Intersection of diverse neuronal genomes and neuropsychiatric disease: The Brain Somatic Mosaicism Network

Autor: Mcconnell, Mj, Moran, Jv, Abyzov, A, Akbarian, S, Bae, T, Cortes-Ciriano, I, Erwin, Ja, Fasching, L, Flasch, Da, Freed, D, Ganz, J, Jaffe, Ae, Kwan, Ky, Kwon, M, Lodato, Ma, Mills, Re, Paquola, Acm, Rodin, Re, Rosenbluh, C, Sestan, N, Sherman, Ma, Shin, Jh, Song, S, Straub, Re, Thorpe, J, Weinberger, Dr, Urban, Ae, Zhou, B, Gage, Fh, Lehner, T, Senthil, G, Walsh, Ca, Chess, A, Courchesne, E, Gleeson, Jg, Kidd, Jm, Park, Pj, Pevsner, J, Vaccarino, Fm, Barton, Ar, Bekiranov, S, Bohrson, Cl, Burbulis, Ie, Chronister, W, Coppola, G, Daily, K, D'Gama, Am, Emery, Sb, Frisbie, Tj, Gao, T, Gulyás-Kovács, A, Haakenson, M, Keil, Jm, Kopera, Hc, Lam, Mm, Lee, Ea, Marques-Bonet, T, Mathern, Gw, Moldovan, Jb, Oetjens, Mt, Omberg, L, Peters, Ma, Pochareddy, S, Pramparo, T, Ratan, A, Sanavia, T, Shi, L, Skarica, M, Wang, J, Wang, M, Wang, Y, Wierman, M, Wolpert, M, Woodworth, M, Zhao, X, Zhou, W

BACKGROUND Elucidating the genetic architecture of neuropsychiatric disorders remains a major scientific and medical challenge. Emerging genomic technologies now permit the analysis of somatic mosaicism in human tissues. The measured frequencies of s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8dde4d1a89eae6cc76040638118b15b5
http://hdl.handle.net/2318/1731623

Meta-Analysis of Genome-Wide Association Studies Reveals Genetic Mechanisms of Supraventricular Arrhythmias.

