共 50 条
- [11] Early onset combined immunodeficiency and autoimmunity in patients with loss-of-function mutation in LATJOURNAL OF EXPERIMENTAL MEDICINE, 2016, 213 (07): : 1185 - 1199Keller, Baerbel论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, CCI, D-79106 Freiburg, Germany Univ Freiburg, D-79106 Freiburg, Germany Univ Med Ctr, CCI, D-79106 Freiburg, GermanyZaidman, Irina论文数: 0 引用数: 0 h-index: 0机构: Ruth Rappaport Childrens Hosp, Dept Pediat Hematol Oncol, Rambam Hlth Care Campus, IL-3109601 Haifa, Israel Univ Med Ctr, CCI, D-79106 Freiburg, GermanyYousefi, O. Sascha论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, CCI, D-79106 Freiburg, Germany Univ Freiburg, D-79106 Freiburg, Germany Univ Freiburg, Dept Mol Immunol, BIOSS Ctr Biol Signalling Studies, Fac Biol, D-79104 Freiburg, Germany Univ Freiburg, Spemann Grad Sch Biol & Med SGBM, D-79104 Freiburg, Germany Univ Med Ctr, CCI, D-79106 Freiburg, GermanyHershkovitz, Dov论文数: 0 引用数: 0 h-index: 0机构: Rambam Hlth Care Campus, Dept Pathol, IL-3109601 Haifa, Israel Univ Med Ctr, CCI, D-79106 Freiburg, GermanyStein, Jerry论文数: 0 引用数: 0 h-index: 0机构: Schneider Childrens Med Ctr Israel, Dept Pediat Hematol Oncol, IL-49202 Petah Tiqwa, Israel Schneider Childrens Med Ctr Israel, Bone Marrow Transplantat Unit, IL-49202 Petah Tiqwa, Israel Univ Med Ctr, CCI, D-79106 Freiburg, GermanyUnger, Susanne论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, CCI, D-79106 Freiburg, Germany Univ Freiburg, D-79106 Freiburg, Germany Univ Med Ctr, CCI, D-79106 Freiburg, GermanySchachtrup, Kristina论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, CCI, D-79106 Freiburg, Germany Univ Freiburg, D-79106 Freiburg, Germany Univ Med Ctr, CCI, D-79106 Freiburg, GermanySigvardsson, Mikael论文数: 0 引用数: 0 h-index: 0机构: Linkoping Univ, Fac Hlth Sci, Expt Hematopoiesis Unit, Dept Clin & Expt Med, S-58185 Linkoping, Sweden Univ Med Ctr, CCI, D-79106 Freiburg, GermanyKuperman, Amir A.论文数: 0 引用数: 0 h-index: 0机构: Galilee Med Ctr, Blood Coagulat Serv, IL-22100 Nahariyya, Israel Galilee Med Ctr, Pediat Hematol Clin, IL-22100 Nahariyya, Israel Bar Ilan Univ, Fac Med, IL-5290002 Safed, Israel Univ Med Ctr, CCI, D-79106 Freiburg, GermanyShaag, Avraham论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Mon & Jacques Roboh Dept Genet Res, Hadassah Med Ctr, IL-91120 Jerusalem, Israel Univ Med Ctr, CCI, D-79106 Freiburg, GermanySchamel, Wolfgang W.论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, CCI, D-79106 Freiburg, Germany Univ Freiburg, D-79106 Freiburg, Germany Univ Freiburg, Dept Mol Immunol, BIOSS Ctr Biol Signalling Studies, Fac Biol, D-79104 Freiburg, Germany Univ Med Ctr, CCI, D-79106 Freiburg, GermanyElpeleg, Orly论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Mon & Jacques Roboh Dept Genet Res, Hadassah Med Ctr, IL-91120 Jerusalem, Israel Univ Med Ctr, CCI, D-79106 Freiburg, GermanyWarnatz, Klaus论文数: 0 引用数: 0 h-index: 0机构: Univ Med Ctr, CCI, D-79106 Freiburg, Germany Univ Freiburg, D-79106 Freiburg, Germany Univ Med Ctr, CCI, D-79106 Freiburg, GermanyStepensky, Polina论文数: 0 引用数: 0 h-index: 0机构: Hebrew Univ Jerusalem, Mon & Jacques Roboh Dept Genet Res, Hadassah Med Ctr, IL-91120 Jerusalem, Israel Hebrew Univ Jerusalem, Hadassah Med Ctr, Dept Pediat Hematol Oncol & Bone Marrow Transplan, IL-91120 Jerusalem, Israel Univ Med Ctr, CCI, D-79106 Freiburg, Germany
- [12] Identification and characterization of a loss-of-function human MPYS variantGenes & Immunity, 2011, 12 : 263 - 269L Jin论文数: 0 引用数: 0 h-index: 0机构: University of Colorado Denver School of Medicine and National Jewish Health,Integrated Department of ImmunologyL-g Xu论文数: 0 引用数: 0 h-index: 0机构: University of Colorado Denver School of Medicine and National Jewish Health,Integrated Department of ImmunologyI V Yang论文数: 0 引用数: 0 h-index: 0机构: University of Colorado Denver School of Medicine and National Jewish Health,Integrated Department of ImmunologyE J Davidson论文数: 0 引用数: 0 h-index: 0机构: University of Colorado Denver School of Medicine and National Jewish Health,Integrated Department of ImmunologyD A Schwartz论文数: 0 引用数: 0 h-index: 0机构: University of Colorado Denver School of Medicine and National Jewish Health,Integrated Department of ImmunologyM M Wurfel论文数: 0 引用数: 0 h-index: 0机构: University of Colorado Denver School of Medicine and National Jewish Health,Integrated Department of ImmunologyJ C Cambier论文数: 0 引用数: 0 h-index: 0机构: University of Colorado Denver School of Medicine and National Jewish Health,Integrated Department of Immunology
