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Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease

Rebecca Sims, GERAD/PERADES, CHARGE, ADGC, EADI, Sven J. van der Lee, Adam C. Naj, Céline Bellenguez, Nandini Badarinarayan, Jóhanna Jakobsdóttir, Brian W. Kunkle, Anne Boland, Rachel Raybould, Joshua C. Bis, Eden R. Martin, Benjamin Grenier‐Boley, Stefanie Heilmann‐Heimbach, Vincent Chouraki, Amanda Kuzma, Kristel Sleegers, Maria Vronskaya, Agustı́n Ruiz, Robert Graham, Robert Olaso, Per Hoffmann, Megan L. Grove, Badri N. Vardarajan, Mikko Hiltunen, Markus M. Nöthen, Charles C. White, Kara L. Hamilton‐Nelson, Jacques Epelbaum, Wolfgang Maier, Seung-Hoan Choi, Gary W. Beecham, Cécile Dulary, Stefan Herms, Albert V. Smith, Cory C. Funk, Céline Derbois, Andreas J. Forstner, Shahzad Ahmad, Hong‐Dong Li, Delphine Bacq, Denise Harold, Claudia L. Satizábal, Otto Valladares, Alessio Squassina, Rhodri Thomas, Jennifer A. Brody, Liming Qu, Pascual Sánchez‐Juan, Taniesha Morgan, Frank J. Wolters, Yi Zhao, Florentino Sánchez-García, Nicola Denning, Myriam Fornage, John Malamon, María Cándida Déniz Naranjo, Elisa Majounie, Thomas H. Mosley, Beth A. Dombroski, David Wallon, Michelle K. Lupton, Josée Dupuis, Patrice L. Whitehead, Laura Fratiglioni, Christopher Medway, Xueqiu Jian, Shubhabrata Mukherjee, Lina Keller, Kristelle Brown, Honghuang Lin, Laura B. Cantwell, Francesco Panza, Bernadette McGuinness, Sonia Moreno–Grau, Jeremy D. Burgess, Vincenzo Solfrizzi, Petroula Proitsi, Hieab H.H. Adams, Mariet Allen, Davide Seripa, Pau Pástor, L. Adrienne Cupples, Nathan D. Price, Didier Hannequin, Ana Frank, Daniel Levy, Paramita Chakrabarty, Paolo Caffarra, Ina Giegling, Alexa Beiser, Vilmantas Giedraitis, Harald Hampel, Melissa E. Garcia, Xue Wang, Lars Lannfelt, Patrizia Mecocci, Gudny Eiriksdottir, Paul K. Crane, Florence Pasquier, Virginia Boccardi, Isabel Henández, Robert C. Barber, Martin Scherer, Lluís Tárraga, Perrie M. Adams, Markus Leber, Yuning Chen, Marilyn S. Albert, Steffi G. Riedel‐Heller, Valur Emilsson, Duane Beekly, Anne Braae, Reinhold Schmidt, Deborah Blacker, Carlo Masullo, Helena Schmidt, Rachelle S. Doody, Gianfranco Spalletta, W. T. Longstreth, Thomas Fairchild, Paola Bossù, Oscar L. López, Matthew P. Frosch, Eleonora Sacchinelli, Bernardino Ghetti, Qiong Yang, Ryan Huebinger, Frank Jessen, Shuo Li, M. Ilyas Kamboh, John C. Morris, Óscar Sotolongo‐Grau, Mindy J. Katz, Chris Corcoran, Melanie Dunstan, Amy Braddel, Charlene Thomas, Alun Meggy, Iain Marshall, Amy Gerrish, Jade Chapman, Miquel Aguilar, Sarah Taylor, Matt Hill, Mónica Díez-Fairén, Angela Hodges, Bruno Vellas, Hilkka Soininen, Iwona Kłoszewska, Makrina Daniilidou, James Uphill, Yogen Patel, Joseph T. Hughes, Jenny Lord, James Turton, Annette M. Hartmann, Roberta Cecchetti, Chiara Fenoglio, María Serpente, Marina Arcaro, Carlo Caltagirone, Maria Donata Orfei, Antonio Ciaramella, Sabrina Pichler, Manuel Mayhaus, Wei Gu, Alberto Lleó, Juan Fortea, Rafael Blesa, Imelda Barber, Keeley J. Brookes, Chiara Cupidi, Raffaele Maletta, David Carrell, Sandro Sorbi, Susanne Moebus, Maria Urbano, Alberto Pilotto, Johannes Kornhuber, Paolo Bosco, Stephen Todd, David Craig, Janet Johnston, Michael Gill, Brian Lawlor, Aoibhinn Lynch, Nick C. Fox, John Hardy, Roger L. Albin, Liana G. Apostolova, Steven E. Arnold, Sanjay Asthana, Craig Atwood, Clinton T. Baldwin, Lisa L. Barnes, Sandra Barral, Thomas G. Beach, James T. Becker, Eileen H. Bigio, Thomas