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1. Understanding Midwestern US Teacher Socialization during the COVID-19 Pandemic

Author

Kevin Andrew Richards, Nicolette Smith-Suchon, Christopher J. Kinder, Benjamin D. Kern, Kim C. Graber, and Amelia Mays Woods

Abstract

The COVID-19 pandemic has had both short- and long-term impacts on the institution of schooling, as well as on teachers and students who experienced it. While much has been learned about the impact of the pandemic, including in physical education, less is known about how physical education teachers navigated the sociopolitical realities of their work as they were socialized through the pandemic. Adopting occupational socialization theory, the purpose of this study was to examine the experiences of Midwestern US physical educators during the COVID-19 pandemic and the lasting implications for their careers. Participants were 30 in-service physical education teachers (20 female and 10 male) from one state in the US Midwest who each participated in a semi-structured interview. Semi-structured interviews were audio-recorded and analyzed using a multiphase collaborative qualitative analysis method grounded in analytic induction and deduction and focused on thematic development. Data analysis resulted in four themes: (a) changing instructional modalities was challenging but prompted creativity and growth; (b) resources were scarce, and marginalization was intensified through the pandemic; (c) recognizing and responding to changes in teacher and student health; and (d) stressors associated with COVID-19 may influence teachers' career trajectories. This study not only adds to the literature related to COVID-19 but also is important for understanding how the schools' culture changes through times of crisis. It is likely that other local, regional, national, or international events will cause disruptions in teachers' work and the nature of student learning in the future.

Published
2024
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2. Defaults: a double-edged sword in governing common resources

Author

Montero-Porras, Eladio, Suchon, Rémi, Lenaerts, Tom, and Domingos, Elias Fernández

Subjects
Computer Science - Computer Science and Game Theory, Computer Science - Computers and Society
Abstract

Extracting from shared resources requires making choices to balance personal profit and sustainability. We present the results of a behavioural experiment wherein we manipulate the default extraction from a finite resource. Participants were exposed to two treatments -- pro-social or self-serving extraction defaults -- and a control without defaults. We examined the persistence of these nudges by removing the default after five rounds. Results reveal that a self-serving default increased the average extraction while present, whereas a pro-social default only decreased extraction for the first two rounds. Notably, the influence of defaults depended on individual inclinations, with cooperative individuals extracting more under a self-serving default, and selfish individuals less under a pro-social default. After the removal of the default, we observed no significant differences with the control treatment. Our research highlights the potential of defaults as cost-effective tools for promoting sustainability, while also advocating for a careful use to avoid adverse effects., Comment: 36 pages, 11 pages of Supplementary Information, 11 figures

Published
2024

4. DNA methylation analysis is used to identify novel genetic loci associated with circulating fibrinogen levels in blood.

Author

Hahn, Julie, Bressler, Jan, Domingo-Relloso, Arce, Chen, Ming-Huei, McCartney, Daniel, Teumer, Alexander, van Dongen, Jenny, Kleber, Marcus, Aïssi, Dylan, Swenson, Brenton, Yao, Jie, Zhao, Wei, Huang, Jian, Xia, Yujing, Brown, Michael, Costeira, Ricardo, de Geus, Eco, Delgado, Graciela, Dobson, DreVon, Elliott, Paul, Grabe, Hans, Guo, Xiuqing, Harris, Sarah, Huffman, Jennifer, Kardia, Sharon, Liu, Yongmei, Lorkowski, Stefan, Marioni, Riccardo, Nauck, Matthias, Ratliff, Scott, Sabater-Lleal, Maria, Spector, Tim, Suchon, Pierre, Taylor, Kent, Thibord, Florian, Trégouët, David-Alexandre, Wiggins, Kerri, Willemsen, Gonneke, Bell, Jordana, Boomsma, Dorret, Cole, Shelley, Cox, Simon, Dehghan, Abbas, Greinacher, Andreas, Haack, Karin, März, Winfried, Morange, Pierre-Emmanuel, Rotter, Jerome, Sotoodehnia, Nona, Tellez-Plaza, Maria, Navas-Acien, Ana, Smith, Jennifer, Johnson, Andrew, Fornage, Myriam, Smith, Nicholas, Wolberg, Alisa, Morrison, Alanna, and de Vries, Paul