Autor: Weng LC; Cardiovascular Research Center (L.-C.W.), The Broad Institute of MIT and Harvard, Cambridge.; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; VA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA., Khurshid S; Demoulas Center for Cardiac Arrhythmias (S. Khurshid, P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge., Hall AW; Gene Regulation Observatory (A.W.H.), The Broad Institute of MIT and Harvard, Cambridge., Nauffal V; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; VA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA., Morrill VN; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge., Sun YV; Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA (Y.V.S.).; VA Atlanta Healthcare System, Decatur, GA (Y.V.S., P.W.F.W.)., Rämö JT; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Finland (J.T.R., A.P.)., Beer D; Heart Institute (D.B., C.M.H.), Geisinger, Danville, PA., Lee S; Icahn School of Medicine at Mount Sinai, New York, NY (S.L., G.N.)., Nadkarni G; Icahn School of Medicine at Mount Sinai, New York, NY (S.L., G.N.)., Johnson R; Victor Chang Cardiac Research Institute (R.J., R.S., D.F.), Darlinghurst, NSW.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Kensington, NSW, Australia (R.J., R.S., B.W., D.F.)., Andreasen L; Department of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.).; Department of Biomedical Sciences (L.A., M.S.O.), University of Copenhagen, Denmark., Clayton A; Intermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.)., Pullinger CR; Cardiovascular Research Institute and Department of Physiological Nursing (C.R.P.), University of California, San Francisco., Yoneda ZT; Department of Medicine, Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN (Z.T.Y., M.B.S.)., Friedman DJ; Division of Cardiology, Department of Medicine (D.J.F., N.A.N., S.H.S.), Duke University School of Medicine, Durham, NC., Hyman MC; Division of Cardiac Electrophysiology, Hospital of the University of Pennsylvania, Philadelphia (M.C.H.)., Judy RL; Department of Surgery (R.L.J.), University of Pennsylvania, Philadelphia., Skanes AC; Division of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.)., Orland KM; Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, WI (K.M.O., L.L.E.)., Jordà P; Montreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.)., Treu TM; VA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA., Oetjens MT; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA (M.T.O., R.K.L.)., Subbiah R; Victor Chang Cardiac Research Institute (R.J., R.S., D.F.), Darlinghurst, NSW.; St Vincent's Hospital (R.S., B.W., D.F.), Darlinghurst, NSW.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Kensington, NSW, Australia (R.J., R.S., B.W., D.F.)., Hartmann JP; Department of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.)., May HT; Intermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.)., Kane JP; Cardiovascular Research Institute (J.P.K.), University of California, San Francisco.; Department of Medicine, Department of Biochemistry and Biophysics (J.P.K.), University of California, San Francisco., Issa TZ; Feinberg School of Medicine, Northwestern University, Chicago, IL (T.Z.I.)., Nafissi NA; Division of Cardiology, Department of Medicine (D.J.F., N.A.N., S.H.S.), Duke University School of Medicine, Durham, NC., Leong-Sit P; Division of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.)., Dubé MP; Montreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.).; Beaulieu-Saucier Pharmacogenomics Center, Montreal, QC, Canada (M.-P.D.)., Roselli C; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; Department of Cardiology, University of Groningen, University Medical Center Groningen, the Netherlands (C.R.)., Choi SH; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge., Tardif JC; Montreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.)., Khan HR; Division of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.)., Knight S; Intermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.).; Department of Medicine, University of Utah, Salt Lake City (S. Knight)., Svendsen JH; Department of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.).; Department of Clinical Medicine (J.H.S.), University of Copenhagen, Denmark., Walker B; St Vincent's Hospital (R.S., B.W., D.F.), Darlinghurst, NSW.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Kensington, NSW, Australia (R.J., R.S., B.W., D.F.)., Karlsson Linnér R; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, PA (M.T.O., R.K.L.).; Department of Economics, Leiden Law School, Leiden University, the Netherlands (R.K.L.)., Gaziano JM; VA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA.; Harvard Medical School, Boston, MA (J.M.G.)., Tadros R; Montreal Heart Institute Research Center and Faculty of Medicine, Université de Montréal, QC, Canada (P.J., M.-P.D., J.-C.T., R.T.)., Fatkin D; Victor Chang Cardiac Research Institute (R.J., R.S., D.F.), Darlinghurst, NSW.; St Vincent's Hospital (R.S., B.W., D.F.), Darlinghurst, NSW.; School of Clinical Medicine, Faculty of Medicine and Health, UNSW Sydney, Kensington, NSW, Australia (R.J., R.S., B.W., D.F.)., Rader DJ; Division of Cardiovascular Medicine, Department of Medicine (D.J.R.), University of Pennsylvania, Philadelphia., Shah SH; Division of Cardiology, Department of Medicine (D.J.F., N.A.N., S.H.S.), Duke University School of Medicine, Durham, NC.; Duke Molecular Physiology Institute (S.H.S.), Duke University School of Medicine, Durham, NC., Roden DM; Vanderbilt University Medical Center, Nashville, TN (D.M.R.)., Marcus GM; Division of Cardiology (G.M.M.), University of California, San Francisco., Loos RJF; Charles Bronfman Institute for Personalized Medicine, Icahn School of Medicine at Mount Sinai, New York, NY (R.J.F.L.)., Damrauer SM; Department of Surgery and Department of Genetics, Perelman School of Medicine (S.M.D.), University of Pennsylvania, Philadelphia.; Corporal Michael J. Crescenz VA Medical Center, Philadelphia, PA (S.M.D.)., Haggerty CM; Heart Institute (D.B., C.M.H.), Geisinger, Danville, PA.; Department of Translational Data Science and Informatics (C.M.H.), Geisinger, Danville, PA., Cho K; VA Boston Healthcare System (L.-C.W., V.N., T.M.T., J.M.G., K.C.), Brigham and Women's Hospital, Boston, MA., Palotie A; Analytic and Translational Genetics Unit, Department of Medicine, Department of Neurology, Department of Psychiatry (A.P.), The Broad Institute of MIT and Harvard, Cambridge.; The Stanley Center for Psychiatric Research & Program in Medical & Population Genetics (A.P.), The Broad Institute of MIT and Harvard, Cambridge.; Institute for Molecular Medicine Finland, Helsinki Institute of Life Science, University of Helsinki, Finland (J.T.R., A.P.)., Olesen MS; Department of Cardiology, Laboratory for Molecular Cardiology, Copenhagen University Hospital, Rigshospitalet, Denmark (L.A., J.P.H., J.H.S., M.S.O.).; Department of Biomedical Sciences (L.A., M.S.O.), University of Copenhagen, Denmark., Eckhardt LL; Division of Cardiovascular Medicine, Department of Medicine, University of Wisconsin-Madison, WI (K.M.O., L.L.E.)., Roberts JD; Division of Cardiology, Department of Medicine, Section of Cardiac Electrophysiology, Western University, London, ON, Canada (A.C.S., P.L.-S., H.R.K., J.D.R.)., Cutler MJ; Intermountain Heart Institute, Intermountain Medical Center, Murray, UT (A.C., H.T.M., S. Knight, M.J.C.)., Shoemaker MB; Department of Medicine, Division of Cardiovascular Medicine, Vanderbilt University Medical Center, Nashville, TN (Z.T.Y., M.B.S.)., Wilson PWF; Department of Medicine, Emory University School of Medicine, Atlanta, GA (P.W.F.W.)., Ellinor PT; Demoulas Center for Cardiac Arrhythmias (S. Khurshid, P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; VA Atlanta Healthcare System, Decatur, GA (Y.V.S., P.W.F.W.)., Lubitz SA; Demoulas Center for Cardiac Arrhythmias (S. Khurshid, P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.; Massachusetts General Hospital, Boston. Cardiovascular Disease Initiative (L.-C.W., S. Khurshid, V.N., V.N.M., J.T.R., C.R., S.H.C., P.T.E., S.A.L.), The Broad Institute of MIT and Harvard, Cambridge.

