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19 p, 2.4 MB |
Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations
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Temprano-Sagrera, Gerard (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Sitlani, Collen M. (University of Washington) ;
Bone, William P. (University of Pennsylvania) ;
Martín Bórnez, Miguel (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Voight, Benjamin F. (University of Pennsylvania Perelman School of Medicine) ;
Morrison, Alanna C. ;
Damrauer, Scott M. ;
de Vries, Paul S. ;
Smith, Nicholas L. ;
Sabater-Lleal, Maria (Institut d'Investigació Biomèdica Sant Pau) ;
Dehghan, Abbas ;
Heath, Adam S. ;
Reiner, Alex P. ;
Johnson, Andrew ;
Richmond, Anne ;
Peters, Annette ;
van Hylckama Vlieg, Astrid ;
McKnight, Barbara ;
Psaty, Bruce M. ;
Hayward, Caroline ;
Ward-Caviness, Cavin ;
O'Donnell, Cristopher ;
Chasman, Daniel ;
Strachan, David P. ;
Tregouet, David A. ;
Mook-Kanamori, Dennis ;
Gill, Dipender ;
Thibord, Florian ;
Asselbergs, Folkert W. ;
Leebeek, Frank W. G. ;
Rosendaal, Frits R. ;
Davies, Gail ;
Homuth, Georg ;
Temprano, Gerard ;
Campbell, Harry ;
Taylor, Herman A. ;
Bressler, Jan ;
Huffman, Jennifer E. ;
Rotter, Jerome I. ;
Yao, Jie ;
Wilson, James F. ;
Bis, Joshua C. ;
Hahn, Julie M. ;
Desch, Karl C. ;
Wiggins, Kerri L. ;
Raffield, Laura M. ;
Bielak, Lawrence F. ;
Yanek, Lisa R. ;
Kleber, Marcus E. ;
Mueller, Martina ;
Kavousi, Maryam ;
Mangino, Massimo ;
Liu, Melissa ;
Brown, Michael R. ;
Conomos, Matthew P. ;
Jhun, Min-A. ;
Chen, Ming-Huei ;
de Maat, Moniek P. M. ;
Pankratz, Nathan ;
Smith, Nicholas L. ;
Peyser, Patricia A. ;
Elliot, Paul ;
Wei, Peng ;
Wild, Philipp S. ;
Morange, Pierre E. ;
van der Harst, Pim ;
Yang, Qiong ;
Le, Ngoc-Quynh ;
Marioni, Riccardo ;
Li, Ruifang ;
Damrauer, Scott M. ;
Cox, Simon R. ;
Trompet, Stella ;
Felix, Stephan B. ;
Völker, Uwe ;
Tang, Weihong ;
Koenig, Wolfgang ;
Jukema, J. Wouter ;
Guo, Xiuqing ;
Lindstrom, Sara ;
Wang, Lu ;
Smith, Erin N. ;
Gordon, William ;
van Hylckama Vlieg, Astrid ;
de Andrade, Mariza ;
Brody, Jennifer A. ;
Pattee, Jack W. ;
Haessler, Jeffrey ;
Brumpton, Ben M. ;
Suchon, Pierre ;
Chen, Ming-Huei ;
Turman, Constance ;
Germain, Marine ;
Wiggins, Kerri L. ;
MacDonald, James ;
Braekkan, Sigrid K. ;
Armasu, Sebastian M. ;
Pankratz, Nathan ;
Jackson, Rabecca D. ;
Nielsen, Jonas B. ;
Giulianini, Franco ;
Puurunen, Marja K. ;
Ibrahim, Manal ;
Heckbert, Susan R. ;
Bammler, Theo K. ;
Frazer, Kelly A. ;
McCauley, Bryan M. ;
Taylor, Kent ;
Pankow, James S. ;
Reiner, Alexander P. ;
Gabrielsen, Maiken E. ;
Deleuze, Jean-François ;
O'Donnell, Chris J. ;
Kim, Jihye ;
McKnight, Barbara ;
Kraft, Peter ;
Hansen, John-Bjarne ;
Rosendaal, Frits R. ;
Heit, John A. ;