Subjects
DNA methylation, Mendelian randomization, epigenome-wide association study, fibrinogen, inflammation, Humans, DNA Methylation, Epigenesis, Genetic, Genome-Wide Association Study, Genetic Loci, Inflammation, Fibrinogen, CpG Islands
Abstract

BACKGROUND: Fibrinogen plays an essential role in blood coagulation and inflammation. Circulating fibrinogen levels may be determined based on interindividual differences in DNA methylation at cytosine-phosphate-guanine (CpG) sites and vice versa. OBJECTIVES: To perform an EWAS to examine an association between blood DNA methylation levels and circulating fibrinogen levels to better understand its biological and pathophysiological actions. METHODS: We performed an epigenome-wide association study of circulating fibrinogen levels in 18 037 White, Black, American Indian, and Hispanic participants, representing 14 studies from the Cohorts for Heart and Aging Research in Genomic Epidemiology consortium. Circulating leukocyte DNA methylation was measured using the Illumina 450K array in 12 904 participants and using the EPIC array in 5133 participants. In each study, an epigenome-wide association study of fibrinogen was performed using linear mixed models adjusted for potential confounders. Study-specific results were combined using array-specific meta-analysis, followed by cross-replication of epigenome-wide significant associations. We compared models with and without CRP adjustment to examine the role of inflammation. RESULTS: We identified 208 and 87 significant CpG sites associated with fibrinogen levels from the 450K (p < 1.03 × 10-7) and EPIC arrays (p < 5.78 × 10-8), respectively. There were 78 associations from the 450K array that replicated in the EPIC array and 26 vice versa. After accounting for overlapping sites, there were 83 replicated CpG sites located in 61 loci, of which only 4 have been previously reported for fibrinogen. The examples of genes located near these CpG sites were SOCS3 and AIM2, which are involved in inflammatory pathways. The associations of all 83 replicated CpG sites were attenuated after CRP adjustment, although many remained significant. CONCLUSION: We identified 83 CpG sites associated with circulating fibrinogen levels. These associations are partially driven by inflammatory pathways shared by both fibrinogen and CRP.

Published
2023

6. Venous thromboembolism characteristics and outcomes among RIETE patients tested and untested for inherited thrombophilia