- [13] Identification and characterization of a loss-of-function human MPYS variantGENES AND IMMUNITY, 2011, 12 (04) : 263 - 269Jin, L.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USA Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USAXu, L-G论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USA Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USAYang, I. V.论文数: 0 引用数: 0 h-index: 0机构: Natl Jewish Hlth, Dept Med, Denver, CO USA Natl Jewish Hlth, Ctr Genes Environm & Hlth, Denver, CO USA Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USADavidson, E. J.论文数: 0 引用数: 0 h-index: 0机构: Natl Jewish Hlth, Dept Med, Denver, CO USA Natl Jewish Hlth, Ctr Genes Environm & Hlth, Denver, CO USA Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USASchwartz, D. A.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USA Natl Jewish Hlth, Dept Med, Denver, CO USA Natl Jewish Hlth, Ctr Genes Environm & Hlth, Denver, CO USA Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USAWurfel, M. M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Div Pulm & Crit Care Med, Seattle, WA 98195 USA Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USACambier, J. C.论文数: 0 引用数: 0 h-index: 0机构: Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USA Univ Colorado Denver, Sch Med, Integrated Dept Immunol, Natl Jewish Hlth, Denver, CO 80206 USA
- [14] Association Between Titin Loss-of-Function Variants and Early-Onset Atrial FibrillationJAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION, 2018, 320 (22): : 2354 - 2364Choi, Seung Hoan论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAWeng, Lu-Chen论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USARoselli, Carolina论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USALin, Honghuang论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Framingham, MA USA Boston Univ, Framingham Heart Study, Framingham, MA USA Boston Univ, Sch Med, Sect Computat Biomed, Dept Med, Boston, MA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAHaggerty, Christopher M.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Imaging Sci & Innovat, Danville, PA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAShoemaker, M. Benjamin论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USABarnard, John论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Dept Quantitat Hlth Sci, Cleveland, OH 44106 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAArking, Dan E.论文数: 0 引用数: 0 h-index: 0机构: Johns Hopkins Univ, Sch Med, McKusick Nathans Inst Genet Med, Baltimore, MD 21218 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAChasman, Daniel I.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Brigham & Womens Hosp, Div Prevent Med, 75 Francis St, Boston, MA 02115 USA Brigham & Womens Hosp, Div Genet, 75 Francis St, Boston, MA 02115 USA Harvard Med Sch, Boston, MA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAAlbert, Christine M.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Boston, MA USA Brigham & Womens Hosp, Div Prevent & Cardiovasc Med, 75 Francis St, Boston, MA 02115 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAChaffin, Mark论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USATucker, Nathan R.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USASmith, Jonathan D.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Dept Cellular & Mol Med, Cleveland, OH 44106 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAGupta, Namrata论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAGabriel, Stacey论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAMargolin, Lauren论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAShea, Marisa A.论文数: 0 引用数: 0 h-index: 0机构: Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAShaffer, Christian M.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAYoneda, Zachary T.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USABoerwinkle, Eric论文数: 0 引用数: 0 h-index: 0机构: Univ Texas Hlth Sci Ctr Houston, Sch Publ Hlth, Human Genet Ctr, Dept Epidemiol Human Genet & Environm Sci, Houston, TX 77030 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USASmith, Nicholas L.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Epidemiol & Cardiovasc, Hlth Res Unit, Seattle, WA 98195 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USASilverman, Edwin K.