Psaty, Bruce M. ;
Tang, Weihong ;
Kooperberg, Charles ;
Hveem, Kristian ;
Ridker, Paul M. ;
Morange, Pierre-Emmanuel ;
Johnson, Andrew D. ;
Kabrhel, Christopher ;
Trégouët, David-Alexandre ;
Smith, Nicholas L. ;
Malik, Rainer ;
Chauhan, Ganesh ;
Traylor, Matthew ;
Sargurupremraj, Muralidharan ;
Okada, Yukinori ;
Mishra, Aniket ;
Rutten-Jacobs, Loes ;
Giese, Anne-Katrin ;
van der Laan, Sander W. ;
Gretarsdottir, Solveig ;
Anderson, Christopher D. ;
Chong, Michael ;
Adams, Hieab HH. ;
Ago, Tetsuro ;
Almgren, Peter ;
Amouyel, Philippe ;
Ay, Hakan ;
Bartz, Traci M. ;
Benavente, Oscar R. ;
Bevan, Steve ;
Boncoraglio, Giorgio B. ;
Brown, Robert D. ;
Butterworth, Aadam S. ;
Carrera, Caty ;
Carty, Cara L. ;
Chen, Wei-Min ;
Cole, John W. ;
Correa, Adolfo ;
Cotlarciuc, Ioanna ;
Cruchaga, Carlos ;
Danesh, John ;
de Bakker, Paul I. W. ;
DeStefano, Anita L. ;
den Hoed, Marcel ;
Duan, Qing ;
Engelter, Stefan T. ;
Falcone, Guido J. ;
Gottesman, Rebecca F. ;
Grewal, Raji P. ;
Gudnason, Vilmundur ;
Gustafsson, Stefan ;
Haessler, Jeffrey ;
Harris, Tamara B. ;
Hassan, Ahamad ;
Havulinna, Aki S. ;
Heckbert, Susan R. ;
Holliday, Elizabeth G. ;
Howard, George ;
Hsu, Fang-Chi ;
Hyacinth, Hyacinth I. ;
Arfan Ikram, M. ;
Ingelsson, Erik ;
Irvin, Marguerite R. ;
Jian, Xueqiu ;
Jiménez-Conde, Jordi ;
Johnson, Julie A. ;
Jukema, J. Wouter ;
Kanai, Masahiro ;
Keene, Keith L. ;
Kissela, Brett M. ;
Kleindorfer, Dawn O. ;
Kooperberg, Charles ;
Kubo, Michiaki ;
Lange, Leslie A. ;
Langefeld, Carl D. ;
Langenberg, Claudia ;
Launer, Lenore J. ;
Lee, Jin-Moo ;
Lemmens, Robin ;
Leys, Didier ;
Lewis, Cathryn M. ;
Lin, Wei-Yu ;
Lindgren, Arne G. ;
Lorentzen, Erik ;
Magnusson, Patrik K. ;
Maguire, Jane ;
Manichaikul, Ani ;
McArdle, Patrick F. ;
Meschia, James F. ;
Mitchell, Braxton D. ;
Mosley, Thomas H. ;
Nalls, Michael A. ;
Ninomiya, Toshiharu ;
O'Donnell, Martin J. ;
Psaty, Bruce M. ;
Pulit, Sara L. ;
Rannikmäe, Kristiina ;
Reiner, Alexander P. ;
Rexrode, Kathryn M. ;
Rice, Kenneth ;
Rich, Stephen S. ;
Ridker, Paul M. ;
Rost, Natalia S. ;
Rothwell, Peter M. ;
Rotter, Jerome I. ;
Rundek, Tatjana ;
Sacco, Ralph L. ;
Sakaue, Saori ;
Sale, Michele M. ;
Salomaa, Veikko ;
Sapkota, Bishwa R. ;
Schmidt, Reinhold ;
Schmidt, Carsten O. ;
Schminke, Ulf ;
Sharma, Pankaj ;
Slowik, Agnieszka ;
Sudlow, Cathie L. M. ;
Tanislav, Christian ;
Tatlisumak, Turgut ;
Taylor, Kent D. ;
Thijs, Vincent N. S. ;
Thorleifsson, Gudmar ;
Thorsteinsdottir, Unnur ;
Tiedt, Steffen ;
Trompet, Stella ;
Tzourio, Christophe ;
van Duijn, Cornelia M. ;
Walters, Matthew ;
Wareham, Nicholas J. ;
Wassertheil-Smoller, Sylvia ;
Wilson, James G. ;
Wiggins, Kerri L. ;
Yang, Qiong ;
Yusuf, Salim ;
Amin, Najaf ;
Aparicio, Hugo S. ;
Arnett, Donna K. ;
Attia, John ;
Beiser, Alexa S. ;
