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8.
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14 p, 1.2 MB |
GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways
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López-Isac, Elena (Institute of Parasitology and Biomedicine López-Neyra) ;
Acosta-Herrera, Marialbert (Institute of Parasitology and Biomedicine López-Neyra) ;
Kerick, Martin (Institute of Parasitology and Biomedicine López-Neyra) ;
Assassi, Shervin (The University of Texas Health Science Center-Houston) ;
Satpathy, Ansuman (Stanford University) ;
Granja, Jeffrey (Stanford University) ;
Mumbach, Maxwell (Stanford University) ;
Beretta, Lorenzo (Referral Center for Systemic Autoimmune Diseases) ;
Simeón-Aznar, Carmen Pilar (Hospital Universitari Vall d'Hebron) ;
Carreira, Patricia E. (Hospital Universitario 12 de Octubre) ;
Ortego-Centeno, Norberto (San Cecilio Clinic University Hospital) ;
Castellvi, Ivan (Institut d'Investigació Biomèdica Sant Pau) ;
Bossini-Castillo, Lara (Wellcome Trust Sanger Institute (Regne Unit)) ;
Carmona, F. David (Universidad de Granada) ;
Orozco, Gisela (The University of Manchester) ;
Hunzelmann, Nicolas (University of Cologne) ;
Distler, Jörg H. W. (University of Erlangen-Nuremberg) ;
Franke, Andre (Christian-Albrechts-University of Kiel) ;
Lunardi, Claudio (Università degli Studi di Verona) ;
Moroncini, Gianluca (Università Politecnica delle Marche and Ospedali Riuniti) ;
Gabrielli, Armando (Università Politecnica delle Marche and Ospedali Riuniti) ;
de Vries-Bouwstra, Jeska (Leiden University Medical Center) ;
Wijmenga, Cisca (University of Groningen) ;
Koeleman, Bobby (University Medical Center Utrecht) ;
Nordin, Annika (Karolinska Institutet (Estocolm, Suècia)) ;
Padyukov, Leonid (Karolinska Institutet (Estocolm, Suècia)) ;
Hoffmann-Vold, Anna-Maria (Oslo University Hospital) ;
Lie, Benedicte A. (University of Oslo and Oslo University Hospital) ;
Ríos, Raquel (San Cecilio Clinic University Hospital) ;
Callejas Rubio, Jose Luis (San Cecilio Clinic University Hospital) ;
Vargas-Hitos, José Antonio (Hospital Virgen de las Nieves (Granada, Andalusia)) ;
García-Portales, Rosa (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Camps, María Teresa (Carlos Haya Hospital) ;
Fernández-Nebro, Antonio (Carlos Haya Hospital) ;
González-Escribano, Maria Francisca (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
García-Hernández, Francisco Jose (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Castillo, María Jesús (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Aguirre, Mª Angeles (Hospital Reina Sofía/IMIBIC) ;
Gómez-Gracia, Inmaculada (Hospital Reina Sofía/IMIBIC) ;
Fernández-Gutiérrez, B. (San Carlos Clinic Hospital) ;
Rodríguez-Rodríguez, L. (San Carlos Clinic Hospital) ;
García de la Peña, Paloma (Madrid Norte Sanchinarro Hospital) ;
Vicente-Rabaneda, Esther Francisca (Hospital Universitario de la Princesa (Madrid)) ;
Andréu, José Luis (Puerta de Hierro Hospital-Majadahonda) ;
Fernández de Castro, Mónica (Puerta de Hierro Hospital-Majadahonda) ;
López-Longo, Francisco Javier (Hospital General Universitario Gregorio Marañón) ;
Martínez, Lina Patricia (Hospital General Universitario Gregorio Marañón) ;
Fonollosa, Vicenç (Hospital Universitari Vall d'Hebron) ;
Guillén, Alfredo Chávez (Hospital Universitari Vall d'Hebron) ;
Espinosa, Gerard (Hospital Clínic i Provincial de Barcelona) ;
Tolosa-Vilella, Carles (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Pros, Ana (Hospital del Mar (Barcelona, Catalunya)) ;
Rodríguez-Carballeira, M. (Hospital Universitari MútuaTerrassa) ;
Narváez, Francisco J. (Hospital Universitari de Bellvitge) ;
Rubio Rivas, Manuel (Hospital Universitari de Bellvitge) ;
Ortiz-Santamaría, None (Hospital Granollers) ;
Madroñero, A.B. (Hospital General Universitario San Jorge (Osca, Aragó)) ;
González-Gay, M.A. (Universidad de Cantabria) ;
Díaz, B. (Hospital Universitario Central de Asturias) ;
Trapiella, L. (Hospital Universitario Central de Asturias) ;
Sousa, A. (Hospital Xeral-Complexo Hospitalario Universitario de Vigo) ;
Egurbide, M.V. (Hospital Universitario Cruces) ;
Fanlo-Mateo, P. (Hospital Virgen del Camino (Pamplona)) ;
Sáez-Comet, L. (Hospital Universitario Miguel Servet (Saragossa)) ;
Díaz, F. (Hospital Universitario de Canarias) ;
Hernández, None (Hospital Universitario de Canarias) ;
Beltrán, E. (Hospital General Universitario de Valencia) ;
Román-Ivorra, J.A. (Hospital Universitari i Politècnic La Fe de València) ;
Grau, E. (Hospital Universitari i Politècnic La Fe de València) ;
Alegre-Sancho, Juan José (Hospital Universitari Doctor Peset) ;
Freire, M. (Complexo Hospitalario Universitario de Vigo) ;
Blanco-García, F.J (INIBIC-Hospital Universitario A Coruña) ;
Oreiro, N. (INIBIC-Hospital Universitario A Coruña) ;
Witte, T. (Hannover Medical School) ;
Kreuter, A. (Ruhr University Bochum) ;
Riemekasten, G. (University of Lübeck) ;
Airò, Paolo (Service of Rheumatology and Clinic Immunology Spedali Civili) ;
Magro-Checa, César (Leiden University Medical Center) ;
Voskuyl, A.E. (Amsterdam UMC. University Medical Center) ;
Vonk, Madelon C. (Radboud University Nijmegen Medical Center) ;
Hesselstrand, Roger (Lund University) ;
Proudman, Susanna (Royal Adelaide Hospital and University of Adelaide) ;
Stevens, Wendy (St. Vincent's Hospital) ;
Nikpour, Mandana (The University of Melbourne at St. Vincent's Hospital) ;
Zochling, Jane M. (University of Tasmania) ;
Sahhar, Joanne (Monash Medical Centre) ;
Roddy, Janet (Cincinnati Children's Hospital Medical Center (CCHMC). Center for Fetal and Placental Research) ;
Nash, Peter (Sunshine Coast Rheumatology) ;
Tymms, Kathleen (Canberra Rheumatology) ;
Rischmueller, Maureen (The Queen Elizabeth Hospital) ;
Lester, S. (The Queen Elizabeth Hospital) ;
Vyse, Timothy (King's College London) ;
Herrick, Ariane (NIHR Manchester Biomedical Research Centre) ;
Worthington, Jane (The University of Manchester) ;
Denton, Christopher P (Royal Free and University College Medical School) ;
Allanore, Yannick (Paris Descartes University) ;
Brown, Matthew A. (Princess Alexandra Hospital) ;
Radstake, Timothy R. D. J. (University Medical Center Utrecht) ;
Fonseca, Carmen (Royal Free and University College Medical School) ;
Chang, Howard Y. (Stanford University) ;
Mayes, Maureen D (The University of Texas Health Science Center-Houston) ;
Martín, Javier (Institute of Parasitology and Biomedicine López-Neyra) ;
Universitat Autònoma de Barcelona
Systemic sclerosis (SSc) is an autoimmune disease that shows one of the highest mortality rates among rheumatic diseases. We perform a large genome-wide association study (GWAS), and meta-analysis with previous GWASs, in 26,679 individuals and identify 27 independent genome-wide associated signals, including 13 new risk loci. [...]
2019 -  10.1038/s41467-019-12760-y
Nature communications, Vol. 10 Núm. 1 (january 2019) , p. 4955
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9.