论文数: 0 引用数: 0 h-index: 0机构: Harvard Med Sch, Brigham & Womens Hosp, Channing Div Network Med, Boston, MA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USARedline, Susan论文数: 0 引用数: 0 h-index: 0机构: Brigham & Womens Hosp, Dept Med, Div Sleep & Circadian Disorders, 75 Francis St, Boston, MA 02115 USA Brigham & Womens Hosp, Dept Neurol, 75 Francis St, Boston, MA 02115 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAVasan, Ramachandran S.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Framingham, MA USA Boston Univ, Framingham Heart Study, Framingham, MA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USABurchard, Esteban G.论文数: 0 引用数: 0 h-index: 0机构: Univ Calif San Francisco, Sch Pharm, Dept Bioengn, San Francisco, CA 94143 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAGogarten, Stephanie M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Biostat, Seattle, WA 98195 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USALaurie, Cecelia论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Biostat, Seattle, WA 98195 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USABlackwell, Thomas W.论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Publ Hlth, Ctr Stat Genet, Dept Biostat, Ann Arbor, MI 48109 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAAbecasis, Goncalo论文数: 0 引用数: 0 h-index: 0机构: Univ Michigan, Sch Publ Hlth, Ctr Stat Genet, Dept Biostat, Ann Arbor, MI 48109 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USACarey, David J.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Mol & Funct Genom, Danville, PA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAFornwalt, Brandon K.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Imaging Sci & Innovat, Danville, PA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USASmelser, Diane T.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Dept Mol & Funct Genom, Danville, PA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USABaras, Aris论文数: 0 引用数: 0 h-index: 0机构: Regeneron Genet Ctr, Tarrytown, NY USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USADewey, Frederick E.论文数: 0 引用数: 0 h-index: 0机构: Regeneron Genet Ctr, Tarrytown, NY USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAJaquish, Cashell E.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Div Cardiovasc Sci, NIH, Bldg 10, Bethesda, MD 20892 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAPapanicolaou, George J.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Div Cardiovasc Sci, NIH, Bldg 10, Bethesda, MD 20892 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USASotoodehnia, Nona论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAVan Wagoner, David R.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Dept Mol Cardiol, Cleveland, OH 44106 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAPsaty, Bruce M.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Epidemiol & Cardiovasc, Hlth Res Unit, Seattle, WA 98195 USA Univ Washington, Dept Med, Cardiovasc Hlth Res Unit, Seattle, WA USA Kaiser Permanente Washington Hlth Res Inst, Seattle, WA USA Univ Washington, Dept Hlth Serv, Seattle, WA 98195 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAKathiresan, Sekar论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USADarbar, Dawood论文数: 0 引用数: 0 h-index: 0机构: Univ Illinois, Dept Med, Div Cardiol, Chicago, IL USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAAlonso, Alvaro论文数: 0 引用数: 0 h-index: 0机构: Emory Univ, Dept Epidemiol, Rollins Sch Publ Hlth, Atlanta, GA 30322 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAHeckbert, Susan R.论文数: 0 引用数: 0 h-index: 0机构: Univ Washington, Dept Epidemiol & Cardiovasc, Hlth Res Unit, Seattle, WA 98195 USA Kaiser Permanente Washington Hlth Res Inst, Seattle, WA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAChung, Mina K.论文数: 0 引用数: 0 h-index: 0机构: Cleveland Clin, Dept Cardiovasc Med, Cleveland, OH 44106 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USARoden, Dan M.论文数: 0 引用数: 0 h-index: 0机构: Vanderbilt Univ, Med Ctr, Dept Med, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Pharmacol, Nashville, TN USA Vanderbilt Univ, Med Ctr, Dept Biomed Informat, Nashville, TN USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USABenjamin, Emelia J.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Framingham, MA USA Boston Univ, Framingham Heart Study, Framingham, MA USA Boston Univ, Sch Med, Dept Med, Boston, MA 02118 USA Boston Univ, Sch Publ Hlth, Dept Epidemiol, Boston, MA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAMurray, Michael F.论文数: 0 引用数: 0 h-index: 0机构: Geisinger, Genom Med Inst, Danville, PA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USALunetta, Kathryn L.