Author

Adarraga, MD, Alberich-Conesa, A, Aibar, J, Alda-Lozano, A, Alfonso, J, Amado, C, Angelina-García, M, Arcelus, JI, Ballaz, A, Barba, R, Barbagelata, C, Barrón, M, Barrón-Andrés, B, Beddar-Chaib, F, Blanco-Molina, A, Caballero, JC, Castellanos, G, Criado, J, De Ancos, C, Del Toro, J, Demelo-Rodríguez, P, De Juana-Izquierdo, C, Díaz-Peromingo, JA, Dubois-Silva, A, Escribano, JC, Falgá, C, Farfán-Sedano, AI, Fernández-Aracil, C, Fernández-Capitán, C, Fernández-Jiménez, B, Fernández-Reyes, JL, Fidalgo, MA, Francisco, I, Gabara, C, Galeano-Valle, F, García-Bragado, F, García-Ortega, A, Gavín-Sebastián, O, Gil-Díaz, A, Gómez-Cuervo, C, González-García, C, González-Munera, A, Grau, E, Guirado, L, Gutiérrez-Guisado, J, Hernández-Blasco, L, Herreros, M, Jara-Palomares, L, Jaras, MJ, Jiménez, D, Jou, I, Joya, MD, Lecumberri, R, Llamas, P, Lobo, JL, López-Jiménez, L, López-Miguel, P, López-Brull, H, López-Núñez, JJ, López-Ruiz, A, López-Sáez, JB, Lorenzo, A, Lumbierres, M, Madridano, O, Maestre, A, Marchena, PJ, Marcos, M, Martín del Pozo, M, Martín-Martos, F, Martínez-Prado, R, Maza, JM, Mena, E, Mercado, MI, Moisés, J, Molino, A, Monreal, M, Morales, MV, Navas, MS, Nieto, JA, Núñez-Fernández, MJ, Olid, M, Ordieres-Ortega, L, Ortiz, M, Osorio, J, Otálora, S, Otero, R, Pacheco-Gómez, N, Pagán, J, Palomeque, AC, Paredes, E, Parra-Caballero, P, Pedrajas, JM, Pérez-Ductor, C, Pérez-Pinar, M, Peris, ML, Pesce, ML, Porras, JA, Puchades, R, Rivera-Cívico, F, Rodríguez-Cobo, A, Romero-Brugera, M, Ruiz-Artacho, P, Ruiz-Giménez, N, Ruiz-Ruiz, J, Salgueiro, G, Sancho, T, Sendín, V, Sigüenza, P, Soler, S, Steinherr, A, Suárez-Fernández, S, Tirado, R, Torrents-Vilar, A, Torres, MI, Trujillo-Santos, J, Uresandi, F, Valle, R, Varona, JF, Villalobos, A, Villares, P, Ay, C, Nopp, S, Pabinger, I, Vanassche, T, Verhamme, P, Verstraete, A, Yoo, HHB, Montenegro, AC, Morales, SN, Roa, J, Hirmerova, J, Malý, R, Bertoletti, L, Bura-Riviere, A, Catella, J, Chopard, R, Couturaud, F, Espitia, O, Grange, C, Le Mao, R, Leclercq, B, Mahé, I, Morange, P, Moustafa, F, Plaisance, L, Sarlon-Bartoli, G, Suchon, P, Versini, E, Schellong, S, Brenner, B, Dally, N, Kenet, G, Tzoran, I, Sadeghipour, P, Rashidi, F, Abenante, A, Barillari, G, Basaglia, M, Bertoni, M, Bilora, F, Brandolin, B, Ciammaichella, M, Colaizzo, D, Dentali, F, Di Micco, P, Grandone, E, Imbalzano, E, Negro, F, Pesavento, R, Poz, A, Prandoni, P, Siniscalchi, C, Taflaj, B, Tufano, A, Visonà, A, Zalunardo, B, Skride, A, Kigitovica, D, Zicans, M, Fonseca, S, Marques, R, Meireles, J, Pinto, S, Bosevski, M, Trajkova, M, Zdraveska, M, Bounameaux, H, Mazzolai, L, Aujayeb, A, Caprini, JA, Weinberg, I, Bui, HM, Cohen, Omri, Waldman Radinsky, Liat, Kenet, Gili, Mahé, Isabelle, Barillari, Giovanni, Soler, Silvia, Sigüenza, Patricia, Del Valle Morales, María, Villares, Paula, and Monreal, Manuel

Published
2024
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7. Clinical outcomes after discontinuing anticoagulant therapy in patients with first unprovoked venous thromboembolism

