oncogenesis and Development Section (N.D.), and the Undiagnosed Diseases Program, Medical Genetics Branch (D.R.M., W.A.G.), National Human Genome Research Institute, the Molecular Immunology and Inflammation Branch (R.P., J.J.O.), the Light Imaging Section (D.R.) and the Translational Immunology Section (M.G.), Office of Science and Technology, and the Protein Expression Laboratory (E.E., N.R.W.), National Institute of Arthritis and Musculoskeletal and Skin Diseases, and the Genetics and Pathogenesis of Allergy Section, Laboratory of Allergic Diseases (C.A.M.), and the Translational Autoinflammatory Disease Section (R.G.-M.), National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, and the Department of Cell Biology and Molecular Genetics, University of Maryland, College Park (B.M.) - all in Maryland; Sanford School of Medicine, University of South Dakota, Sioux Falls (S.A.B.); the Division of Rheumatology and Clinical Immunology, University of Pittsburgh (D.M.S.), University of Pittsburgh Medical Center, Children's Hospital of Pittsburgh (A.S., G.W., K.T.), and the University of Pittsburgh Scleroderma Center (A.S., G.W., K.T.) - all in Pittsburgh; the Division of Pediatric Allergy, Immunology, and Rheumatology, Columbia University, New York (J.D.M.); and Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases and the Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany (H.O.).
Publikováno v:
The New England journal of medicine [N Engl J Med] 2023 Jun 15; Vol. 388 (24), pp. 2241-2252. Date of Electronic Publication: 2023 May 31.
Autor:
Guo DC; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Duan X; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Mimnagh K; Department of Internal Medicine, WVU School of Medicine-Charleston Division (Retired), Morgantown, West Virginia, USA., Cecchi AC; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Marin IC; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Yu Y; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Velasco WV; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Lee K; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Zhu X; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Murdock DR; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA., Leal SM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA., Wheeler MM; Genome Sciences, University of Washington, Seattle, Washington, USA., Smith J; Genome Sciences, University of Washington, Seattle, Washington, USA., Bamshad MJ; Genome Sciences, University of Washington, Seattle, Washington, USA., Milewicz DM; Department of Internal Medicine, University of Texas Health Science Center at Houston (UTHealth), Houston, Texas, USA.
Publikováno v:
Clinical genetics [Clin Genet] 2023 Jun; Vol. 103 (6), pp. 704-708. Date of Electronic Publication: 2023 Mar 07.