Berr, Claudine ;
Buring, Julie E. ;
Bustamante, Mariana ;
Caso, Valeria ;
Cheng, Yu-Ching ;
Hoan Choi, Seung ;
Chowhan, Ayesha ;
Cullell, Natalia ;
Dartigues, Jean-François ;
Delavaran, Hossein ;
Delgado, Pilar ;
Dörr, Marcus ;
Engström, Gunnar ;
Ford, Ian ;
Gurpreet, Wander S. ;
Hamsten, Anders ;
Heitsch, Laura ;
Hozawa, Aatsushi ;
Ibanez, Laura ;
Ilinca, Andrea ;
Ingelsson, Martin ;
Iwasaki, Motoki ;
Jackson, Rebecca D. ;
Jood, Katarina ;
Jousilahti, Pekka ;
Kaffashian, Sara ;
Kalra, Lalit ;
Kamouchi, Masahiro ;
Kitazono, Takanari ;
Kjartansson, Olafur ;
Kloss, Manja ;
Koudstaal, Peter J. ;
Krupinski, Jerzy ;
Labovitz, Daniel L. ;
Laurie, Cathy C. ;
Levi, Christhoper R. ;
Li, Linxin ;
Lind, Lars ;
Lindgren, Cecilia M. ;
Lioutas, Vasileios ;
Mei Liu, Yong ;
Lopez, Oscar L. ;
Makoto, Hirata ;
Martinez-Majander, Nicolas ;
Matsuda, Koichi ;
Minegishi, Naoko ;
Montaner, Joan ;
Morris, Andrew P. ;
Muiño, Elena ;
Müller-Nurasyid, Martina ;
Norrving, Bo ;
Ogishima, Soichi ;
Parati, Eugenio A. ;
Reddy Peddareddygari, Leema ;
Pedersen, Nancy L. ;
Pera, Joanna ;
Perola, Markus ;
Pezzini, Alessandro ;
Pileggi, Silvana ;
Rabionet, Raquel ;
Riba-Llena, Iolanda ;
Ribasés, Marta ;
Romero, Jose R. ;
Roquer, Jaume ;
Rudd, Anthony G. ;
Sarin, Antti-Pekka ;
Sarju, Ralhan ;
Sarnowski, Chloe ;
Sasaki, Makoto ;
Satizabal, Claudia L. ;
Satoh, Mamoru ;
Sattar, Naveed ;
Sawada, Norie ;
Sibolt, Gerli ;
Sigurdsson, Ásgeir ;
Smith, Albert ;
Sobue, Kenji ;
Soriano-Tárraga, Carolina ;
Stanne, Tara ;
Colin Stine, O. ;
Stott, David J. ;
Strauch, Konstantin ;
Takai, Takako ;
Tanaka, Hideo ;
Tanno, Kozo ;
Teumer, Alexander ;
Tomppo, Liisa ;
Torres-Aguila, Nuria P. ;
Touze, Emmanuel ;
Tsugane, Shoichiro ;
Uitterlinden, Aandre G. ;
Valdimarsson, Einar M. ;
van der Lee, Sven J. ;
Völzke, Henry ;
Wakai, Kenji ;
Weir, David ;
Williams, Stephen R. ;
Wolfe, Charles D.A. ;
Wong, Quenna ;
Xu, Huichun ;
Yamaji, Taiki ;
Sanghera, Dharambir K. ;
Melander, Olle ;
Jern, Christina ;
Strbian, Daniel ;
Fernandez-Cadenas, Israel ;
Longstreth, W.T. ;
Rolfs, Arndt ;
Hata, Jun ;
Woo, Daniel ;
Rosand, Jonathan ;
Pare, Guillaume ;
Hopewell, Jemma C. ;
Saleheen, Danish ;
Stefansson, Kari ;
Worrall, BradfordB. ;
Kittner, Steven J. ;
Seshadri, Sudha ;
Fornage, Myriam ;
Markus, Hugh S. ;
Howson, Joana M. M. ;
Kamatani, Yoichiro ;
Debette, Stephanie ;
Dichgans, Martin ;
Universitat Autònoma de Barcelona
Multi-phenotype analysis of genetically correlated phenotypes can increase the statistical power to detect loci associated with multiple traits, leading to the discovery of novel loci. This is the first study to date to comprehensively analyze the shared genetic effects within different hemostatic traits, and between these and their associated disease outcomes. [...]