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63 p, 25.7 MB |
A draft human pangenome reference
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Liao, Wen-Wei (Washington University School of Medicine) ;
Asri, Mobin (University of California) ;
Ebler, Jana (Heinrich Heine University) ;
Doerr, Daniel (Heinrich Heine University) ;
Haukness, Marina (University of California) ;
Hickey, Glenn (University of California) ;
Lu, Shuangjia (Yale University School of Medicine) ;
Lucas, Julian K. (University of California) ;
Monlong, Jean (University of California) ;
Abel, Haley J. (Washington University School of Medicine) ;
Buonaiuto, Silvia (Consiglio Nazionale delle Ricerche. Istituto di Genetica e Biofisica) ;
Chang, Xian H. (University of California) ;
Cheng, Haoyu (Harvard Medical School) ;
Chu, Justin (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
Colonna, Vincenza (University of Tennessee Health Science Center) ;
Eizenga, Jordan (University of California) ;
Feng, Xiaowen (Harvard Medical School) ;
Fischer, Christian (University of Tennessee Health Science Center) ;
Fulton, Robert S. (Washington University School of Medicine) ;
Garg, Shilpa (Technical University of Denmark) ;
Groza, Cristian (McGill University) ;
Guarracino, Andrea (Tecnopolo umano. Centro di ricerca sulla genomica) ;
Harvey, William T. (University of Washington School of Medicine) ;
Heumos, Simon (University of Tübingen) ;
Howe, Kerstin (Wellcome Trust Sanger Institute (Regne Unit)) ;
Jain, Miten (Northeastern University (USA)) ;
Lu, Tsung-Yu (University of Southern California) ;
Markello, Charles (University of California) ;
Martin, Fergal J. (Wellcome Genome Campus (UK)) ;
Mitchell, Matthew W. (Coriell Institute for Medical Research (USA)) ;
Munson, Katherine M. (University of Washington School of Medicine) ;
Mwaniki, Moses Njagi (Università di Pisa) ;
Novak, Adam M. (University of California) ;
Olsen, Hugh E. (University of California) ;
Pesout, Trevor (University of California) ;
Porubsky, David (University of Washington School of Medicine) ;
Prins, Pjotr (University of Tennessee Health Science Center) ;
Sibbesen, Jonas A. (University of Copenhagen) ;
Sirén, Jouni (University of California) ;
Tomlinson, Chad (Washington University School of Medicine) ;
Villani, Flavia (University of Tennessee Health Science Center) ;
Vollger, Mitchell R. (University of Washington School of Medicine) ;
Antonacci-Fulton, Lucinda L. (Washington University School of Medicine) ;
Baid, Gunjan (Google (USA)) ;
Baker, Carl A. (University of Washington School of Medicine) ;
Belyaeva, Anastasiya (Google (USA)) ;
Billis, Konstantinos (Wellcome Genome Campus (UK)) ;
Carroll, Andrew (Google (USA)) ;
Chang, Pi-Chuan (Google (USA)) ;
Cody, Sarah (Washington University School of Medicine) ;
Cook, Daniel E. (Google (USA)) ;
Cook-Deegan, Robert M. (Arizona State University) ;
Cornejo, Omar E. (University of California) ;
Diekhans, Mark (University of California) ;
Ebert, Peter (Heinrich Heine University) ;
Fairley, Susan (Wellcome Genome Campus (UK)) ;
Fedrigo, Olivier (The Rockefeller University) ;
Felsenfeld, Adam L. (National Institutes of Health (USA)) ;
Formenti, Giulio (The Rockefeller University) ;
Frankish, Adam (Wellcome Genome Campus (UK)) ;
Gao, Yan (The Children's Hospital of Philadelphia) ;
Garrison, Nanibaa' A. (University of California) ;
Giron, Carlos Garcia (Wellcome Genome Campus (UK)) ;
Green, Richard E. (Dovetail Genomics) ;
Haggerty, Leanne (Wellcome Genome Campus (UK)) ;
Hoekzema, Kendra (University of Washington School of Medicine) ;
Hourlier, Thibaut (Wellcome Genome Campus (UK)) ;
Ji, Hanlee P. (Stanford University School of Medicine) ;
Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ;
Koenig, Barbara A. (University of California) ;
Kolesnikov, Alexey (Google (USA)) ;
Korbel, Jan O. (European Molecular Biology Laboratory) ;
Kordosky, Jennifer (University of Washington School of Medicine) ;
Koren, Sergey (National Institutes of Health (USA)) ;
Lee, HoJoon (Stanford University School of Medicine) ;
Lewis, Alexandra P. (University of Washington School of Medicine) ;
Magalhães, Hugo (Heinrich Heine University) ;
Marco-Sola, Santiago (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ;
Marijon, Pierre (Heinrich Heine University) ;
McCartney, Ann (National Institutes of Health (USA)) ;
McDaniel, Jennifer (National Institute of Standards and Technology (USA)) ;
Mountcastle, Jacquelyn (The Rockefeller University) ;
Nattestad, Maria (Google (USA)) ;
Nurk, Sergey (National Institutes of Health (USA)) ;
Olson, Nathan D. (National Institute of Standards and Technology (USA)) ;
Popejoy, Alice B. (University of California) ;
Puiu, Daniela (Johns Hopkins University) ;
Rautiainen, Mikko (National Institutes of Health (USA)) ;
Regier, Allison A. (Washington University School of Medicine) ;
Rhie, Arang (National Institutes of Health (USA)) ;
Sacco, Samuel (University of California) ;
Sanders, Ashley D. (Max Delbrück Center for Molecular Medicine in the Helmholtz Association) ;
Schneider, Valerie A. (National Institutes of Health (USA)) ;
Schultz, Baergen I. (National Institutes of Health (USA)) ;
Shafin, Kishwar (Google (USA)) ;
Smith, Michael W. (National Institutes of Health (USA)) ;
Sofia, Heidi J. (National Institutes of Health (USA)) ;
Abou Tayoun, Ahmad N. (Mohammed Bin Rashid University of Medicine and Health Sciences) ;
Thibaud-Nissen, Françoise (National Institutes of Health (USA)) ;
Tricomi, Francesca Floriana (Wellcome Genome Campus (UK)) ;
Wagner, Justin (National Institute of Standards and Technology (USA)) ;
Walenz, Brian (National Institutes of Health (USA)) ;
Wood, Jonathan M. D. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Zimin, Aleksey V. (Johns Hopkins University) ;
Bourque, Guillaume (Kyoto University) ;
Chaisson, Mark (University of Southern California) ;
Flicek, Paul (Wellcome Genome Campus (UK)) ;
Phillippy, Adam M. (National Institutes of Health (USA)) ;
Zook, Justin M. (National Institute of Standards and Technology (USA)) ;
Eichler, Evan E. (Howard Hughes Medical Institute) ;
Haussler, David (Howard Hughes Medical Institute) ;
Wang, Ting (Washington University School of Medicine) ;
Jarvis, Erich (The Rockefeller University) ;
Miga, Karen H. (University of California) ;
Garrison, Erik (University of Tennessee Health Science Center) ;
Marschall, Tobias (Heinrich Heine University) ;
Hall, Ira M. (Yale University School of Medicine) ;
Li, Heng (Harvard Medical School) ;
Paten, Benedict (University of California)
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. [...]
2023 - 10.1038/s41586-023-05896-x
Nature, Vol. 617 (May 2023) , p. 312-324
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10.