D. Bird, Bradley F. Boeve, James D. Bowen, Adam Boxer, James R. Burke, Jeffrey M. Burns, Joseph D. Buxbaum, Nigel J. Cairns, Chuanhai Cao, Chris Carlson, Cynthia M. Carlsson, Regina M. Carney, Minerva M. Carrasquillo, Steven L. Carroll, Carolina Ceballos Diaz, Helena C. Chui, David G. Clark, David H. Cribbs, Elizabeth Crocco, Charles DeCarli, Malcolm Dick, Ranjan Duara, Denis A. Evans, Kelley M. Faber, Kenneth B. Fallon, David W. Fardo, Martin R. Farlow, Steven H. Ferris, Tatiana M. Foroud, Douglas Galasko, Marla Gearing, Daniel H. Geschwind, John R. Gilbert, Caroline Graff, Robert C. Green, John H. Growdon, Ronald L. Hamilton, Lindy E. Harrell, Lawrence S. Honig, Matthew J. Huentelman, Christine M. Hulette, Bradley T. Hyman, Gail P. Jarvik, Erin L. Abner, Lee‐Way Jin, Gyungah Jun, Anna Karydas, Jonathan Kaye, Ronald Kim, Neil W. Kowall, Joel H. Kramer, Frank M. LaFerla, James J. Lah, James B. Leverenz, Allan I. Levey, Ge Li, Andrew P. Lieberman, Kathryn L. Lunetta, Constantine G. Lyketsos, Daniel Marson, Frank Martiniuk, Deborah C. Mash, Eliezer Masliah, Wayne C. McCormick, Susan M. McCurry, Andrew McDavid, Ann C. McKee, Marsel Mesulam, Bruce L. Miller, Carol A. Miller, Joshua W. Miller, John C. Morris, Jill R. Murrell, Amanda Myers, Sid E. O’Bryant, John Olichney, V. Shane Pankratz, Joseph E. Parisi, Henry L. Paulson, William Perry, Elaine R. Peskind, Aimee Pierce, Wayne W. Poon, Huntington Potter, Joseph F. Quinn, Ashok Raj, Murray A. Raskind, ‌Barry Reisberg, Christiane Reitz, John M. Ringman, Erik D. Roberson, Ekaterina Rogaeva, Howard J. Rosen, Roger N. Rosenberg, Mark A. Sager, Andrew J. Saykin, Julie A. Schneider, Lon S. Schneider, William W. Seeley, Amanda Smith, Joshua A. Sonnen, Salvatore Spina, Robert A. Stern, Russell H. Swerdlow, Rudolph E. Tanzi, Tricia A. Thornton‐Wells, John Q. Trojanowski, Juan C. Troncoso, Vivianna M. Van Deerlin, Linda J. Van Eldik, Harry V. Vinters, Jean Paul Vonsattel, Sandra Weıntraub, Kathleen A. Welsh‐Bohmer, Kirk C. Wilhelmsen, Jennifer Williamson, Thomas S. Wingo, Randall L. Woltjer, Clinton B. Wright, Chang‐En Yu, Lei Yu, Fabienne Garzia, Feroze Golamaully, Gislain Septier, Sebastien Engelborghs, Rik Vandenberghe, Peter Paul De Deyn, Carmen Muñoz Fernadez, Yolanda Aladro, Håkan Thonberg, Charlotte Forsell, Lena Lilius, Anne Kinhult‐Ståhlbom, Lena Kilander, RoseMarie Brundin, Letizia Concari, Seppo Helisalmi, Anne M. Koivisto, Annakaisa Haapasalo, Vincent Dermecourt, Nathalie Fiévet, Olivier Hanon, Carole Dufouil, Alexis Brice, Karen Ritchie, Bruno Dubois, J.J. Himali, C. Dirk Keene, JoAnn T. Tschanz, Annette L. Fitzpatrick, Walter A. Kukull, Maria C. Norton, Thor Aspelund, Eric B. Larson, Ron Munger, Jerome I. Rotter, Richard B. Lipton, María J. Bullido, Albert Hofman, Thomas J. Montine, Eliécer Coto, Eric Boerwinkle, Ronald C. Petersen, Victoria Álvarez, Fernando Rivadeneira, Eric M. Reiman, Maura Gallo, Christopher J. O’Donnell, Joan Reisch, Amalia C. Bruni, Donald R. Royall, Martin Dichgans, Mary Sano, Daniela Galimberti, Peter St George‐Hyslop, Elio Scarpini, Debby W. Tsuang, Michelangelo Mancuso, Ubaldo Bonuccelli, Ashley R. Winslow, Antonio Daniele, Chuang‐Kuo Wu, Oliver Peters, Benedetta Nacmias, Markus J. Riemenschneider, Reinhard Heun, Carol Brayne, David C. Rubinsztein, José Brás, Rita Guerreiro, Ammar Al‐Chalabi, Christopher E. Shaw, John Collinge, David Mann, Magda Tsolaki, Jordi Clarimón, Rebecca Sussams, Simon Lovestone, Michael O‘Donovan, Michael