Publikováno v: Circulation. Genomic and precision medicine [Circ Genom Precis Med] 2024 Jun; Vol. 17 (3), pp. e004320. Date of Electronic Publication: 2024 May 28.

Yield of Familial Hypercholesterolemia Genetic and Phenotypic Diagnoses After Electronic Health Record and Genomic Data Screening.

Autor: Gidding SS; Department of Genomic Health Geisinger Danville PA USA., Kirchner HL; Department of Population Health Sciences Geisinger Danville PA USA., Brangan A; Department of Genomic Health Geisinger Danville PA USA., Howard W; Atomo, Inc. Austin TX USA., Kelly MA; Department of Genomic Health Geisinger Danville PA USA., Myers KD; Atomo, Inc. Austin TX USA.; Family Heart Foundation Pasadena CA USA., Morgan KM; Department of Genomic Health Geisinger Danville PA USA., Oetjens MT; Autism and Developmental Institute Geisinger Danville PA USA., Shuey TC; Department of Internal Medicine Geisinger Danville PA USA., Staszak D; Atomo, Inc. Austin TX USA., Strande NT; Department of Genomic Health Geisinger Danville PA USA., Walters NL; Department of Genomic Health Geisinger Danville PA USA., Yu KD; Department of Genomic Health Geisinger Danville PA USA., Wilemon KA; Family Heart Foundation Pasadena CA USA., Williams MS; Department of Genomic Health Geisinger Danville PA USA., Sturm AC; Department of Genomic Health Geisinger Danville PA USA.; 23andMe Sunnyvale CA USA., Jones LK; Department of Genomic Health Geisinger Danville PA USA.; Heart and Vascular Institute Geisinger Danville PA USA.

Publikováno v: Journal of the American Heart Association [J Am Heart Assoc] 2023 Jul 04; Vol. 12 (13), pp. e030073. Date of Electronic Publication: 2023 Jun 29.

Prevalence and Penetrance of Rare Pathogenic Variants in Neurodevelopmental Psychiatric Genes in a Health Care System Population.

Autor: Shimelis H; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Oetjens MT; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Walsh LK; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Wain KE; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Znidarsic M; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Myers SM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Finucane BM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Ledbetter DH; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors)., Martin CL; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pa. (all authors).

Publikováno v: The American journal of psychiatry [Am J Psychiatry] 2023 Jan 01; Vol. 180 (1), pp. 65-72. Date of Electronic Publication: 2022 Dec 07.

Frequency of truncating FLCN variants and Birt-Hogg-Dubé-associated phenotypes in a health care system population.

Autor: Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA; Genomic Medicine Institute, Geisinger, Danville, PA. Electronic address: jmsavatt@geisinger.edu., Shimelis H; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA., Moreno-De-Luca A; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA; Genomic Medicine Institute, Geisinger, Danville, PA; Department of Radiology, Geisinger, Danville, PA., Strande NT; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA; Genomic Medicine Institute, Geisinger, Danville, PA., Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA., Ledbetter DH; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA; Genomic Medicine Institute, Geisinger, Danville, PA., Martin CL; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA; Genomic Medicine Institute, Geisinger, Danville, PA., Myers SM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA., Finucane BM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA.

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Sep; Vol. 24 (9), pp. 1857-1866. Date of Electronic Publication: 2022 May 31.