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21 p, 11.5 MB |
Identification of constrained sequence elements across 239 primate genomes
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Kuderna, Lukas F. K. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Ulirsch, Jacob C. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Rashid, Sabrina (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Ameen, Mohamed (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Sundaram, Laksshman (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Hickey, Glenn (University of California. Santa Cruz Genomics Institute) ;
Cox, Anthony J. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Gao, Hong (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Kumar, Arvind (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Aguet, Francois (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
Christmas, Matthew J. (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Clawson, Hiram (University of California. Santa Cruz Genomics Institute) ;
Haeussler, Maximilian (University of California. Santa Cruz Genomics Institu) ;
Janiak, Mareike C. (University of Salford. School of Science, Engineering and Environment) ;
Kuhlwilm, Martin (University of Vienna. Department of Evolutionary Anthropology) ;
Orkin, Joseph D. (Université de Montréal. Département d'Anthropologie) ;
Bataillon, Thomas (Aarhus University. Bioinformatics Research Centre) ;
Shivakumara Manu (Academy of Scientific and Innovative Research (Ghaziabad, Índia)) ;
Valenzuela, Alejandro (Institut de Biologia Evolutiva (Barcelona)) ;
Bergman, Juraj (Aarhus University. Bioinformatics Research Centre) ;
Rouselle, Marjolaine (Aarhus University. Bioinformatics Research Centre) ;
Silva, Felipe Ennes (Mamirauá Institute for Sustainable Development) ;
Agueda Calpena, Lidia (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Blanc, Julie (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Gut, Marta (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
de Vries, Dorien (University of Salford. School of Science, Engineering and Environment) ;
Goodhead, Ian (University of Salford. School of Science, Engineering and Environment) ;
Harris, R. Alan (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Raveendran, Muthuswamy (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Jensen, Axel (Uppsala University. Department of Ecology and Genetics) ;
Chuma, Idriss S. (Tanzania National Parks) ;
Horvath, Julie E. (University of North Carolina at Chapel Hill. Renaissance Computing Institute) ;
Hvilsom, Christina (Copenhagen Zoo) ;
Juan, David (Institut de Biologia Evolutiva (Barcelona)) ;
Frandsen, Peter (Copenhagen Zoo) ;
Schraiber, Joshua G. (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units)) ;
de Melo, Fabiano R. (Universidade Federal de Viçosa) ;
Bertuol, Fabrício (Universidade Federal do Amazonas. Departamento de Genética) ;
Byrne, Hazel (University of Utah. Department of Anthropology) ;
Sampaio, Iracilda (Universidade Federal do Pará (Brasil)) ;
Pires Farias, Izeni (Universidade Federal do Amazonas. Departamento de Genética) ;
Valsecchi, João (Comunidad de Manejo de Fauna Silvestre en la Amazonía y en Latinoamérica-ComFauna) ;
Messias, Malu (Universidade Federal de Rondônia) ;
da Silva, Maria N. F. (Instituto Nacional de Pesquisas da Amazônia) ;
Trivedi, Mihir (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ;
Rossi, Rogerio (Universidade Federal do Mato Grosso. Instituto de Biociências) ;
Hrbek, Tomas (Trinity University. Department of Biology) ;
Andriaholinirina, Nicole (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Rabarivola, Clément J. (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Zaramody, Alphonse (University of Mahajanga. Faculty of Science, Technology and Environment) ;
Jolly, Clifford J. (New York University .Department of Anthropology) ;
Phillips-Conroy, Jane (Washington University School of Medicine in St Louis. Department of Neuroscience) ;
Wilkerson, Gregory (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Abbee, C. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Simmons, Joe H. (MD Anderson Cancer Center. Keeling Center for Comparative Medicine and Research) ;
Fernandez-Duque, Eduardo (Yale University. Department of Anthropology) ;
Kanthaswamy, Sree (University of California. California National Primate Research Center) ;
Shiferaw, Fekadu (The Carter Center Ethiopia) ;
Wu, Dong-Dong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ;
Zhou, Long (Zhejiang University School of Medicine. Center for Evolutionary and Organismal Biology) ;
Shao, Yong (Chinese Academy of Sciences. Kunming Institute of Zoology. State Key Laboratory of Genetic Resources and Evolution) ;
Zhang, Guojie (Zhejiang University Medical Center) ;
Keyyu, Julius D. (Tanzania Wildlife Research Institute) ;
Knauf, Sascha (Justus Liebig University. Faculty of Veterinary Medicine) ;
Le, Minh D. (Vietnam National University. Department of Environmental Ecology) ;
Lizano, Esther (Institut Català de Paleontologia Miquel Crusafont) ;
Merker, Stefan epartment of Environmental Ecology (State Museum of Natural History Stuttgart. Department of Zoology) ;
Navarro, Arcadi, 1969- (Institut de Biologia Evolutiva (Barcelona)) ;
Nadler, Tilo (Cuc Phuong Commune) ;
Khor, Chiea Chuen (Genome Institute of Singapore) ;
Lee, Jessica (Mandai Nature) ;
Tan, Patrick (Duke-NUS Medical School) ;
Lim, Weng Khong (SingHealth Duke-NUS Genomic Medicine Centre) ;
Kitchener, Andrew C. (School of Geosciences) ;
Zinner, Dietmar (Leibniz ScienceCampus Primate Cognition) ;
Gut, Ivo (Centre Nacional d'Anàlisi Genòmica (CNAG)) ;
Melin, Amanda D. (University of Calgary. Alberta Children's Hospital Research Institute) ;
Guschanski, Katerina (University of Edinburgh. School of Biological Sciences) ;
Schierup, Mikkel Heide (Aarhus University. Bioinformatics Research Centre) ;
Beck, Robin (University of Salford. School of Science, Engineering and Environment) ;
Karakikes, Ioannis (Stanford University. Department of Cardiothoracic Surgery) ;
Wang, Kevin C. (Veterans Affairs Palo Alto Healthcare System) ;
Umapathy, Govindhaswamy (Centre for Cellular and Molecular Biology (Hyderabad, Índia)) ;
Roos, Christian (Leibniz Institute for Primate Research. German Primate Center) ;
Boubli, Jean (University of Salford. School of Science, Engineering and Environment) ;
Siepel, Adam (Simons Center for Quantitative Biology. Cold Spring Harbor Laboratory) ;
Kundaje, Anshul (Stanford University. Department of Genetics) ;
Paten, Benedict (University of California. Santa Cruz Genomics Institute) ;
Lindblad-Toh, Kerstin (Uppsala University. Department of Medical Biochemistry and Microbiology) ;
Rogers, Jeffrey (Baylor College of Medicine. Department of Molecular and Human Genetics) ;
Marques-Bonet, Tomas 1975- (Institut Català de Paleontologia Miquel Crusafont) ;
Farh, Kyle Kai-How (Illumina. Co. Illumina Artificial Intelligence Laboratory (San Diego, Estats Units))
Noncoding DNA is central to our understanding of human gene regulation and complex diseases and measuring the evolutionary sequence constraint can establish the functional relevance of putative regulatory elements in the human genome. [...]
2023 - 10.1038/s41586-023-06798-8
Nature, Published online nov. 2023
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11.
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22 p, 3.0 MB |
Genomic Validation of Endometrial Cancer Patient-Derived Xenograft Models as a Preclinical Tool
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Villafranca-Magdalena, Beatriz (Universitat Autònoma de Barcelona) ;
Masferrer-Ferragutcasas, Carina (Universitat Autònoma de Barcelona) ;
López-Gil, Carlos (Universitat Autònoma de Barcelona) ;
Coll de la Rubia, Eva (Universitat Autònoma de Barcelona) ;
Rebull, Marta (Universitat Autònoma de Barcelona) ;
Parra, Genis (Centre de Regulació Genòmica) ;
García, Ángel (Hospital Universitari Vall d'Hebron) ;
Reques, Armando (Hospital Universitari Vall d'Hebron) ;
Cabrera Díaz, Silvia (Vall d'Hebron Institut d'Oncologia) ;
Colás Ortega, Eva (Universitat Autònoma de Barcelona) ;
Gil-Moreno, Antonio 1965- (Vall d'Hebron Institut d'Oncologia) ;
Moiola, Cristian Pablo (Universitat Autònoma de Barcelona)
Endometrial cancer (EC) is the second most frequent gynecological cancer worldwide. Although improvements in EC classification have enabled an accurate establishment of disease prognosis, women with a high-risk or recurrent EC face a dramatic situation due to limited further treatment options. [...]
2022 - 10.3390/ijms23116266
International journal of molecular sciences, Vol. 23 (june 2022)
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12.