2022 -  10.1111/jth.15698
Journal of Thrombosis and Haemostasis, Vol. 20 Núm. 6 (01 2022) , p. 1331-1349
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25 p, 2.4 MB |
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19
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Matuozzo, Daniela (University Paris Cité) ;
Talouarn, Estelle (University Paris Cité) ;
Marchal, Astrid (University Paris Cité) ;
Zhang, Peng (Rockefeller University) ;
Manry, Jeremy (University Paris Cité) ;
Seeleuthner, Yoann (University Paris Cité) ;
Zhang, Yu (Laboratory of Clinical Immunology and Microbiology) ;
Bolze, Alexandre (Helix) ;
Chaldebas, Matthieu (The Rockefeller University) ;
Milisavljevic, Baptiste (The Rockefeller University) ;
Gervais, Adrian (University Paris Cité) ;
Bastard, Paul (Necker Hospital for Sick Children) ;
Asano, Takaki (The Rockefeller University) ;
Bizien, Lucy (University Paris Cité) ;
Barzaghi, Federica (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Abolhassani, Hassan (Children's Medical Center) ;
Abou Tayoun, Ahmad (Mohammed Bin Rashid University of Medicine and Health Sciences) ;
Aiuti, Alessandro (Vita-Salute San Raffaele University) ;
Alavi Darazam, Ilad (Loghman Hakim Hospital) ;
Allende, Luis M. (Hospital 12 de Octubre (Madrid)) ;
Alonso-Arias, Rebeca (Hospital Universitario Central de Asturias) ;
Arias, Andrés Augusto (University of Antioquia UdeA) ;
Aytekin, Gokhan (Konya City Hospital) ;
Bergman, Peter (Karolinska University Hospital and Karolinska Institutet (Suècia)) ;
Bondesan, Simone (IRCSS San Raffaele Scientific Institute) ;
Bryceson, Yenan (Karolinska Institutet (Estocolm, Suècia)) ;
Bustos, Ingrid G. (Universidad de La Sabana) ;
Cabrera-Marante, Oscar (Hospital Universitario La Paz (Madrid)) ;
Carcel, Sheila (Instituto Maimónides de Investigación Biomédica de Córdoba) ;
Carrera, Paola (IRCSS San Raffaele Scientific Institute) ;
Casari, Giorgio (Vita-Salute San Raffaele University) ;
Chaïbi, Khalil (Sorbonne University) ;
Colobrán Oriol, Roger (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Condino-Neto, Antonio (University of São Paulo) ;
Covill, Laura E. (Karolinska Institutet (Estocolm, Suècia)) ;
Delmonte, Ottavia M. (Laboratory of Clinical Immunology and Microbiology) ;
El Zein, Loubna (Lebanese University) ;
Flores, Carlos (Universidad Fernando Pessoa Canarias) ;
Gregersen, Peter K. (Feinstein Institute for Medical Research) ;
Gut, Marta (Institut de Ciència i Tecnologia de Barcelona. Institut de Recerca en Biomedicina) ;
Haerynck, Filomeen (Jeffrey Modell Diagnosis and Research Centre) ;
Halwani, Rabih (University of Sharjah) ;
Hancerli, Selda (Istanbul University) ;
Hammarström, Lennart (Karolinska Institutet (Estocolm, Suècia)) ;
Hatipoğlu, Nevin (University of Health Sciences, Turkey) ;
Karbuz, Adem (Dr. Cemil Tascioglu City Hospital, Turkey) ;
Keles, Sevgi (Necmettin Erbakan University) ;
Kyheng, Christèle (Hôpital Bicêtre) ;
Leon-Lopez, Rafael (Hospital Universitario Reina Sofía (Còrdova, Espanya)) ;
Franco, Jose Luis (University of Antioquia UDEA) ;
Mansouri, Davood (Shahid Beheshti University of Medical Sciences) ;
Martínez Picado, Francisco Javier (Institut Germans Trias i Pujol. Institut de Recerca de la Sida IrsiCaixa) ;
Metin Akcan, Ozge (Necmettin Erbakan University) ;
Migeotte, Isabelle (Centre de Génétique Humaine de L'Université Libre de Bruxelles) ;
Morange, Pierre-Emmanuel (Aix-Marseille University) ;
Morelle, Guillaume (Hôpital Bicêtre) ;
Martín-Nalda, Andrea (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Novelli, Giuseppe (IRCCS Neuromed) ;