J. Owen, Timothy W. Behrens, Simon Mead, Alison Goate, André G. Uitterlinden, Clive Holmes, Carlos Cruchaga, Martin Ingelsson, David A. Bennett, John Powell, Todd E. Golde, Caroline Graff, Philip L. De Jager, Kevin Morgan, Nilüfer Ertekin‐Taner, Onofre Combarros, Bruce M. Psaty, Peter Passmore, Steven G. Younkin, Claudine Berr, Vilmundur Guðnason, Dan Rujescu, Dennis W. Dickson, Jean‐François Dartigues, Anita L. DeStefano, Sara Ortega‐Cubero, Håkon Håkonarson, Dominique Campion, Merçé Boada, John Kauwe, Lindsay A. Farrer, Christine Van Broeckhoven, M. Arfan Ikram, Lesley Jones, Jonathan L. Haines, Christophe Tzourio, Lenore J. Launer, Valentina Escott‐Price, Richard Mayeux, Jean‐François Deleuze, Najaf Amin, Peter Holmans, Margaret A Pericak‐Vance, Philippe Amouyel, Cornelia M. van Duijn, Alfredo Ramı́rez, Li‐San Wang, Jean‐Charles Lambert, Sudha Seshadri, Julie Williams, Gerard D. Schellenberg

Nature Genetics, 2017

Cardiff University, Erasmus MC, University of Pennsylvania, Inserm, Université de Lille, Institut Pasteur de Lille, Icelandic Heart Association, University of Miami, Dr. John T. Macdonald Foundation, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, Genoscope, University of Washington, University of Bonn, Life & Brain (Germany), Boston University, University of Antwerp, VIB-UAntwerp Center for Molecular Neurology, Fundació ACE, University of Basel, University Hospital of Basel, The University of Texas Health Science Center at Houston, Columbia University, University of Eastern Finland, Kuopio University Hospital, Brigham and Women's Hospital, Université Paris Cité, German Center for Neurodegenerative Diseases, University of Iceland, University of South Florida, Institute for Systems Biology, USF Health Byrd Alzheimer's Institute, Dublin City University, University of Cagliari, Universidad de Cantabria, Marqués de Valdecilla University Hospital, Centro de Investigación Biomédica en Red, Hospital Universitario de Gran Canaria Doctor Negrín, Brown Foundation, University of Mississippi Medical Center, Centre Hospitalier du Rouvray, Université de Rouen Normandie, King's College London, QIMR Berghofer Medical Research Institute, Karolinska University Hospital, Stockholm University, Karolinska Institutet, University of Nottingham, Queen's Medical Centre, University of Bari Aldo Moro, Queen's University Belfast, Jacksonville College, Mayo Clinic in Florida, Casa Sollievo della Sofferenza, Istituti di Ricovero e Cura a Carattere Scientifico, University of Perugia, Instituto de Salud Carlos III, Biomedical Research Networking Center on Neurodegenerative Diseases, Hospital La Paz Institute for Health Research, Universidad Autónoma de Madrid, National Heart Lung and Blood Institute, University of Florida, University of Parma, Martin Luther University Halle-Wittenberg, Uppsala University, Sorbonne Université, AXA Research Fund, Institut du Cerveau, National Institute on Aging, Centre Hospitalier Universitaire de Lille, University of North Texas, University of North Texas Health Science Center, Universität Hamburg, University Medical Center Hamburg-Eppendorf, The University of Texas Southwestern Medical Center, University of Cologne, Johns Hopkins University, Leipzig University, Medical University of Graz, Harvard University, Massachusetts General Hospital, Università Cattolica del Sacro Cuore, Baylor College of Medicine, Fondazione Santa Lucia, University of Pittsburgh, Indiana University – Purdue