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9 p, 2.7 MB |
Genetic association study of childhood aggression across raters, instruments, and age
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Ip, Hill F. (Vrije Universiteit Amsterdam) ;
van der Laan, Camiel M. (Netherlands Institute for the Study of Crime and Law Enforcement) ;
Krapohl, Eva M. L. (King's College London) ;
Brikell, Isabell (Karolinska Institutet (Estocolm, Suècia)) ;
Sánchez-Mora, Cristina (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Nolte, Ilja M. (University of Groningen) ;
Pourcain, Beate St (Radboud University) ;
Bolhuis, Koen (Erasmus University Medical Center) ;
Palviainen, Teemu (University of Helsinki) ;
Zafarmand, Hadi (University of Amsterdam) ;
Colodro-Conde, Lucía (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Gordon, Scott D (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Zayats, Tetyana (Stanley Center for Psychiatric Research) ;
Aliev, Fazil (Karabuk University) ;
Jiang, Chang (University of Florida) ;
Wang, Carol A. (The University of Newcastle) ;
Saunders, Gretchen (University of Minnesota) ;
Karhunen, Ville (Imperial College London) ;
Hammerschlag, Anke R. (Amsterdam Public Health Research Institute) ;
Adkins, Daniel E. (University of Utah) ;
Border, Richard (University of Colorado Boulder) ;
Peterson, Roseann E. (Virginia Commonwealth University) ;
Prinz, Joseph A. (Duke University) ;
Thiering, Elisabeth (Ludwig-Maximilians-University of Munich) ;
Seppälä, Ilkka (Tampere University) ;
Vilor-Tejedor, Natàlia (Fundació Pasqual Maragall (FPM)) ;
Ahluwalia, Tarunveer Singh (Steno Diabetes Center Copenhagen) ;
Day, Felix R. (University of Cambridge School of Clinical Medicine) ;
Hottenga, Jouke Jan (Vrije Universiteit Amsterdam) ;
Allegrini, Andrea G. (King's College London) ;
Rimfeld, Kaili (King's College London) ;
Chen, Qi (Karolinska Institutet (Estocolm, Suècia)) ;
Lu, Yi (Karolinska Institutet (Estocolm, Suècia)) ;
Martin, Joanna (Cardiff University) ;
Soler Artigas, María (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Rovira, Paula (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Bosch, Rosa (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Español-Martín, Gemma (Hospital Universitari Vall d'Hebron) ;
Ramos-Quiroga, Josep Antoni (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Neumann, Alexander (Jewish General Hospital) ;
Ensink, Judith (De Bascule, Academic Centre for Child and Adolescent Psychiatry) ;
Grasby, Katrina (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Morosoli, José J. (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Tong, Xiaoran (University of Florida) ;
Marrington, Shelby (The University of Queensland) ;
Middeldorp, Christel (Children's Health Queensland Hospital) ;
Scott, James G. (Queensland Centre for Mental Health Research) ;
Vinkhuyzen, Anna (University of Queensland) ;
Shabalin, Andrey A. (University of Utah) ;
Corley, Robin (University of Colorado Boulder) ;
Evans, Luke M. (University of Colorado Boulder) ;
Sugden, Karen (Duke University) ;
Alemany, Sílvia (Centro de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Sass, Lærke (University of Copenhagen) ;
Vinding, Rebecca (University of Copenhagen) ;
Ruth, Kate (University of Exeter Medical School) ;
Tyrrell, Jess (University of Exeter Medical School) ;
Davies, Gareth E. (Avera Institute for Human Genetics) ;
Ehli, Erik A. (Avera Institute for Human Genetics) ;
Hagenbeek, Fiona A. (Vrije Universiteit Amsterdam) ;
De Zeeuw, Eveline (Vrije Universiteit Amsterdam) ;
Van Beijsterveldt, Toos C.E.M. (Vrije Universiteit Amsterdam) ;
Larsson, Henrik (Orebro University) ;
Snieder, Harold (University of Groningen) ;
Verhulst, Frank C. (Copenhagen University Hospital) ;
Amin, Najaf (Erasmus University Medical Center) ;
Whipp, Alyce M. (University of Helsinki) ;
Korhonen, Tellervo (University of Helsinki) ;
Vuoksimaa, Eero (University of Helsinki) ;
Rose, Richard J. (Indiana University) ;
Uitterlinden, André G. (Netherlands Genomics Initiative (NGI)) ;
Heath, Andrew C. (Washington University) ;
Madden, Pamela (Washington University) ;
Haavik, Jan (Haukeland University Hospital (Bergen, Noruega)) ;
Harris, Jennifer R. (The Norwegian Institute of Public Health) ;
Helgeland, Øyvind (The Norwegian Institute of Public Health) ;
Johansson, Stefan E (University of Bergen) ;
Knudsen, Gun Peggy S. (The Norwegian Institute of Public Health) ;
Njolstad, Pal Rasmus (University of Bergen) ;
Lu, Qing (University of Florida) ;
Rodriguez, Alina (University of Lincoln) ;
Henders, Anjali K. (University of Queensland) ;
Mamun, Abdullah (University of Queensland) ;
Najman, Jackob M. (The University of Queensland) ;
Brown, Sandy (University of California) ;
Hopfer, Christian (University of Colorado School of Medicine) ;
Krauter, Kenneth (University of Colorado Boulder) ;
Reynolds, Chandra (University of California Riverside) ;
Smolen, Andrew (University of Colorado Boulder) ;
Stallings, Michael (University of Colorado Boulder) ;
Wadsworth, Sally (University of Colorado Boulder) ;
Wall, Tamara L. (University of California) ;
Silberg, Judy L. (Virginia Commonwealth University) ;
Miller, Allison (University of Otago Christchurch) ;
Keltikangas-Järvinen, Liisa (University of Helsinki) ;
Hakulinen, Christian (University of Helsinki) ;
Pulkki-Råback, Laura (University of Helsinki) ;
Havdahl, Alexandra (Norwegian Institute of Public Health) ;
Magnus, Per (Norwegian Institute of Public Health) ;
Raitakari, Olli T. (Turku University Hospital) ;
Perry, John R. B. (University of Cambridge School of Clinical Medicine) ;
Llop, Sabrina (Consorcio de Investigación Biomédica en Red de Epidemiología y Salud Pública) ;
Lopez-Espinosa, Maria-Jose (Universitat de València) ;
Bønnelykke, Klaus (University of Copenhagen) ;
Bisgaard, Hans (University of Copenhagen) ;
Sunyer, J. (Institut Hospital del Mar d'Investigacions Mèdiques) ;
Lehtimäki, Terho (Tampere University) ;
Arseneault, Louise (Duke University School of Medicine) ;
Standl, Marie (Helmholtz Zentrum München) ;
Heinrich, Joachim (University of Melbourne) ;
Boden, Joseph (University of Otago Christchurch) ;
Pearson, John (University of Otago Christchurch) ;
Horwood, L. John (University of Otago Christchurch) ;
Kennedy, Martin (University of Otago Christchurch) ;
Poulton, Richie (University of Otago) ;
Eaves, Lindon J. (Virginia Institute for Psychiatric and Behavioral Genetics) ;
Maes, Hermine H. (Virginia Commonwealth University) ;
Hewitt, John (University of Colorado Boulder) ;
Copeland, William E. (University of Vermont) ;
Costello, Elizabeth J. (Duke University) ;
Williams, Gail M. (The University of Queensland) ;
Wray, Naomi R (University of Queensland) ;
Järvelin, Marjo-Riitta (University of Oulu) ;
McGue, Matt (University of Minnesota) ;
Iacono, William (University of Minnesota) ;
Caspi, Avshalom (King's College London) ;
Moffitt, Terrie E. (King's College London) ;
Whitehouse, Andrew (The University of Western Australia) ;
Pennell, Craig E. (The University of Newcastle) ;
Klump, Kelly L. (Michigan State University) ;
Burt, S. Alexandra (Michigan State University) ;
Dick, Danielle M. (Virginia Commonwealth University) ;
Reichborn-Kjennerud, Ted (University of Oslo) ;
Martin, Nicholas G (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Medland, Sarah Elizabeth (QIMR Berghofer Medical Research Institute (Brisbane, Austràlia)) ;
Vrijkotte, Tanja (University of Amsterdam) ;
Kaprio, Jaakko (University of Helsinki) ;
Tiemeier, Henning (Harvard TH Chan School of Public Health) ;
Smith, George Davey (University of Bristol) ;
Hartman, Catharina A. (University of Groningen) ;
Oldehinkel, Albertine J (University of Groningen) ;
Casas Brugué, Miquel (Universitat Autònoma de Barcelona. Departament de Psiquiatria i de Medicina Legal) ;
Ribasés Haro, Marta (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Lichtenstein, Paul (Karolinska Institutet (Estocolm, Suècia)) ;
Lundström, Sebastian (University of Gothenburg) ;
Plomin, Robert (King's College London) ;
Bartels, Meike (Amsterdam Public Health Research Institute) ;
Nivard, Michel G. (Vrije Universiteit Amsterdam) ;
Boomsma, Dorret I (Amsterdam Public Health Research Institute)
Childhood aggressive behavior (AGG) has a substantial heritability of around 50%. Here we present a genome-wide association meta-analysis (GWAMA) of childhood AGG, in which all phenotype measures across childhood ages from multiple assessors were included. [...]
2021 - 10.1038/s41398-021-01480-x
Translational psychiatry, Vol. 11 (july 2021)
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13.