Novelli, Antonio (Bambino Gesù Children Hospital) ;
Ozcelik, Tayfun (Bilkent University) ;
Palabiyik, Figen (University of Health Sciences, Turkey) ;
Pan-Hammarström, Qiang (Karolinska Institutet (Estocolm, Suècia)) ;
de Diego, Rebeca Pérez (Hospital Universitario La Paz (Madrid)) ;
Planas-Serra, Laura (Institut d'Investigació Biomèdica de Bellvitge) ;
Pleguezuelo, Daniel E. (Hospital 12 de Octubre (Madrid)) ;
Prando, Carolina (Instituto de Pesquisa Pelé Pequeno Príncipe) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Reyes, Luis Felipe (Universidad de La Sabana) ;
Rivière, Jacques G. (Hospital Universitari Vall d'Hebron) ;
Rodriguez-Gallego, Carlos (Universidad Fernando Pessoa Canarias) ;
Rojas, Julian (University of Antioquia UDEA) ;
Rovere-Querini, Patrizia (IRCCS San Raffaele Scientific Institute (Milà, Itàlia)) ;
Schlüter, Agatha (Institut d'Investigació Biomèdica de Bellvitge) ;
Shahrooei, Mohammad (KU Leuven.) ;
Sobh, Ali (Mansoura University Children's Hospital) ;
Soler-Palacín, Pere (Hospital Universitari Vall d'Hebron) ;
Tandjaoui-Lambiotte, Yacine (Avicenne Hospital) ;
Tipu, Imran (University of Management and Technology) ;
Tresoldi, Cristina (IRCCS Ospedale San Raffaele) ;
Troya, Jesus (Hospital Universitario Infanta Leonor) ;
van de Beek, Diederik (Amsterdam Neuroscience) ;
Zatz, Mayana (University of São Paulo) ;
Zawadzki, Pawel (Adam Mickiewicz University) ;
Al-Muhsen, Saleh Zaid (King Saud University) ;
Alosaimi, Mohammed Faraj (King Saud University) ;
Alsohime, Fahad M. (King Saud University) ;
Baris-Feldman, Hagit (Tel Aviv University) ;
Butte, Manish J. (University of California Los Angeles) ;
Constantinescu, Stefan N. (Oxford University) ;
Cooper, Megan A. (Washington University in St. Louis) ;
Dalgard, Clifton L. (Uniformed Services University of the Health Sciences) ;
Fellay, Jacques (Lausanne University Hospital) ;
Heath, James R. (Institute for Systems Biology) ;
Lau, Yu-Lung (Queen Mary Hospital) ;
Lifton, Richard P. (Yale School of Medicine) ;
Maniatis, Tom (New York Genome Center) ;
Mogensen, Trine H. (Aarhus University Hospital (Aarhus, Dinamarca)) ;
von Bernuth, Horst (Charité - Universitätsmedizin Berlin) ;
Lermine, Alban (Laboratoire de Biologie Médicale Multisites Seqoia) ;
Vidaud, Michel (Laboratoire de Biologie Médicale Multisites Seqoia) ;
Boland, Anne (Université Paris-Saclay) ;
Deleuze, Jean-François (Université Paris-Saclay) ;
Nussbaum, Robert (Invitae) ;
Kahn-Kirby, Amanda (Invitae) ;
Mentre, France (Hôpital Bichat) ;
Tubiana, Sarah (Hôpital Bichat) ;
Gorochov, Guy (CIMI-Paris) ;
Tubach, Florence (Institut Pierre Louis d'Epidémiologie et de Santé Publique) ;
Hausfater, Pierre (Sorbonne Université) ;
Meyts, Isabelle (KU Leuven) ;
Zhang, Shen-Ying (The Rockefeller University) ;
Puel, Anne (The Rockefeller University) ;
Notarangelo, Luigi (Laboratory of Host Defenses) ;
Boisson-Dupuis, Stephanie (The Rockefeller University) ;
Su, Helen C. (National Institute of Allergy and Infectious Diseases (Maryland, Estats Units d'Amèrica)) ;
Boisson, Bertrand (The Rockefeller University) ;
Jouanguy, Emmanuelle (The Rockefeller University) ;
Casanova, Jean-Laurent (Howard Hughes Medical Institute) ;
Zhang, Qian (The Rockefeller University) ;
Abel, Laurent (The Rockefeller University) ;
Cobat, Aurélie (The Rockefeller University) ;
Universitat Autònoma de Barcelona
We previously reported that impaired type I IFN activity, due to inborn errors of TLR3- and TLR7-dependent type I interferon (IFN) immunity or to autoantibodies against type I IFN, account for 15-20% of cases of life-threatening COVID-19 in unvaccinated patients. [...]