University Indianapolis, Washington University in St. Louis, Albert Einstein College of Medicine, Utah State University, Hospital Terrassa, University Hospital Mútua de Terrassa, Mútua Terrassa, Fundació Clínic per a la Recerca Biomèdica, Université Fédérale de Toulouse Midi-Pyrénées, Medical University of Lodz, University of Leicester, MRC Prion Unit, University College London, University of Milan, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Saarland University, Universitat Autònoma de Barcelona, Hospital de Sant Pau, Don Carlo Gnocchi Foundation, University of Florence, University of Duisburg-Essen, Friedrich-Alexander-Universität Erlangen-Nürnberg, Oasi Maria SS, Trinity College Dublin, University of Michigan, VA Ann Arbor Healthcare System, Geriatric Research Education and Clinical Center, Indiana University School of Medicine, University of Wisconsin–Madison, Rush University Medical Center, Banner Sun Health Research Institute, Northwestern University, VA Puget Sound Health Care System, Mayo Clinic, Swedish Medical Center, University of California, San Francisco, Duke University, University of Kansas Medical Center, Icahn School of Medicine at Mount Sinai, Fred Hutch Cancer Center, Medical University of South Carolina, University of Southern California, Ralph H. Johnson VA Medical Center, University of California, Irvine, University of California, Davis, Mount Sinai Medical Center, University of Alabama at Birmingham, University of Kentucky, New York University, University of California San Diego, Emory University, University of California, Los Angeles, Translational Genomics Research Institute, University of Washington Medical Center, Oregon Health & Science University, Portland VA Medical Center, Cleveland Clinic, Lou Ruvo Brain Institute, University of New Mexico, University of Colorado Denver, University of Toronto, Occupational Cancer Research Centre, University of North Carolina at Chapel Hill, KU Leuven, Assistance Publique – Hôpitaux de Paris, Hôpital Broca, Université de Bordeaux, Bordeaux Population Health, Neurocentre Magendie, Centre National de la Recherche Scientifique, Pitié-Salpêtrière Hospital, Centre Hospitalier Universitaire de Montpellier, Group Health Cooperative, Kaiser Permanente Washington Health Research Institute, The Lundquist Institute, Harbor–UCLA Medical Center, Centro de Biología Molecular Severo Ochoa, Hospital Universitario Central de Asturias, Baylor Genetics, Netherlands Consortium for Healthy Ageing, Alzheimer's Association, University of Arizona, Banner Alzheimer’s Institute, Arizona Alzheimer’s Consortium, The University of Texas at San Antonio Health Science Center, South Texas Veterans Health Care System, LMU Klinikum, University of Cambridge, University of Pisa, Pfizer (United States), Therapeutics Clinical Research, Texas Tech University, Texas Tech University Health Sciences Center, Charité - Universitätsmedizin Berlin, University of Aveiro, University of Manchester, Aristotle University of Thessaloniki, University of Southampton, University of Oxford, University of Florida Health, Columbia University Irving Medical Center, Institute of Neuroimmunology of the Slovak Academy of Sciences, Université de Montpellier, Hôpital Gui de Chauliac, Complejo Asistencial Universitario de Palencia, Universidad de Navarra, Children's Hospital of Philadelphia, Brigham Young University, Case Western Reserve University

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