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17 p, 6.1 MB |
Comparative Genomic Analyses of Virulence and Antimicrobial Resistance in Citrobacter werkmanii, an Emerging Opportunistic Pathogen
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Aguirre Sánchez, José Roberto (Centro de Investigación en Alimentación y Desarrollo (CIAD)) ;
Quiñones, Beatriz (U.S. Department of Agriculture) ;
Ortiz-Muñoz, José A. (Universidad Autónoma de Sinaloa (Mèxic)) ;
Prieto-Alvarado, Rogelio (Universidad Autónoma de Sinaloa (Mèxic)) ;
Vega-López, Inés F. (Universidad Autónoma de Sinaloa (Mèxic)) ;
Martinez-Urtaza, Jaime (Universitat Autònoma de Barcelona. Departament de Genètica i de Microbiologia) ;
Lee, Bertram G. (U.S. Department of Agriculture) ;
Chaidez, Cristóbal (Centro de Investigación en Alimentación y Desarrollo A.C. (CIAD))
Citrobacter werkmanii is an emerging and opportunistic human pathogen found in developing countries and is a causative agent of wound, urinary tract, and blood infections. The present study conducted comparative genomic analyses of a C. [...]
2023 - 10.3390/microorganisms11082114
Microorganisms, Vol. 11, Num. 8 (August 2023) , art. 2114
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14.
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14 p, 3.9 MB |
Copy-number intratumor heterogeneity increases the risk of relapse in chemotherapy-naive stage colon cancer
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Lahoz, Sara (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Archilla, Ivan (Universitat de Barcelona) ;
Asensio, Elena (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Hernández-Illán, Eva (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Ferrer Menduiña, Queralt (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
López-Prades, Sandra (Universitat de Barcelona) ;
Nadeu, Ferran (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Del Rey Azpiri, Javier (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia) ;
Sanz-Pamplona, Rebeca (Institut d'Investigació Biomèdica de Bellvitge) ;
Lozano, Juan José (Centro de Investigación Biomédica en Red de Enfermedades Hepáticas y Digestivas) ;
Castells, Antoni (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Cuatrecasas, Miriam (Universitat de Barcelona) ;
Camps, Jordi (Universitat Autònoma de Barcelona. Departament de Biologia Cel·lular, de Fisiologia i d'Immunologia)
Optimal selection of high-risk patients with stage II colon cancer is crucial to ensure clinical benefit of adjuvant chemotherapy. Here, we investigated the prognostic value of genomic intratumor heterogeneity and aneuploidy for disease recurrence. [...]
2022 - 10.1002/path.5870
The Journal of Pathology, Vol. 257, Num. 1 (April 2022) , p. 68-81
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15.
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18 p, 4.7 MB |
Diverse monogenic subforms of human spermatogenic failure
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Nagirnaja, Liina (Oregon Health & Science University) ;
Lopes, Alexandra M. (IPATIMUP - Instituto de Patologia e Imunologia Molecular da Universidade do Porto) ;
Charng, Wu-Lin (Washington University) ;
Miller, Brian (Oregon Health & Science University) ;
Stakaitis, Rytis (Lithuanian University of Health Sciences) ;
Golubickaite, Ieva (Lithuanian University of Health Sciences) ;
Stendahl, Alexandra (Oregon Health & Science University) ;
Luan, Tianpengcheng (The University of Melbourne) ;
Friedrich, Corinna (University of Münster) ;
Mahyari, Eisa (Oregon Health & Science University) ;
Fadial, Eloise (Oregon Health & Science University) ;
Kasak, Laura (University of Tartu) ;
Vigh-Conrad, Katinka (Oregon Health & Science University) ;
Oud, Manon S. (Radboud University Medical Centre) ;
Xavier, Miguel (Newcastle University) ;
Cheers, Samuel R. (The University of Melbourne) ;
James, Emma R. (University of Utah School of Medicine) ;
Guo, Jingtao (University of Utah School of Medicine) ;
Jenkins, Timothy G. (University of Utah School of Medicine) ;
Riera-Escamilla, Antoni (Institut d'Investigació Biomèdica Sant Pau) ;
Barros, Alberto (Faculdade de Medicina da Universidade do Porto) ;
Carvalho, Filipa (Faculdade de Medicina da Universidade do Porto) ;
Fernandes, Susana (Faculdade de Medicina da Universidade do Porto) ;
Gonçalves, João (Nova Medical School) ;
Gurnett, Christina A. (Washington University.) ;
Jørgensen, Niels (Copenhagen University Hospital - Rigshospitalet) ;
Jezek, Davor (University of Zagreb School of Medicine) ;
Jungheim, Emily S. (Division of Reproductive Endocrinology) ;
Kliesch, Sabine (University Hospital of Münster (Alemanya)) ;
McLachlan, Robert I. (Monash University) ;
Omurtag, Kenan R. (Division of Reproductive Endocrinology) ;
Pilatz, Adrian (Justus Liebig University) ;
Sandlow, Jay I. (Medical College of Wisconsin) ;
Smith, James (University California San Francisco) ;
Eisenberg, Michael L. (Stanford University School of Medicine) ;
Hotaling, James M. (University of Utah School of Medicine) ;
Jarvi, Keith A. (University of Toronto) ;
Punab, Margus (University of Tartu) ;
Rajpert-De Meyts, Ewa (Copenhagen University Hospital - Rigshospitalet) ;
Carrell, Douglas T. (University of Utah School of Medicine) ;
Krausz, Csilla (University of Florence) ;
Laan, Maris (University of Tartu) ;
O'Bryan, Moira Kathleen (Monash University) ;
Schlegel, Peter N. (Weill Cornell Medicine) ;
Tüttelmann, Frank (University of Münster) ;
Veltman, Joris A. (Newcastle University) ;
Almstrup, Kristian (Copenhagen University Hospital - Rigshospitalet) ;
Aston, Kenneth I. (University of Utah School of Medicine) ;
Conrad, Donald F. (Oregon Health & Science University) ;
Universitat Autònoma de Barcelona
Non-obstructive azoospermia (NOA) is the most severe form of male infertility and typically incurable. Defining the genetic basis of NOA has proven challenging, and the most advanced classification of NOA subforms is not based on genetics, but simple description of testis histology. [...]
2022 - 10.1038/s41467-022-35661-z
Nature communications, Vol. 13 (december 2022)
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16.
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2 p, 2.0 MB |
Author Correction : Common variants in Alzheimer's disease and risk stratification by polygenic risk scores
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De Rojas, Itziar (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Moreno-Grau, Sonia (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Tesi, Niccolo (Delft Univeristy of Technology) ;
Grenier-Boley, Benjamin (Institut Pasteur de Lille) ;
Andrade, Victor (University Clinic Bonn) ;
Jansen, Iris E. (VU University) ;
Pedersen, Nancy L. (Karolinska Institutet (Estocolm, Suècia)) ;
Stringa, Najada (Amsterdam Public Health Research Institute) ;
Zettergren, Anna (University of Gothenburg) ;
Hernández, Isabel (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Montrreal, Laura (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Antúnez, Carmen (Hospital Clínico Universitario Virgen de la Arrixaca (El Palmar, Múrcia)) ;
Antonell, Anna (Hospital Clínic i Provincial de Barcelona) ;
Tankard, Rick M. (Murdoch University) ;
Bis, Joshua C (University of Washington) ;
Sims, Rebecca (Cardiff University) ;
Bellenguez, Céline (Institut Pasteur de Lille) ;
Quintela, Inés (Universidade de Santiago de Compostela) ;
González-Perez, Antonio (Centro Andaluz de Estudios Bioinformáticos) ;
Calero, Miguel (Fundación Reina Sofía) ;
Franco-Macías, Emilio (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Macías, Juan (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Cervera Carles, Laura (Institut d'Investigació Biomèdica Sant Pau) ;