Author

Agudo, P., Aibar, J., Alberich-Conesa, A., Alda-Lozano, A., Alfonso, J., Amado, C., Angelina-García, M., Arcelus, J.I., Ballaz, A., Barba, R., Barbagelata, C., Barreiro, B., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Beddar-Chaib, F., Blanco-Molina, A., Caballero, J.C., Cañas, I., Castellanos, G., Chasco, L., Claver, G., Criado, J., De Juana-Izquierdo, C., Del Toro, J., Demelo-Rodríguez, P., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Dubois-Silva, A., Escribano, J.C., Falgá, C., Fernández-Aracil, C., Fernández-Capitán, C., Fernández-Jiménez, B., Fernández-Reyes, J.L., Fidalgo, M.A., Francisco, I., Gabara, C., Galeano-Valle, F., García-Bragado, F., García-Ortega, A., Gavín-Sebastián, O., Gil-Díaz, A., Gómez-Cuervo, C., González-Munera, A., Grau, E., Guirado, L., Gutiérrez-Guisado, J., Hernández-Blasco, L., Hernández-Molina, A., Hernández-Vidal, M.J., Jara-Palomares, L., Jiménez, D., Jou, I., Joya, M.D., Lalueza, A., Lecumberri, R., Llamas, P., Lobo, J.L., López-Brull, H., López-De la Fuente, M., López-Jiménez, L., López-Miguel, P., López-Núñez, J.J., López-Ruiz, A., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Lumbierres, M., Madridano, O., Maestre, A., Marchena, P.J., Marcos, M., Martín del Pozo, M., Martín-Martos, F., Martínez-Prado, R., Maza, J.M., Mercado, M.I., Moisés, J., Molino, A., Monreal, M., Monzón, L., Morales, M.V., Muñoz-Gamito, G., Navas, M.S., Nieto, J.A., Núñez-Fernández, M.J., Olid, M., Ordieres-Ortega, L., Ortiz, M., Osorio, J., Otálora, S., Otero, R., Pacheco-Gómez, N., Pagán, J., Palomeque, A.C., Paredes, E., Parra-Rosado, P., Pedrajas, J.M., Pérez-Ductor, C., Pérez-Pinar, M., Peris, M.L., Pesce, M.L., Porras, J.A., Puchades, R., Rivas, A., Rivera-Cívico, F., Rivera-Gallego, A., Rodríguez-Cobo, A., Romero-Bruguera, M., Ruiz-Artacho, P., Salgueiro, G., Sancho, T., Sendín, V., Sigüenza, P., Soler, S., Steinherr, A., Suárez-Fernández, S., Tirado, R., Torrents-Vilar, A., Torres, M.I., Trujillo-Santos, J., Uresandi, F., Valle, R., Varona, J.F., Villalobos, A., Villares, P., Ay, C., Nopp, S., Pabinger, I., Vanassche, T., Verhamme, P., Verstraete, A., Yoo, H.H.B., Montenegro, A.C., Morales, S.N., Roa, J., Hirmerova, J., Malý, R., Varhaník, F., Bertoletti, L., Bura-Riviere, A., Catella, J., Chopard, R., Couturaud, F., Espitia, O., Le Mao, R., Leclerq, B., Mahé, I., Moustafa, F., Plaisance, L., Sarlon-Bartoli, G., Suchon, P., Versini, E., Schellong, S., Brenner, B., Dally, N., Kenet, G., Tzoran, I., Rashidi, F., Sadeghipour, P., Tahmasbi, F., Abenante, A., Barillari, G., Bilora, F., Bissacco, D., Brandolin, B., Casana, R., Ciammaichella, M., Colaizzo, D., Dentali, F., Di Micco, P., Giorgi-Pierfranceschi, M., Grandone, E., Imbalzano, E., Lambertenghi-Deliliers, D., Martini, R., Meschi, T., Negro, F., Poz, A., Prandoni, P., Simioni, P., Siniscalchi, C., Taflaj, B., Ticinesi, A., Tufano, A., Visonà, A., Zalunardo, B., Kalnina, P., Kigitovica, D., Skride, A., Zicans, M., Nishimoto, Y., Yamashita, Y., Tazi-Mezalek, Z., Fonseca, S., Marques, R., Meireles, J., Pinto, S., Bosevski, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Aujayeb, A., Bikdeli, B., Caprini, J.A., Khalil, A., Tafur, J., Weinberg, I., Bui, H.M., Nguyen, S.T., Pham, K.Q., Tran, G.B., Gabara, Cristina, Aibar, Jesus, Nishimoto, Yuji, Yamashita, Yugo, Prandoni, Paolo, Barnes, Geoffrey D., Bikdeli, Behnood, Jiménez, David, Demelo-Rodríguez, Pablo, Peris, Ma Luisa, Nguyen, Son Truong, and Monreal, Manuel

Published
2024
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8. Multi‐phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Author

Temprano‐Sagrera, Gerard, Sitlani, Colleen M, Bone, William P, Martin‐Bornez, Miguel, Voight, Benjamin F, Morrison, Alanna C, Damrauer, Scott M, de Vries, Paul S, Smith, Nicholas L, Sabater‐Lleal, Maria, 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, Christopher, Chasman, Daniel, Strachan, David P, Tregouet, David A, Mook‐Kanamori, Dennis, Gill, Dipender, Thibord, Florian, Asselbergs, Folkert W, Leebeek, Frank WG, 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 PM, Pankratz, Nathan, 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, 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, de Andrade, Mariza, Brody, Jennifer A, Pattee, Jack W, Haessler, Jeffrey, Brumpton, Ben M, Chasman, Daniel I, Suchon, Pierre, Turman, Constance, Germain, Marine, MacDonald, James, and Braekkan, Sigrid K

Subjects
Genetics, Biotechnology, Human Genome, Atherosclerosis, Prevention, Cardiovascular, Hematology, 2.1 Biological and endogenous factors, Aetiology, Cardiovascular Diseases, Factor XI, Genetic Predisposition to Disease, Genome-Wide Association Study, Hemostasis, Hemostatics, Humans, Phenotype, Polymorphism, Single Nucleotide, Tissue Plasminogen Activator, blood coagulation, cardiovascular diseases, genetic pleiotropy, genome-wide association study, hemostasis, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Cardiovascular System & Hematology
Abstract