2023 - 10.1186/s13073-023-01173-8
Genome Medicine, Vol. 15 (april 2023)
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23 p, 7.9 MB |
Exome sequencing identifies rare damaging variants in ATP8B4 and ABCA1 as risk factors for Alzheimer's disease
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Holstege, Henne (Delft Bioinformatics Lab, Delft University of Technology) ;
Hulsman, Marc (Delft Bioinformatics Lab, Delft University of Technology) ;
Charbonnier, Camille (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grenier-Boley, Benjamin (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Quenez, Olivier (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Grozeva, Detelina (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
van Rooij, Jeroen G. J. (Erasmus Medical Centre. Department of Internal Medicine) ;
Sims, Rebecca (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Ahmad, Shahzad (Leiden Academic Centre for Drug Research) ;
Amin, Najaf (Nuffield Department of Population Health Oxford University) ;
Norsworthy, Penny J. (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Hummerich, Holger (Medical Research Council Prion Unit at University College London, University College London Institute of Prion Diseases) ;
Kawalia, Amit (Faculty of Medicine and University Hospital Cologne, University of Cologne. Division of Neurogenetics and Molecular Psychiatry, Department of Psychiatry and Psychotherapy) ;
Amouyel, Philippe (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Beecham, Gary W. (The John P. Hussman Institute for Human Genomics, University of Miami) ;
Berr, Claudine (Université Montpellier, INSERM, Institute for Neurosciences of Montpellier) ;
Bis, Joshua C. (University of Washington. Cardiovascular Health Research Unit, Department of Medicine) ;
Boland, Anne (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
Bossù, Paola (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Experimental Neuro-psychobiology Laboratory, Department of Clinical and Behavioral Neurology) ;
Bouwman, Femke (Amsterdam Neuroscience, Neurodegeneration) ;
Bras, Jose (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Campion, Dominique (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Cochran, J. Nicholas (HudsonAlpha Institute for Biotechnology) ;
Daniele, Antonio (Catholic University of Sacred Heart, Fondazione Policlinico Universitario A. Gemelli Istituto di Ricovero e Cura a Carattere Scientifico. Department of Neuroscience) ;
Dartigues, Jean-François (Université Bordeaux, INSERM, Bordeaux Population Health Research Center) ;
Debette, Stéphanie (Bordeaux University Hospital. Department of Neurology) ;
Deleuze, Jean-François (Université Paris-Saclay. Centre National de Recherche en Génomique Humaine) ;
Denning, Nicola (Cardiff University. UKDRI Cardiff, School of Medicine) ;
DeStefano, Anita L. (Boston University School of Medicine. Department of Neurology) ;
Farrer, Lindsay A. (Boston University. Department of Medicine (Biomedical Genetics)) ;
Fernández, Maria Victoria (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Galimberti, Daniela (University of Milan) ;
Genin, Emmanuelle (Université Brest, INSERM, Etablissement Français du Sang, Centre Hospitalier Universitaire Brest, Unité Mixte de Recherche 1078, GGB, Brest, France) ;
Gille, Johan J. P. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Le Guen, Yann (Stanford University. Department of Neurology and Neurological Sciences) ;
Guerreiro, Rita (Michigan State University College of Human Medicine. Division of Psychiatry and Behavioral Medicine) ;
Haines, Jonathan L. (Case Western Reserve University. Department of Epidemiology and Biostatistics) ;
Holmes, Clive (University of Southampton. Clinical and Experimental Science, Faculty of Medicine) ;
Ikram, M. Arfan (Erasmus Medical Centre. Department of Epidemiology) ;
Ikram, M. Kamran (Erasmus Medical Centre. Department of Epidemiology) ;
Jansen, Iris E. (Vrije University. Department of Complex Trait Genetics, Center for Neurogenomics and Cognitive Research, Amsterdam Neuroscience) ;
Kraaij, Robert (Erasmus Medical Centre. Department of Internal Medicine) ;