Mendez-Gonzalez, Manuel (Universidad de Oviedo) ;
Frank-García, Ana (Universidad Autónoma de Madrid) ;
Royo, Jose Luís (Universidad de Málaga) ;
Moreno, Fermin (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Huerto Vilas, Raquel (Institut de Recerca Biomedica de Lleida (IRBLLeida)) ;
Baquero, Miquel (Hospital Universitari i Politècnic La Fe (València)) ;
Diez-Fairen, Monica (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Lage, Carmen (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
García-Madrona, Sebastián (Hospital Universitario Ramón y Cajal (Madrid)) ;
García-González, Pablo (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Alarcón-Martín, Emilio (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Valero, Sergi (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Sotolongo Grau, Oscar (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Ullgren, Abbe (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Naj, Adam C. (University of Pennsylvania Perelman School of Medicine) ;
Lemstra, Afina W. (Vrije Universiteit Amsterdam) ;
Benaque, Alba (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Pérez-Cordón, Alba (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Benussi, Alberto (University of Brescia) ;
Rábano, Alberto (BT-CIEN) ;
Padovani, Alessandro (University of Brescia) ;
Squassina, Alessio (University of Cagliari) ;
de Mendonça, Alexandre (University of Lisbon) ;
Arias Pastor, Alfonso (Institut de Recerca Biomedica de Lleida (IRBLLeida)) ;
Kok, Almar A. L. (Amsterdam Public Health Research Institute) ;
Meggy, Alun (Cardiff University) ;
Pastor, Ana Belén (BT-CIEN) ;
Espinosa, Ana (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Corma-Gómez, Anaïs (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Martín Montes, Angel (Hospital Universitario La Paz (Madrid)) ;
Sanabria, Ángela (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
DeStefano, Anita L. (Boston University School of Public Health) ;
Schneider, Anja (German Center for Neurodegenerative Diseases (DZNE)) ;
Haapasalo, Annakaisa (University of Eastern Finland) ;
Kinhult Ståhlbom, Anne (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Tybjærg-Hansen, Anne (University of Copenhagen) ;
Hartmann, Annette M. (Martin-Luther-University Halle-Wittenberg) ;
Spottke, Annika (University of Bonn) ;
Corbatón-Anchuelo, Arturo (Hospital Clínico San Carlos (Madrid)) ;
Rongve, Arvid (University of Bergen) ;
Borroni, Barbara (University of Brescia) ;
Arosio, Beatrice (IRCCS Ospedale Maggiore Policlinico) ;
Nacmias, Benedetta (IRCCS Fondazione Don Carlo Gnocchi) ;
Nordestgaard, Børge G. (Herlev Gentofte Hospital) ;
Kunkle, Brian W. (University of Miami Miller School of Medicine) ;
Charbonnier, Camille (Normandie Univ) ;
Abdelnour, Carla (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Masullo, Carlo (Catholic University of the Sacred Heart) ;
Martínez Rodríguez, Carmen (Hospital Universitario de Cabueñes (Gijón)) ;
Muñoz-Fernandez, Carmen (Hospital Universitario de Gran Canaria Dr.Negrín) ;
Dufouil, Carole (CHU de Bordeaux) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Ferreira, Catarina B. (Universidade de Lisboa) ;
Chillotti, Caterina (University Hospital of Cagliari) ;
Reynolds, Chandra A. (University of California-Riverside) ;
Fenoglio, Chiara (University of Milan) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Clark, Christopher (University of Zürich) ;
Pisanu, Claudia (University of Cagliari) ;
Satizabal, Claudia L. (UT Health San Antonio) ;
Holmes, Clive (University of Southampton) ;
Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ;
Aarsland, Dag (Stavanger University Hospital) ;
Rujescu, Dan (Martin-Luther-University Halle-Wittenberg) ;
Alcolea, Daniel (Institut d'Investigació Biomèdica Sant Pau) ;
Galimberti, Daniela (Ospedale Policlinico) ;
Wallon, David (Normandie Univ) ;
Seripa, Davide (Complex Structure of Geriatrics) ;
Grünblatt, Edna (University of Zurich) ;
Dardiotis, Efthimios (University of Thessaly) ;
Düzel, Emrah (Otto-von-Guericke University) ;
Scarpini, Elio (Ospedale Policlinico, Milan, Italy) ;
Conti, Elisa (University of Milano-Bicocca and Milan Center for Neuroscience) ;
Rubino, Elisa (AOU Città della Salute e della Scienza di Torino) ;
Gelpi, Ellen (Medical University of Vienna) ;
Rodríguez-Rodríguez, Eloy (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Duron, Emmanuelle (Hôpital Broca) ;
Boerwinkle, Eric (Baylor College of Medicine) ;
Ferri, Evelyn (IRCCS Ospedale Maggiore Policlinico) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Küçükali, Fahri (University of Antwerp) ;
Pasquier, Florence (CHU CNR-MAJ) ;
Sanchez-Garcia, Florentino (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Mangialasche, Francesca (Karolinska Institutet (Estocolm, Suècia)) ;
Jessen, Frank (University of Cologne) ;
Nicolas, Gaël (Hospital Universitario de Cabueñes (Gijón)) ;
Selbæk, Geir (University of Oslo) ;
Ortega, Gemma (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Chêne, Geneviève (CHU de Bordeaux) ;
Hadjigeorgiou, Georgios (University of Cyprus) ;
Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Spalletta, Gianfranco (Baylor College of Medicine) ;
Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Grande, Giulia (Karolinska Institutet and Stockholm University) ;
Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Papenberg, Goran (Karolinska Institutet and Stockholm University) ;
Hampel, Harald (Sorbonne University) ;
Bailly, Henri (Université Paris Descartes) ;
Zetterberg, Henrik (UCL Institute of Neurology (Regne Unit)) ;
Soininen, Hilkka (Kuopio University Hospital ( Finlàndia)) ;
Karlsson, Ida K. (Jönköping University) ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Appollonio, Ildebrando (Ospedale San Gerardo (Itàlia)) ;
Giegling, Ina (Martin-Luther-University Halle-Wittenberg) ;
Skoog, Ingmar (University of Gothenburg) ;
Saltvedt, Ingvild (Norwegian University of Science and Technhology) ;
Rainero, Innocenzo (University of Torino) ;
Rosas Allende, Irene (Hospital Universitario Central de Asturias) ;
Hort, Jakub (St. Anne's University Hospital Brno) ;
Diehl-Schmid, Janine (Technical University of Munich) ;
Van Dongen, Jasper (Institute Born-Bunge) ;
Vidal, Jean-Sébastien (Université Paris Descartes) ;
Lehtisalo, Jenni (Finnish Institute for Health and Welfare) ;
Wiltfang, Jens (University of Aveiro) ;
Thomassen, Jesper Qvist (Copenhagen University Hospital Rigshospitalet) ;
Kornhuber, Johannes (Friedrich-Alexander Universität Erlangen-Nürnberg) ;
Haines, Jonathan L. (Case Western Reserve University) ;
Vogelgsang, Jonathan (Harvard Medical School) ;
Pineda, Juan A. (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Fortea, Juan (Institut d'Investigació Biomèdica Sant Pau) ;
Popp, Julius (Lausanne University Hospital) ;
Deckert, Jürgen (University Hospital) ;
Buerger, Katharina (German Center for Neurodegenerative Diseases) ;
Morgan, Kevin (University of Nottingham) ;
Fließbach, Klaus (University Clinic Bonn) ;
Sleegers, Kristel (University of Antwerp) ;
Molina-Porcel, Laura (Hospital Clínic i Provincial de Barcelona) ;
Kilander, Lena (Uppsala) ;
Weinhold, Leonie (University Hospital of Bonn) ;
Farrer, Lindsay A. (Boston University Schools of Medicine and Public Health) ;
Wang, Li-San (University of Pennsylvania Perelman School of Medicine) ;
Kleineidam, Luca (University Clinic Bonn) ;
Farotti, Lucia (University of Perugia) ;
Parnetti, Lucilla (University of Perugia) ;
Tremolizzo, Lucio (Ospedale San Gerardo (Itàlia)) ;
Hausner, Lucrezia (University of Heidelberg) ;
Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Froelich, Lutz (University of Heidelberg) ;
Ikram, M. Arfan (Erasmus Medical Center) ;