论文数: 0 引用数: 0 h-index: 0机构: NHLBI, Framingham, MA USA Boston Univ, Framingham Heart Study, Framingham, MA USA Boston Univ, Sch Publ Hlth, Dept Biostat, Boston, MA USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USALubitz, Steven A.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Massachusetts Gen Hosp, Cardiac Arrhythmia Serv, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USAEllinor, Patrick T.论文数: 0 引用数: 0 h-index: 0机构: Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA Massachusetts Gen Hosp, Cardiovasc Res Ctr, Boston, MA 02114 USA Massachusetts Gen Hosp, Cardiac Arrhythmia Serv, Boston, MA 02114 USA Broad Inst MIT & Harvard, Program Med & Populat Genet, Cambridge, MA 02142 USA
- [15] Loss-of-Function Variants in Cytoskeletal Genes Are Associated with Early-Onset Atrial FibrillationJOURNAL OF CLINICAL MEDICINE, 2020, 9 (02)Vad, Oliver Bundgaard论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, Denmark Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkPaludan-Mueller, Christian论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, Denmark Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkAhlberg, Gustav论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, Denmark Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkKalsto, Silje Madeleine论文数: 0 引用数: 0 h-index: 0机构: Vestre Viken Hosp Trust, Baerum Hosp, Dept Med Res, N-3004 Drammen, Norway Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkGhouse, Jonas论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, Denmark Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkAndreasen, Laura论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, Denmark Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkHaunso, Stig论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, DK-2200 Copenhagen N, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkTveit, Arnljot论文数: 0 引用数: 0 h-index: 0机构: Vestre Viken Hosp Trust, Baerum Hosp, Dept Med Res, N-3004 Drammen, Norway Univ Oslo, Inst Clin Med, Dept Cardiol, N-0450 Oslo, Norway Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkSajadieh, Ahmad论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Dept Cardiol, DK-2400 Copenhagen NV, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkChristophersen, Ingrid Elisabeth论文数: 0 引用数: 0 h-index: 0机构: Vestre Viken Hosp Trust, Baerum Hosp, Dept Med Res, N-3004 Drammen, Norway Oslo Univ Hosp, Dept Med Genet, N-0450 Oslo, Norway Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkSvendsen, Jesper Hastrup论文数: 0 引用数: 0 h-index: 0机构: Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Clin Med, DK-2200 Copenhagen N, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, DenmarkOlesen, Morten Salling论文数: 0 引用数: 0 h-index: 0机构: Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, Denmark Copenhagen Univ Hosp, Rigshosp, Ctr Cardiac Vasc Pulm & Infect Dis, Lab Mol Cardiol,Dept Cardiol, DK-2100 Copenhagen O, Denmark Univ Copenhagen, Fac Hlth & Med Sci, Dept Biomed Sci, DK-2200 Copenhagen N, Denmark
- [16] IKs Gain- and Loss-of-Function in Early-Onset Lone Atrial FibrillationJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, 2015, 26 (07) : 715 - 723论文数: 引用数: h-index:机构:Refsgaard, Lena论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Rigshosp, Mol Cardiol Lab, Ctr Heart, DK-2100 Copenhagen, Denmark Univ Copenhagen, Dept Clin Med, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, DenmarkAndersen, Martin Nybo论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Univ Copenhagen, Dept Biomed Sci, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, DenmarkVallet, Cecilia论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Univ Copenhagen, Dept Biomed Sci, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, DenmarkMujezinovic, Amer论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Univ Copenhagen, Dept Biomed Sci, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, DenmarkHaunso, Stig论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Rigshosp, Mol Cardiol Lab, Ctr Heart, DK-2100 Copenhagen, Denmark Univ Copenhagen, Dept Clin Med, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, DenmarkSvendsen, Jesper Hastrup论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Rigshosp, Mol Cardiol Lab, Ctr Heart, DK-2100 Copenhagen, Denmark Univ Copenhagen, Dept Clin Med, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, DenmarkOlesen, Soren-Peter论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Univ Copenhagen, Dept Biomed Sci, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, DenmarkOlesen, Morten Salling论文数: 0 引用数: 0 h-index: 0机构: Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark Rigshosp, Mol Cardiol Lab, Ctr Heart, DK-2100 Copenhagen, Denmark Univ Copenhagen, Dept Clin Med, Fac Hlth & Med Sci, DK-2200 Copenhagen, Denmark Danish Natl Res Fdn, Ctr Cardiac Arrhythmia, DK-2200 Copenhagen, Denmark论文数: 引用数: h-index:机构:
- [17] Loss-of-function mutations in the filaggrin gene predispose to early but not to adult onset atopic eczemaJOURNAL OF INVESTIGATIVE DERMATOLOGY, 2007, 127 : S67 - S67Greisenegger, E.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, DIAID, Dept Dermatol, Vienna, AustriaZimprich, A.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, DIAID, Dept Dermatol, Vienna, AustriaZimprich, F.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, DIAID, Dept Dermatol, Vienna, AustriaWeber, M.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, DIAID, Dept Dermatol, Vienna, AustriaStingl, G.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, DIAID, Dept Dermatol, Vienna, AustriaKopp, T.论文数: 0 引用数: 0 h-index: 0机构: Med Univ Vienna, DIAID, Dept Dermatol, Vienna, Austria
- [18] A biallelic GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxiaEUROPEAN JOURNAL OF NEUROLOGY, 2020, 27 : 957 - 957Breza, M.论文数: 0 引用数: 0 h-index: 0Bourinaris, T.论文数: 0 引用数: 0 h-index: 0Efthymiou, S.论文数: 0 引用数: 0 h-index: 0Maroofian, R.论文数: 0 引用数: 0 h-index: 0Athanasiou-Fragkouli, A.论文数: 0 引用数: 0 h-index: 0Tzartos, J.论文数: 0 引用数: 0 h-index: 0Velonakis, G.论文数: 0 引用数: 0 h-index: 0Karavasilis, E.论文数: 0 引用数: 0 h-index: 0Angelopoulou, G.论文数: 0 引用数: 0 h-index: 0Kasselimis, D.论文数: 0 引用数: 0 h-index: 0Potagas, C.论文数: 0 引用数: 0 h-index: 0Stefanis, L.论文数: 0 引用数: 0 h-index: 0Karadima, G.论文数: 0 引用数: 0 h-index: 0Koutsis, G.论文数: 0 引用数: 0 h-index: 0Houlden, H.论文数: 0 引用数: 0 h-index: 0
- [19] A homozygous GDAP2 loss-of-function variant in a patient with adult-onset cerebellar ataxiaBRAIN, 2020, 143Breza, Marianthi论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceBourinaris, Thomas论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceEfthymiou, Stephanie论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceMaroofian, Reza论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceAthanasiou-Fragkouli, Alkyoni论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceTzartos, John论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, Greece Tzartos Neurodiagnost, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceVelonakis, Georgios论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Attikon Hosp, Dept Radiol 2, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceKaravasilis, Efstratios论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Attikon Hosp, Dept Radiol 2, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceAngelopoulou, Georgia论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Neuropsychol & Speech Pathol Unit, Dept Neurol 1, Eginit Hosp,Med Sch, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, Greece论文数: 引用数: h-index:机构:Potagas, Constantin论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Neuropsychol & Speech Pathol Unit, Dept Neurol 1, Eginit Hosp,Med Sch, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceStefanis, Leonidas论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceKaradima, Georgia论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceKoutsis, Georgios论文数: 0 引用数: 0 h-index: 0机构: Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, Greece Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, GreeceHoulden, Henry论文数: 0 引用数: 0 h-index: 0机构: UCL, Inst Neurol, Dept Neuromuscular Disorders, London WC1N 3BG, England Natl & Kapodistrian Univ Athens, Med Sch, Eginit Hosp, Dept Neurol 1, Athens, Greece
- [20] Rare CFH mutations and early-onset age-related macular degenerationACTA OPHTHALMOLOGICA, 2016, 94 (03) : E247 - +Hughes, Anne E.论文数: 0 引用数: 0 h-index: 0机构: Queens Univ Belfast, Ctr Publ Hlth, Belfast BT12 6BL, Antrim, North Ireland Queens Univ Belfast, Ctr Publ Hlth, Belfast BT12 6BL, Antrim, North IrelandMeng, Weihua论文数: 0 引用数: 0 h-index: 0机构: Queens Univ Belfast, Ctr Publ Hlth, Belfast BT12 6BL, Antrim, North Ireland Queens Univ Belfast, Ctr Publ Hlth, Belfast BT12 6BL, Antrim, North Ireland论文数: 引用数: h-index:机构:Bradley, Declan T.论文数: 0 引用数: 0 h-index: 0机构: Queens Univ Belfast, Ctr Publ Hlth, Belfast BT12 6BL, Antrim, North Ireland Publ Hlth Agcy, 12-22 Linenhall St, Belfast BT2 8BS, Antrim, North Ireland Queens Univ Belfast, Ctr Publ Hlth, Belfast BT12 6BL, Antrim, North Ireland