المؤلفون: 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

مصطلحات موضوعية: DNA Replication, 0301 basic medicine, DNA Repair, Brain Somatic Mosaicism, Somatic cell, DNA Mutational Analysis, Genomics, Disease, Biology, Article, Germline, 03 medical and health sciences, Neural Stem Cells, Humans, Copy-number variation, Neurons, Genetics, Multidisciplinary, Genome, Human, Mosaicism, Mental Disorders, Brain, Phenotype, Germ Cells, 030104 developmental biology, Human genome, Nerve Net, Nervous System Diseases, Cell Division, Neurotypical, DNA Damage

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

المؤلفون: 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.

مؤلفون مشاركون: FinnGen, Million Veteran Program, Regeneron Genetics Center

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

نوع المنشور: Journal Article; Meta-Analysis

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 101714113 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2574-8300 (Electronic) Linking ISSN: 25748300 NLM ISO Abbreviation: Circ Genom Precis Med Subsets: MEDLINE

مواضيع طبية MeSH: Genome-Wide Association Study* , Tachycardia, Supraventricular*/genetics, Humans ; Genetic Predisposition to Disease ; Tachycardia, Atrioventricular Nodal Reentry/genetics ; Polymorphism, Single Nucleotide ; Connectin/genetics ; Transcriptome

المؤلفون: Berry ASF; Autism and Developmental Medicine Institute Geisinger, Lewisburg, PA (A.S.F.B., M.T.O.)., Jones LK; Department of Genomic Health, Geisinger, Danville, PA (L.K.J., S.S.G.).; Heart and Vascular Institute Geisinger, Danville, PA (L.K.J.)., Sijbrands EJ; Department of Internal Medicine, Erasmus MC, University Medical Center Rotterdam, the Netherlands (E.J.S.)., Gidding SS; Department of Genomic Health, Geisinger, Danville, PA (L.K.J., S.S.G.)., Oetjens MT; Autism and Developmental Medicine Institute Geisinger, Lewisburg, PA (A.S.F.B., M.T.O.).

المصدر: Arteriosclerosis, thrombosis, and vascular biology [Arterioscler Thromb Vasc Biol] 2023 Oct; Vol. 43 (10), pp. 2058-2067. Date of Electronic Publication: 2023 Aug 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 9505803 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1524-4636 (Electronic) Linking ISSN: 10795642 NLM ISO Abbreviation: Arterioscler Thromb Vasc Biol Subsets: MEDLINE

مواضيع طبية MeSH: Coronary Artery Disease*/epidemiology , Coronary Artery Disease*/genetics , Hypercholesterolemia*/diagnosis , Hypercholesterolemia*/epidemiology , Hypercholesterolemia*/genetics , Hyperlipoproteinemia Type II*/diagnosis , Hyperlipoproteinemia Type II*/epidemiology , Hyperlipoproteinemia Type II*/genetics, Humans ; Female ; Middle Aged ; Male ; Cholesterol, LDL ; Retrospective Studies ; Risk Factors

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101580524 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2047-9980 (Electronic) Linking ISSN: 20479980 NLM ISO Abbreviation: J Am Heart Assoc Subsets: MEDLINE

مواضيع طبية MeSH: Hyperlipoproteinemia Type II*/diagnosis , Hyperlipoproteinemia Type II*/epidemiology , Hyperlipoproteinemia Type II*/genetics , Hypercholesterolemia*, Humans ; Electronic Health Records

المؤلفون: Berry ASF; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania., Finucane BM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania., Myers SM; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania., Abril A; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania., Kirchner HL; Department of Population Health Sciences, Geisinger, Danville, Pennsylvania., Ledbetter DH; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania., Martin CL; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania., Oetjens MT; Autism and Developmental Medicine Institute, Geisinger, Lewisburg, Pennsylvania.

المصدر: JAMA [JAMA] 2023 Jan 17; Vol. 329 (3), pp. 235-243.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Medical Association Country of Publication: United States NLM ID: 7501160 Publication Model: Print Cited Medium: Internet ISSN: 1538-3598 (Electronic) Linking ISSN: 00987484 NLM ISO Abbreviation: JAMA Subsets: MEDLINE

مواضيع طبية MeSH: Aneuploidy* , Venous Thromboembolism*/epidemiology , Venous Thromboembolism*/genetics , Venous Thromboembolism*/complications , Sex Chromosome Aberrations*/statistics & numerical data, Adult ; Female ; Humans ; Male ; Middle Aged ; Incidence ; Retrospective Studies ; Risk Factors ; Sex Chromosomes/genetics ; United States/epidemiology ; United Kingdom/epidemiology ; Adolescent ; Young Adult ; Aged ; Aged, 80 and over ; Databases, Factual/statistics & numerical data

المؤلفون: 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).