Lathrop, Marc (McGill University and Genome Quebec Innovation Centre) ;
Lemstra, Afina W. (Amsterdam Neuroscience, Neurodegeneration) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Luckcuck, Lauren (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics) ;
Mannens, Marcel M. A. M. (University of Amsterdam, Amsterdam Reproduction and Development Research Institute. Department of Human Genetics, Amsterdam UMC) ;
Marshall, Rachel (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Martin, Eden R. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Masullo, Carlo (Institute of Neurology, Catholic University of the Sacred Heart) ;
Mayeux, Richard (Columbia University. Gertrude H. Sergievsky Center) ;
Mecocci, Patrizia (University of Perugia. Institute of Gerontology and Geriatrics, Department of Medicine and Surgery) ;
Meggy, Alun (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Mol, Merel O. (Erasmus Medical Centre. Department of Neurology) ;
Morgan, Kevin (University of Nottingham. Human Genetics, School of Life Sciences) ;
Myers, Richard M. (HudsonAlpha Institute for Biotechnology) ;
Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Napolioni, Valerio (Genomic and Molecular Epidemiology Laboratory, School of Biosciences and Veterinary Medicine, University of Camerino) ;
Pasquier, Florence (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, UMR1172, Resources and Research Memory Center (MRRC) of Distalz, Licend) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Pericak-Vance, Margaret A. (University of Miami. Dr. John T. Macdonald Foundation Department of Human Genetics) ;
Raybould, Rachel (Cardiff University. UKDRI Cardiff, School of Medicine) ;
Redon, Richard (Université de Nantes, Centre Hospitalier Universitaire Nantes, Centre National de la Recherche Scientifique, INSERM, l'institut du Thorax) ;
Reinders, Marcel J. T. (Delft Bioinformatics Lab, Delft University of Technology) ;
Richard, Anne-Claire (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Riedel-Heller, Steffi G. (Institute of Social Medicine, Occupational Health and Public Health, University of Leipzig) ;
Rivadeneira, Fernando (Erasmus Medical Centre. Department of Internal Medicine) ;
Rousseau, Stéphane (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Ryan, Natalie S. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Saad, Salha (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Sánchez-Juan, Pascual (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Schellenberg, Gerard D. (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Scheltens, Philip (Amsterdam Neuroscience, Neurodegeneration) ;
Schott, Jonathan M. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Seripa, Davide (Laboratory for Advanced Hematological Diagnostics, Department of Hematology and Stem Cell Transplant, Lecce, Italy) ;
Seshadri, Sudha (Department of Psychiatry and Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases, San Antonio, TX USA) ;
Sie, Daoud (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sistermans, Erik A. (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ;
van Spaendonk, Resie (VU University, AmsterdamUMC (location VUmc). Genome Diagnostics, Department of Human Genetics) ;
Spalletta, Gianfranco (Istituto di Ricovero e Cura a Carattere Scientifico Santa Lucia Foundation. Laboratory of Neuropsychiatry, Department of Clinical and Behavioral Neurology) ;
Tesi, Niccolo (Delft Bioinformatics Lab, Delft University of Technology) ;
Tijms, Betty (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Uitterlinden, André G. (Erasmus Medical Centre. Department of Internal Medicine) ;
van der Lee, Sven J. (Delft Bioinformatics Lab, Delft University of Technology) ;
Visser, Pieter Jelle (Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc. Alzheimer Center Amsterdam, Neurology) ;
Wagner, Michael (German Center for Neurodegenerative Diseases) ;
Wallon, David (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Wang, Li-San (University of Pennsylvania Perelman School of Medicine. Penn Neurodegeneration Genomics Center, Department of Pathology and Laboratory Medicine) ;
Zarea, Aline (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Neurology and CNRMAJ) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