Deniz-Naranjo, M. Candida (Hospital Universitario de Gran Canaria Dr. Negrín) ;
Tsolaki, Magda (1st Department of Neurology Aristotle University of Thessaloniki) ;
Rosende-Roca, Maitée (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Löwenmark, Malin (Uppsala) ;
Hulsman, Marc (Vrije Universiteit Amsterdam) ;
Spallazzi, Marco (Azienda Ospedaliero-Universitaria) ;
Pericak-Vance, Margaret A (University of Miami Miller School of Medicine) ;
Esiri, Margaret (Nuffield Department of Clinical Neurosciences) ;
Bernal Sánchez-Arjona, María (Hospital Universitario Virgen del Rocío (Sevilla, Andalusia)) ;
Dalmasso, Maria Carolina (University of Cologne) ;
Martínez-Larrad, María Teresa (Hospital Clínico San Carlos (Madrid)) ;
Arcaro, Marina (Ospedale Policlinico) ;
Nöthen, Markus M. (University of Bonn) ;
Fernández-Fuertes, Marta (Hospital Universitario Virgen de Valme (Sevilla, Andalusia)) ;
Dichgans, Martin (Munich Cluster for Systems Neurology (SyNergy)) ;
Ingelsson, Martin (Uppsala) ;
Herrmann, Martin J. (University Hospital) ;
Scherer, Martin (University Medical Centre Hamburg-Eppendorf) ;
Vyhnalek, Martin (St. Anne's University Hospital Brno) ;
Kosmidis, Mary H. (Aristotle University of Thessaloniki) ;
Yannakoulia, Mary (Harokopio University) ;
Schmid, Matthias (University Hospital of Bonn) ;
Ewers, Michael (German Center for Neurodegenerative Diseases (DZNE)) ;
Heneka, Michael T. (German Center for Neurodegenerative Diseases (DZNE)) ;
Wagner, Michael (German Center for Neurodegenerative Diseases (DZNE)) ;
Scamosci, Michela (University of Perugia) ;
Kivipelto, Miia (Stockholms Sjukhem) ;
Hiltunen, Mikko (University of Eastern Finland) ;
Zulaica, Miren (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Alegret, Montserrat (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Fornage, Myriam (University of Texas Health Sciences Center at Houston) ;
Roberto, Natalia (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
van Schoor, Natasja M. (Amsterdam Public Health Research Institute) ;
Seidu, Nazib M. (University of Gothenburg) ;
Banaj, Nerisa (IRCCS Santa Lucia Foundation) ;
Armstrong, Nicola (Murdoch University) ;
Scarmeas, Nikolaos (Columbia University) ;
Scherbaum, Norbert (University of Duisburg-Essen) ;
Goldhardt, Oliver (Technical University of Munich) ;
Hanon, Olivier (Université Paris Descartes) ;
Peters, Oliver (German Center for Neurodegenerative Diseases) ;
Skrobot, Olivia Anna (Southmead Hospital) ;
Quenez, Olivier (Normandie Univ) ;
Lerch, Ondrej (St. Anne's University Hospital Brno) ;
Bossù, Paola (IRCCS Santa Lucia Foundation) ;
Caffarra, Paolo (University of Parma) ;
Dionigi Rossi, Paolo (IRCCS Ospedale Maggiore Policlinico) ;
Sakka, Paraskevi (Athens Association of Alzheimer's disease and Related Disorders) ;
Mecocci, Patrizia (University of Perugia) ;
Hoffmann, Per (University Hospital Basel (Basilea, Suïssa)) ;
Holmans, Peter (Cardiff University) ;
Fischer, Peter (Social Medicine Center East- Donauspital) ;
Riederer, Peter (University Hospital of Würzburg) ;
Yang, Qiong (Boston University School of Public Health) ;
Marshall, Rachel (Cardiff University) ;
Kalaria, Rajesh N. (Campus for Ageing anf Vitality) ;
Mayeux, Richard (Columbia University) ;
Vandenberghe, Rik (University Hospitals Leuven (Bèlgica)) ;
Cecchetti, Roberta (University of Perugia) ;
Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Frikke-Schmidt, Ruth (University of Copenhagen) ;
Sorbi, Sandro (IRCCS Fondazione Don Carlo Gnocchi) ;
Hägg, Sara (Karolinska Institutet (Estocolm, Suècia)) ;
Engelborghs, Sebastiaan (VUB University Hospital Brussels) ;
Helisalmi, Seppo (University of Eastern Finland) ;
Botne Sando, Sigrid (Norwegian University of Science and Technology) ;
Kern, Silke (University of Gothenburg) ;
Archetti, Silvana (Brescia Hospital) ;
Boschi, Silvia (University of Torino) ;
Fostinelli, Silvia (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Gil, Silvia (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Mendoza, Silvia (Instituto Andaluz de Neurociencia) ;
Mead, Simon (University College London. Institute of Prion Diseases) ;
Ciccone, Simona (IRCCS Ospedale Maggiore Policlinico) ;
Djurovic, Srdjan (University of Bergen) ;
Heilmann-Heimbach, Stefanie (School of Medicine & University Hospital Bonn) ;
Riedel-Heller, Steffi (University of Leipzig) ;
Kuulasmaa, Teemu (University of Eastern Finland) ;
del Ser, Teodoro (Fundación Reina Sofía) ;
Lebouvier, Thibaud (CHU CNR-MAJ) ;
Polak, Thomas (University Hospital) ;
Ngandu, Tiia (Finnish Institute for Health and Welfare) ;
Grimmer, Timo (Technical University of Munich) ;
Bessi, Valentina (Azienda Ospedaliero-Universitaria Careggi Largo Brambilla) ;
Escott-Price, Valentina (Cardiff University) ;
Giedraitis, Vilmantas (Uppsala) ;
Deramecourt, Vincent (CHU CNR-MAJ) ;
Maier, Wolfgang (German Center for Neurodegenerative Diseases) ;
Jian, Xueqiu (Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ;
Pijnenburg, Yolande A. L. (Vrije Universiteit Amsterdam) ;
Kehoe, Patrick Gavin (University of Bristol) ;
García-Ribas, Guillermo (Hospital Universitario Ramón y Cajal (Madrid)) ;
Sánchez-Juan, Pascual (Hospital Universitario Marqués de Valdecilla (Santander, Cantabria)) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Pérez-Tur, Jordi (Instituto de Investigación Sanitaria La Fe) ;
Piñol-Ripoll, Gerard (Institut de Recerca Biomedica de Lleida (IRBLLeida)) ;
Lopez de Munain, Adolfo (Hospital de Donostia (Sant Sebastià, País Basc)) ;
García-Alberca, Jose María (Instituto Andaluz de Neurociencia) ;
Bullido, María J (Instituto de Investigación Sanitaria del Hospital Universitario La Paz) ;
Álvarez, Victoria (Hospital Universitario Central de Asturias) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Real, Luis M. (Universidad de Málaga) ;
Mir, Pablo (Instituto de Biomedicina de Sevilla) ;
Medina, Miguel (Fundación Reina Sofía) ;
Scheltens, Philip (Vrije Universiteit Amsterdam) ;
Holstege, Henne (Vrije Universiteit Amsterdam) ;
Marquié, Marta (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Sáez, María Eugenia (Centro Andaluz de Estudios Bioinformáticos) ;
Carracedo, Ángel (Fundación Pública Galega de Medicina Xenómica) ;
Amouyel, Philippe (Institut Pasteur de Lille) ;
Schellenberg, Gerard D. (University of Pennsylvania Perelman School of Medicine) ;
Williams, Julie (Cardiff University) ;
Seshadri, Sudha (Framingham Heart Study) ;
van Duijn, Cornelia M. (University of Oxford) ;
Mather, Karen A (Neuroscience Research Australia) ;
Sanchez-Valle, Raquel (Hospital Clínic i Provincial de Barcelona) ;
Serrano-Ríos, Manuel (Hospital Clínico San Carlos (Madrid)) ;
Orellana, Adelina (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Tárraga, Lluís (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
Blennow, Kaj (Sahlgrenska Academy at the University of Gothenburg) ;
Huisman, Martijn A (VU University) ;
Andreassen, Ole A. (Oslo University Hospital (Oslo, Noruega)) ;
Posthuma, Danielle (VU University) ;
Clarimón, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Boada, Mercè (Universitat Internacional de Catalunya. Institut Català de Neurociències Aplicades) ;
van der Flier, Wiesje M (Vrije Universiteit Amsterdam) ;
Ramirez, Alfredo (Glenn Biggs Institute for Alzheimer's and Neurodegenerative Diseases) ;
Lambert, Jean-Charles (Institut Pasteur de Lille) ;
van der Lee, Sven J. (Vrije Universiteit Amsterdam) ;
Ruiz, Agustín (National Institute of Health Carlos III) ;
Universitat Autònoma de Barcelona
Genetic discoveries of Alzheimer's disease are the drivers of our understanding, and together with polygenetic risk stratification can contribute towards planning of feasible and efficient preventive and curative clinical trials. [...]