BackgroundMulti-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.ObjectivesTo discover novel genetic associations by combining summary data of correlated hemostatic traits and disease events.MethodsSummary statistics from genome wide-association studies (GWAS) from seven hemostatic traits (factor VII [FVII], factor VIII [FVIII], von Willebrand factor [VWF] factor XI [FXI], fibrinogen, tissue plasminogen activator [tPA], plasminogen activator inhibitor 1 [PAI-1]) and three major cardiovascular (CV) events (venous thromboembolism [VTE], coronary artery disease [CAD], ischemic stroke [IS]), were combined in 27 multi-trait combinations using metaUSAT. Genetic correlations between phenotypes were calculated using Linkage Disequilibrium Score Regression (LDSC). Newly associated loci were investigated for colocalization. We considered a significance threshold of 1.85 × 10-9 obtained after applying Bonferroni correction for the number of multi-trait combinations performed (n = 27).ResultsAcross the 27 multi-trait analyses, we found 4 novel pleiotropic loci (XXYLT1, KNG1, SUGP1/MAU2, TBL2/MLXIPL) that were not significant in the original individual datasets, were not described in previous GWAS for the individual traits, and that presented a common associated variant between the studied phenotypes.ConclusionsThe discovery of four novel loci contributes to the understanding of the relationship between hemostasis and CV events and elucidate common genetic factors between these traits.

Published
2022

9. Delegation to autonomous agents promotes cooperation in collective-risk dilemmas

Author

Domingos, Elias Fernández, Terrucha, Inês, Suchon, Rémi, Grujić, Jelena, Burguillo, Juan C., Santos, Francisco C., and Lenaerts, Tom

Subjects
Computer Science - Human-Computer Interaction, J.4
Abstract

Home assistant chat-bots, self-driving cars, drones or automated negotiations are some of the several examples of autonomous (artificial) agents that have pervaded our society. These agents enable the automation of multiple tasks, saving time and (human) effort. However, their presence in social settings raises the need for a better understanding of their effect on social interactions and how they may be used to enhance cooperation towards the public good, instead of hindering it. To this end, we present an experimental study of human delegation to autonomous agents and hybrid human-agent interactions centered on a public goods dilemma shaped by a collective risk. Our aim to understand experimentally whether the presence of autonomous agents has a positive or negative impact on social behaviour, fairness and cooperation in such a dilemma. Our results show that cooperation increases when participants delegate their actions to an artificial agent that plays on their behalf. Yet, this positive effect is reduced when humans interact in hybrid human-agent groups. Finally, we show that humans are biased towards agent behaviour, assuming that they will contribute less to the collective effort.

Published
2021

10. Age-Related Differences in the Presentation, Management, and Clinical Outcomes of 100,000 Patients With Venous Thromboembolism in the RIETE Registry