van Swieten, John C. (Erasmus Medical Centre. Department of Neurology) ;
Greicius, Michael D. (Stanford University. Department of Neurology and Neurological Sciences) ;
Yokoyama, Jennifer S. (University of California. Memory and Aging Center, Department of Neurology) ;
Cruchaga, Carlos (Washington University School of Medicine. Hope Center for Neurological Disorders) ;
Hardy, John (University College London Institute of Neurology. Reta Lila Weston Research Laboratories, Department of Molecular Neuroscience) ;
Ramirez, Alfredo (University of Cologne. Cluster of Excellence Cellular Stress Responses in Aging-Associated Diseases) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
van der Flier, Wiesje M. (Amsterdam Neuroscience, Neurodegeneration) ;
van Duijn, Cornelia M. (Nuffield Department of Population Health Oxford University) ;
Williams, Julie (Cardiff University. Medical Research Council Centre for Neuropsychiatric Genetics and Genomics,, Division of Psychological Medicine and Clinical Neuroscience, School of Medicine) ;
Nicolas, Gaël (Université Rouen Normandie, INSERM U1245 and CHU Rouen, Department of Genetics and CNRMAJ) ;
Bellenguez, Céline (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Lambert, Jean-Charles (Université Lille, INSERM, Centre Hospitalier Universitaire Lille, Institut Pasteur de Lille, U1167-RID-AGE facteurs de risque et déterminants moléculaires des maladies liées au vieillissement) ;
Universitat Autònoma de Barcelona
Alzheimer's disease (AD), the leading cause of dementia, has an estimated heritability of approximately 70% . The genetic component of AD has been mainly assessed using genome-wide association studies, which do not capture the risk contributed by rare variants . [...]
2022 - 10.1038/s41588-022-01208-7
Nature genetics, Vol. 54 (november 2022) , p. 1786-1794
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A postzygotic de novo NCDN mutation identified in a sporadic FTLD patient results in neurochondrin haploinsufficiency and altered FUS granule dynamics
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Nicolas, Gaël (Normandie University) ;
Sévigny, Myriam (Laval University) ;
Lecoquierre, François (Normandie University) ;
Marguet, Florent (Normandie University) ;
Deschênes, Andréanne (Laval University) ;
del Pelaez, Maria Carment (Laval University) ;
Feuillette, Sébastien (Normandie University) ;
Audebrand, Anaïs (Laval University) ;
Lecourtois, Magalie (Normandie University) ;
Rousseau, Stéphane (Normandie University) ;
Richard, Anne-Claire (Normandie University) ;
Cassinari, Kévin (Normandie University) ;
Deramecourt, Vincent (University of Lille) ;
Duyckaerts, Charles (Hôpital de la Pitié-Salpêtrière) ;
Boland, Anne (Université Paris-Saclay) ;
Deleuze, Jean-François (Université Paris-Saclay) ;
Meyer, Vincent (Université Paris-Saclay) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Gelpi, Ellen (Medical University of Vienna) ;
Akiyama, Haruhiko (Tokyo Metropolitan Institute of Medical Science) ;
Hasegawa, Masato (Tokyo Metropolitan Institute of Medical Science) ;
Kawakami, Ito (Tokyo Metropolitan Institute of Medical Science) ;
Wong, Tsz H. (Erasmus Medical Center) ;
Van Rooij, Jeroen G. J. (Erasmus Medical Center) ;
Van Swieten, John C. (Erasmus Medical Center) ;
Campion, Dominique (Normandie University) ;
Dutchak, Paul A. (Laval University) ;
Wallon, David (Normandie University) ;
Lavoie-Cardinal, Flavie (Laval University) ;
Laquerrière, Annie (Normandie University) ;
Rovelet-Lecrux, Anne (Normandie University) ;
Sephton, Chantelle F. (Laval University) ;
Universitat Autònoma de Barcelona
Frontotemporal dementia (FTD) is a heterogeneous clinical disorder characterized by progressive abnormalities in behavior, executive functions, personality, language and/or motricity. A neuropathological subtype of FTD, frontotem‑poral lobar degeneration (FTLD)-FET, is characterized by protein aggregates consisting of the RNA-binding protein fused in sarcoma (FUS). [...]
2022 - 10.1186/s40478-022-01314-x
Acta neuropathologica communications, Vol. 10 (february 2022)
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