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

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: American Psychiatric Association Country of Publication: United States NLM ID: 0370512 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1535-7228 (Electronic) Linking ISSN: 0002953X NLM ISO Abbreviation: Am J Psychiatry Subsets: MEDLINE

مواضيع طبية MeSH: Schizophrenia*/epidemiology , Schizophrenia*/genetics, Humans ; Penetrance ; Prevalence ; Genetic Testing ; Delivery of Health Care ; DNA Copy Number Variations/genetics

المؤلفون: Savatt JM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA; Department of Genomic Health, Geisinger, Danville, PA. Electronic address: jmsavatt@geisinger.edu., Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA., Myers SM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA., Finucane BM; Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Jan; Vol. 25 (1), pp. 161-163. Date of Electronic Publication: 2022 Nov 17.

نوع المنشور: Letter

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: PubMed not MEDLINE; MEDLINE

المؤلفون: 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.

المصدر: 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.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: Birt-Hogg-Dube Syndrome*/complications , Birt-Hogg-Dube Syndrome*/epidemiology , Birt-Hogg-Dube Syndrome*/genetics , Cysts*/complications , Cysts*/pathology , Kidney Neoplasms*/complications , Lung Diseases*/complications , Lung Diseases*/pathology , Pneumothorax*/complications , Pneumothorax*/genetics , Skin Diseases*/genetics, Proto-Oncogene Proteins/*genetics, Delivery of Health Care ; Humans ; Phenotype ; Tumor Suppressor Proteins/genetics

المؤلفون: Finucane B; Geisinger, Autism & Developmental Medicine Institute, Lewisburg, PA. Electronic address: bmfinucane@geisinger.edu., Oetjens MT; Geisinger, Autism & Developmental Medicine Institute, Lewisburg, PA., Johns A; Geisinger, Department of Population Health Sciences, Danville, PA., Myers SM; Geisinger, Autism & Developmental Medicine Institute, Lewisburg, PA., Fisher C; Geisinger, Autism & Developmental Medicine Institute, Lewisburg, PA., Habegger L; Regeneron Genetics Center, Tarrytown, NY., Maxwell EK; Regeneron Genetics Center, Tarrytown, NY., Reid JG; Regeneron Genetics Center, Tarrytown, NY., Ledbetter DH; Geisinger, Autism & Developmental Medicine Institute, Lewisburg, PA., Kirchner HL; Geisinger, Department of Population Health Sciences, Danville, PA., Martin CL; Geisinger, Autism & Developmental Medicine Institute, Lewisburg, PA.

المصدر: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Mar; Vol. 24 (3), pp. 703-711. Date of Electronic Publication: 2021 Nov 18.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural

بيانات الدورية: Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE

مواضيع طبية MeSH: DNA Copy Number Variations*/genetics , Delivery of Health Care*, Adult ; Child ; Cohort Studies ; Humans ; Patient Acceptance of Health Care ; Prevalence

المؤلفون: Jurgens SJ; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Department of Experimental Cardiology, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands., Choi SH; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Morrill VN; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Chaffin M; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Pirruccello JP; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Halford JL; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Weng LC; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Nauffal V; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Roselli C; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA., Hall AW; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Oetjens MT; Autism & Developmental Medicine Institute, Geisinger, Danville, PA, USA., Lagerman B; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA., vanMaanen DP; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA., Aragam KG; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA., Lunetta KL; NHLBI and Boston University's Framingham Heart Study, Framingham, MA, USA.; Department of Biostatistics, Boston University School of Public Health, Boston, MA, USA., Haggerty CM; Department of Translational Data Science and Informatics, Geisinger, Danville, PA, USA.; Heart Institute, Geisinger, Danville, PA, USA., Lubitz SA; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA., Ellinor PT; Cardiovascular Disease Initiative, The Broad Institute of MIT and Harvard, Cambridge, MA, USA. ellinor@mgh.harvard.edu.; Cardiovascular Research Center, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu.; Demoulas Center for Cardiac Arrhythmias, Massachusetts General Hospital, Boston, MA, USA. ellinor@mgh.harvard.edu.

مؤلفون مشاركون: Regeneron Genetics Center

المصدر: Nature genetics [Nat Genet] 2022 Mar; Vol. 54 (3), pp. 240-250. Date of Electronic Publication: 2022 Feb 17.

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

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

مواضيع طبية MeSH: Cardiovascular Diseases*/epidemiology , Cardiovascular Diseases*/genetics , Diabetes Mellitus, Type 2*/genetics, Biological Specimen Banks ; Carrier Proteins/genetics ; Genetic Predisposition to Disease ; Genetic Variation/genetics ; Humans ; United Kingdom