Author

Adarraga, M.D., Alberich-Conesa, A., Aibar, J., Alda-Lozano, A., Alfonso, J., Amado, C., Angelina-García, M., Arcelus, J.I., Ballaz, A., Barba, R., Barbagelata, C., Barrón, M., Barrón-Andrés, B., Bascuñana, J., Beddar-Chaib, F., Blanco-Molina, A., Caballero, J.C., Castellanos, G., Chasco, L., Criado, J., De Ancos, C., Del Toro, J., Demelo-Rodríguez, P., De Juana-Izquierdo, C., Díaz-Brasero, A.M., Díaz-Peromingo, J.A., Dubois-Silva, A., Escribano, J.C., Falgá, C., Farfán-Sedano, A.I., Fernández-Aracil, C., Fernández-Capitán, C., Fernández-Jiménez, B., Fernández-Reyes, J.L., Fidalgo, M.A., Francisco, I., Gabara, C., Galeano-Valle, F., García-Bragado, F., García-Ortega, A., Gavín-Sebastián, O., Gil De Gómez, M.A., Gil-Díaz, A., Gómez-Cuervo, C., González-Munera, A., Grau, E., Guirado, L., Gutiérrez, J., Hernández-Blasco, L., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Jiménez, R., Jou, I., Joya, M.D., Lainez-Justo, S., Lecumberri, R., León-Ramírez, J.M., Llamas, P., Lobo, J.L., López-Jiménez, L., López-Miguel, P., López-Núñez, J.J., López-Ruiz, A., López-Sáez, J.B., Lorenzo, A., Lumbierres, M., Madridano, O., Maestre, A., Marchena, P.J., Marcos, M., Martín del Pozo, M., Martín-Martos, F., Maza, J.M., Mena, E., Mercado, M.I., Moisés, J., Monreal, M., Morales, M.V., Navas, M.S., Nieto, J.A., Núñez-Fernández, M.J., Olid, M., Ordieres-Ortega, L., Ortiz, M., Osorio, J., Otálora, S., Otero, R., Pacheco-Gómez, N., Pagán, J., Palomeque, A.C., Paredes, E., Parra-Caballero, P., Parra-Rosado, P., Pedrajas, J.M., Pérez-Ductor, C., Pérez-Pinar, M., Peris, M.L., Pesce, M.L., Porras, J.A., Puchades, R., Rivera-Cívico, F., Rodríguez-Cobo, A., Rosa, V., Romero-Brugera, M., Ruiz-Artacho, P., Ruiz-Giménez, N., Ruiz-Ruiz, J., Salgueiro, G., Sancho, T., Sendín, V., Sigüenza, P., Soler, S., Suárez-Fernández, S., Tirado, R., Torrents-Vilar, A., Torres, M.I., Trujillo-Santos, J., Uresandi, F., Valle, R., Varona, J.F., Villalobos, A., Villares, P., Ay, C., Nopp, S., Pabinger, I., Vanassche, T., Verhamme, P., Verstraete, A., Yoo, H.H.B., Montenegro, A.C., Morales, S.N., Roa, J., Hirmerova, J., Malý, R., Bertoletti, L., Bura-Riviere, A., Catella, J., Chopard, R., Couturaud, F., Espitia, O., Grange, C., Leclercq, B., Le Mao, R., Mahé, I., Moustafa, F., Plaisance, L., Sarlon-Bartoli, G., Suchon, P., Versini, E., Schellong, S., Brenner, B., Dally, N., Tzoran, I., Sadeghipour, P., Rashidi, F., Abenante, A., Barillari, G., Basaglia, M., Bilora, F., Bissacco, D., Bortoluzzi, C., Brandolin, B., Casana, R., Ciammaichella, M., Colaizzo, D., Dentali, F., Di Micco, P., Grandone, E., Imbalzano, E., Lambertenghi-Deliliers, D., Negro, F., Pesavento, R., Poz, A., Prandoni, P., Scarinzi, P., Siniscalchi, C., Taflaj, B., Tufano, A., Visonà, A., Vo Hong, N., Zalunardo, B., Paluga, R., Skride, A., Kigitovica, D., Fonseca, S., Marques, R., Meireles, J., Pinto, S., Bosevski, M., Trajkova, M., Zdraveska, M., Bounameaux, H., Mazzolai, L., Aujayeb, A., Caprini, J.A., Weinberg, I., Bui, H.M., Ortega, Alberto García, Jiménez, David, Pedro-Tudela, Ana, Pérez-Ductor, Cristina, Fernández-Capitán, Carmen, Falgá, Conxita, Skride, Andris, Siniscalchi, Carmine, Weinberg, Ido, and Monreal, Manuel

Published
2024
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11. Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism

Author

Iglesias, Maria Jesus, Sanchez-Rivera, Laura, Ibrahim-Kosta, Manal, Naudin, Clément, Munsch, Gaëlle, Goumidi, Louisa, Farm, Maria, Smith, Philip M., Thibord, Florian, Kral-Pointner, Julia Barbara, Hong, Mun-Gwan, Suchon, Pierre, Germain, Marine, Schrottmaier, Waltraud, Dusart, Philip, Boland, Anne, Kotol, David, Edfors, Fredrik, Koprulu, Mine, Pietzner, Maik, Langenberg, Claudia, Damrauer, Scott M., Johnson, Andrew D., Klarin, Derek M., Smith, Nicholas L., Smadja, David M., Holmström, Margareta, Magnusson, Maria, Silveira, Angela, Uhlén, Mathias, Renné, Thomas, Martinez-Perez, Angel, Emmerich, Joseph, Deleuze, Jean-Francois, Antovic, Jovan, Soria Fernandez, Jose Manuel, Assinger, Alice, Schwenk, Jochen M., Souto Andres, Joan Carles, Morange, Pierre-Emmanuel, Butler, Lynn Marie, Trégouët, David-Alexandre, and Odeberg, Jacob