2023 - 10.1038/s41467-023-36192-x
Nature communications, Vol. 14 (february 2023)
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14 p, 1.1 MB |
Systematic Collaborative Reanalysis of Genomic Data Improves Diagnostic Yield in Neurologic Rare Diseases
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Bullich Vilanova, Gemma (Centre de Regulació Genòmica) ;
Matalonga, Leslie (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ;
Pujadas, Montserrat (Universitat Pompeu Fabra) ;
Papakonstantinou, Anastasios (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ;
Piscia, Davide (Centro Nacional Análisis Genómico (CNAG)-Centre for Genomic Regulation (CRG). The Barcelona Institute of Science and Technology) ;
Tonda, Raúl (Centre de Regulació Genòmica) ;
Artuch, R (Centro de Investigación Biomédica en Red de Enfermedades Raras) ;
Gallano, Pia (Institut d'Investigació Biomèdica Sant Pau) ;
Garrabou, Glòria (CELLEX-Institut d'Investigació Biomèdica August Pi i Sunyer (IDIBAPS)) ;
González, Juan Ramón (Centro de Investigaciones Biomédicas en Red de Epidemiología y Salud Pública (CIBERESP). Instituto de Salud Carlos III) ;
Grinberg, Daniel (Institut de Recerca Sant Joan de Déu) ;
Guitart, Míriam (Parc Taulí Hospital Universitari. Institut d'Investigació i Innovació Parc Taulí (I3PT)) ;
Laurie, Steven (Centre de Regulació Genòmica) ;
Lázaro, Conxi (Centro de Investigación Biomédica en Red de Cáncer) ;
Luengo, Cristina (Centre de Regulació Genòmica) ;
Martí, Ramon A (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Milà, Montserrat (Institut d'Investigació Biomèdica August Pi I Sunyer (IDIBAPS)) ;
Ovelleiro, David (Centre de Regulació Genòmica) ;
Parra, Genís (Centre de Regulació Genòmica) ;
Pujol, Aurora 1968- (Institut d'Investigació Biomèdica de Bellvitge) ;
Tizzano, Eduardo (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Macaya Ruiz, Alfons (Hospital Universitari Vall d'Hebron. Institut de Recerca) ;
Palau, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Ribes, Antònia (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ;
Pérez-Jurado, Luis A. (Women's and Children's Hospital. South Australian Health and Medical Research Institute and The University of Adelaide) ;
Beltran i Agulló, Sergi (Universitat de Barcelona. Departament de Genètica, Microbiologia i Estadística) ;
Schlüter, Agatha (Centre nacional d'anàlisi genòmica) ;
Rodriguez-Palmero, Agustí (Centre nacional d'anàlisi genòmica) ;
Cáceres, Alejandro (Centre nacional d'anàlisi genòmica) ;
Nascimento, Andrés (Centre nacional d'anàlisi genòmica) ;
García-Cazorla, Àngels (Centre nacional d'anàlisi genòmica) ;
Cueto-González, Anna (Centre nacional d'anàlisi genòmica) ;
Marcé-Grau, Anna (Centre nacional d'anàlisi genòmica) ;
Ruiz Nel Lo, Anna (Centre nacional d'anàlisi genòmica) ;
Martínez-Monseny, Antonio (Centre nacional d'anàlisi genòmica) ;
Sànchez, Aurora (Centre nacional d'anàlisi genòmica) ;
García, Belén (Centre nacional d'anàlisi genòmica) ;
Pérez-Dueñas, Belén (Centre nacional d'anàlisi genòmica) ;
Gel, Bernat (Centre nacional d'anàlisi genòmica) ;
Fusté, Berta (Centre nacional d'anàlisi genòmica) ;
Hernández-Ferrer, Carles (Centre nacional d'anàlisi genòmica) ;
Casasnovas, Carlos (Centre nacional d'anàlisi genòmica) ;
Ortez González, Carlos Ignacio (Centre nacional d'anàlisi genòmica) ;
Arjona, César (Centre nacional d'anàlisi genòmica) ;
Hernando-Davalillo, Cristina (Centre nacional d'anàlisi genòmica) ;
Natera de Benito, Daniel (Centre nacional d'anàlisi genòmica) ;
Picó Amador, Daniel (Centre nacional d'anàlisi genòmica) ;
Gómez-Andrés, David (Centre nacional d'anàlisi genòmica) ;
Yubero, Délia (Centre nacional d'anàlisi genòmica) ;
Pelegrí-Sisó, Dolors (Centre nacional d'anàlisi genòmica) ;
Verdura, Edgard (Centre nacional d'anàlisi genòmica) ;
García-Arumí, Elena (Centre nacional d'anàlisi genòmica) ;
Castellanos, Elisabeth (Centre nacional d'anàlisi genòmica) ;
Gabau, Elisabeth (Centre nacional d'anàlisi genòmica) ;
Tobías, Ester (Centre nacional d'anàlisi genòmica) ;
López-Grondona, Fermina (Centre nacional d'anàlisi genòmica) ;
Cardellach, Francesc (Centre nacional d'anàlisi genòmica) ;
Garcia-Garcia, Francesc Josep (Centre nacional d'anàlisi genòmica) ;
Munell, Francina (Centre nacional d'anàlisi genòmica) ;
Tort, Frederic (Centre nacional d'anàlisi genòmica) ;
Aznar, Gemma (Centre nacional d'anàlisi genòmica) ;
Olivé-Cirera, Gemma (Centre nacional d'anàlisi genòmica) ;
Tell, Gemma (Centre nacional d'anàlisi genòmica) ;
Muñoz-Pujol, Gerard (Centre nacional d'anàlisi genòmica) ;
Paramonov, Ida (Centre nacional d'anàlisi genòmica) ;
Blanco Guillermo, Ignacio (Centre nacional d'anàlisi genòmica) ;
Madrigal, Irene (Centre nacional d'anàlisi genòmica) ;
Valenzuela, Irene (Centre nacional d'anàlisi genòmica) ;
Gut, Ivo (Centre Nacional d'Anàlisi Genòmica) ;
Cusco, Ivon (Centre nacional d'anàlisi genòmica) ;
Trotta, Jean-Rémi (Centre nacional d'anàlisi genòmica) ;
Cruz, Jordi (Centre nacional d'anàlisi genòmica) ;
Diaz-Manera, Jordi (Institut d'Investigació Biomèdica Sant Pau) ;
Milisenda, José César (Centre nacional d'anàlisi genòmica) ;
Ma Grau, Josep (Centre nacional d'anàlisi genòmica) ;
Garcia-Villoria, Judit (Centre nacional d'anàlisi genòmica) ;
Armstrong, Judith (Centre nacional d'anàlisi genòmica) ;
Cantó, Judith (Centre nacional d'anàlisi genòmica) ;
Sala-Coromina, Júlia (Centre nacional d'anàlisi genòmica) ;
Rodríguez-Revenga, Laia (Centre nacional d'anàlisi genòmica) ;
Alías, Laura (Centre nacional d'anàlisi genòmica) ;
Gort, Laura (Centre nacional d'anàlisi genòmica) ;
Gonzalez-Quereda, L (Centre nacional d'anàlisi genòmica) ;
Costa, Mar (Centre nacional d'anàlisi genòmica) ;
Fernández-Callejo, Marcos (Centre nacional d'anàlisi genòmica) ;
López-Sánchez, Marcos (Centre nacional d'anàlisi genòmica) ;
Álvarez-Mora, Maria Isabel (Centre nacional d'anàlisi genòmica) ;
Gut, Marta (Centre nacional d'anàlisi genòmica) ;
Serrano, Mercedes (Centre nacional d'anàlisi genòmica) ;
Raspall-Chaure, Miquel (Centre nacional d'anàlisi genòmica) ;
Del Toro, Mireia (Centre nacional d'anàlisi genòmica) ;
Bayés, Mònica (Centre nacional d'anàlisi genòmica) ;
Baena Díez, Neus (Centre nacional d'anàlisi genòmica) ;
Spataro, Nino (Centre nacional d'anàlisi genòmica) ;
Capdevila, Núria (Centre nacional d'anàlisi genòmica) ;
Ugarteburu, Olatz (Centre nacional d'anàlisi genòmica) ;
Muñoz-Cabello, Patricia (Centre nacional d'anàlisi genòmica) ;
Romero Duque, Penélope (Centre nacional d'anàlisi genòmica) ;
Rabionet, Raquel (Centre nacional d'anàlisi genòmica) ;
Rojas-Garcia, Ricard (Institut d'Investigació Biomèdica Sant Pau) ;
Calvo-Escalona, Rosa (Centre nacional d'anàlisi genòmica) ;
Urreizti, Roser (Centre nacional d'anàlisi genòmica) ;
Bernal, Sara (Institut d'Investigació Biomèdica Sant Pau) ;
Boronat, Susanna (Institut d'Investigació Biomèdica Sant Pau) ;
Balcells, Susana (Centre nacional d'anàlisi genòmica) ;
Vendrell, Teresa (Centre Nacional d'Anàlisi Genòmica (Catalunya). Undiagnosed Rare Disease Program of Catalonia-URD-Cat) ;
Universitat Autònoma de Barcelona
Many patients experiencing a rare disease remain undiagnosed even after genomic testing. Reanalysis of existing genomic data has shown to increase diagnostic yield, although there are few systematic and comprehensive reanalysis efforts that enable collaborative interpretation and future reinterpretation. [...]
2022 - 10.1016/j.jmoldx.2022.02.003
Journal of Molecular Diagnostics, Vol. 24 Núm. 5 (may 2022) , p. 529-542
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