Published
2023
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12. Author Correction: Elevated plasma complement factor H related 5 protein is associated with venous thromboembolism

Author

Iglesias, Maria Jesus, Sanchez-Rivera, Laura, Ibrahim-Kosta, Manal, Naudin, Clément, Munsch, Gaëlle, Goumidi, Louisa, Farm, Maria, Smith, Philip M., Thibord, Florian, Kral-Pointner, Julia Barbara, Hong, Mun-Gwan, Suchon, Pierre, Germain, Marine, Schrottmaier, Waltraud, Dusart, Philip, Boland, Anne, Kotol, David, Edfors, Fredrik, Koprulu, Mine, Pietzner, Maik, Langenberg, Claudia, Damrauer, Scott M., Johnson, Andrew D., Klarin, Derek M., Smith, Nicholas L., Smadja, David M., Holmström, Margareta, Magnusson, Maria, Silveira, Angela, Uhlén, Mathias, Renné, Thomas, Martinez-Perez, Angel, Emmerich, Joseph, Deleuze, Jean-Francois, Antovic, Jovan, Soria Fernandez, Jose Manuel, Assinger, Alice, Schwenk, Jochen M., Souto Andres, Joan Carles, Morange, Pierre-Emmanuel, Butler, Lynn Marie, Trégouët, David-Alexandre, and Odeberg, Jacob

Published
2023
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13. A prognostic score to identify women at increased risk for abnormal uterine bleeding during anticoagulation for venous thromboembolism

Author

Monreal, Manuel, Prandoni, Paolo, Brenner, Benjamin, Farge-Bancel, Dominique, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Schellong, Sebastian, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Verhamme, Peter, Caprini, Joseph A., Bui, Hanh My, Adarraga, M.D., Agudo, P., Amado, C., Arcelus, J.I., Ballaz, A., Bascuñana, J., Barba, R., Barbagelata, C., Barrón, M., Barrón-Andrés, B., Blanco-Molina, A., Beddar Chaib, F., Botella, E., Cañas, I., Carrero-Arribas, R., Casado, I., Cerdá, P., Chasco, L., Criado, J., de Ancos, C., de Miguel, J., del Toro, J., Demelo-Rodríguez, P., Díaz-Brasero, A.M., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Domínguez, I.M., Dubois-Silva, A., Escribano, J.C., Espósito, F., Farfán-Sedano, A.I., Falgá, C., Fernández-Capitán, C., Fernández-Jiménez, B., Fernández-Muixi, J., Fernández-Reyes, J.L., Font, C., Francisco, I., Galeano-Valle, F., García, M.A., García-Bragado, F., García de Herreros, M., Gavín-Blanco, O., Gil-Díaz, A., Gómez-Cuervo, C., Gómez-Mosquera, A.M., Gonzalez-Moreno, M., Grau, E., Guirado, L., Gutiérrez, J., Hernández-Blasco, L., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Jou, I., Joya, M.D., Lacruz, B., Lainez-Justo, S., A, Latorre, J, Lima, Jl, Lobo, López-De la Fuente, M., López-Jiménez, L., López-Meseguer, M., López-Miguel, P., López-Núñez, J.J., López-Reyes, R., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Madridano, O., Maestre, A., Marchena, P.J., Martín-Guerra, J.M., Martín-Martos, F., Mellado, M., Mena, E., Moisés, J., Mercado, M.I., Monreal, M., Muñoz-Blanco, A., Muñoz-Gamito, G., Morales, M.V., Nieto, J.A., Noguera-Gras, E., Núñez-Fernández, M.J., Olid-Velilla, M., Osorio, J., Otalora, S., Otero, R., Paredes-Ruiz, D., Parra, P., Parra, V., Pedrajas, J.M., Pérez-López, M., Peris, M.L., Pesce, M.L., Porras, J.A., Poyo-Molina, J., Puchades, R., Riera-Mestre, A., Rivera-Civico, F., Rivera-Gallego, A., Roca, M., Rosa, V., Rodríguez-Cobo, A., Rodríguez-Matute, C., Ruiz-Artacho, P., Ruiz-Giménez, N., Ruiz-Ruiz, J., Salgueiro, G., Sancho, T., Sendín, V., Sigüenza, P., Soler, S., Suárez-Rodríguez, B., Suriñach, J.M., Tiberio, G., Torres, M.I., Torres-Sánchez, A., Trujillo-Santos, J., Uresandi, F., Usandizaga, E., Valle, R., Varona, J.F., Vela, L., Vela, J.R., Villalobos, A., Villares, P., Ay, C., Nopp, S., Pabinger, I., Engelen, M.M., Martens, C., Verhamme, P., Yoo, H.H.B., Arguello, J.D., Montenegro, A.C., Roa, J., Hirmerova, J., Malý, R., Accassat, S., Bertoletti, L., Bura-Riviere, A., Catella, J., Chopard, R., Couturaud, F., Espitia, O., El Harake, S., Le Mao, R., Mahé, I., Moustafa, F., Plaisance, L., Sarlon-Bartoli, G., Suchon, P., Versini, E., Schellong, S., Braester, A., Brenner, B., Kenet, G., Tzoran, I., Sadeghipour, P., Basaglia, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Ciammaichella, M., De Angelis, A., Dentali, F., Di Micco, P., Imbalzano, E., Merla, S., Pesavento, R., Prandoni, P., Siniscalchi, C., Tufano, A., Visonà, A., Vo Hong, N., Zalunardo, B., Kigitovica, D., Rusa, E., Skride, A., Fonseca, S., Manuel, M., Meireles, J., Bosevski, M., Eftimova, A., Zdraveska, M., Bounameaux, H., Mazzolai, L., Aujayeb, A., Caprini, J.A., Weinberg, I., Bui, H.M., Sarlon-Bartoli, Gabrielle, Criado, Juan, Middeldorp, Saskia, Nieto, José Antonio, Díaz-Pedroche, María del Carmen, Moustafa, Farès, Ruiz-Giménez, Nuria, and DI Micco, Pierpaolo

Published
2023
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14. COVID-19–associated venous thromboembolism: risk of recurrence and major bleeding

Author

Adarraga, M.D., Alberich-Conesa, A., Amado, C., Amorós, S., Arcelus, J.I., Ballaz, A., Barba, R., Barbagelata, C., Barrón, M., Barrón-Andrés, B., Blanco-Molina, A., Botella, E., Carrero, R., Casado, I., Criado, J., del Toro, J., De Ancos, C., De Juana-Izquierdo, C., Demelo-Rodríguez, P., Díaz-Brasero, A.M., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Dubois-Silva, A., Escribano, J.C., Espósito, F., Falgá, C., Farfán-Sedano, A.I., Fernández-Capitán, C., Fernández-Jiménez, B., Fernández-Muixi, J., Fernández-Reyes, J.L., Font, C., Francisco, I., Galeano-Valle, F., García, M.A., García de Herreros, M., García-Bragado, F., García-Ortega, A., Gavín-Sebastián, O., Gil-Díaz, A., Gil-Hernández, A., Gómez-Cuervo, C., Gómez-Mosquera, A.M., González-Martínez, J., Grau, E., Guirado, L., Gutiérrez, J., Hernández-Blasco, L., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Jou, I., Joya, M.D., Lacruz, B., Lalueza, A., Lainez-Justo, S., Lecumberri, R., León-Ramírez, J.M., Lobo, J.L., López-De la Fuente, M., López-Jiménez, L., López-Miguel, P., López-Núñez, J.J., López-Reyes, R., López-Ruiz, A., López-Sáez, J.B., Lorente, M.A., Lorenzo, A., Lumbierres, M., Madridano, O., Maestre, A., Mas-Maresma, L., Marcos, M., Martín-Guerra, J.M., Martín-Martos, F., Mellado, M., Mena, E., Mercado, M.I., Moisés, J., Monreal, M., Muñoz-Blanco, A., Muñoz-Gamito, G., Nieto, J.A., Núñez-Fernández, M.J., Osorio, J., Otalora, S., Pacheco-Gómez, N., Paredes-Ruiz, D., Parra, P., Pedrajas, J.M., Pérez-Ductor, C., Pérez-Jacoiste, A., Pérez-Pérez, J.L., Peris, M.L., Pesce, M.L., Porras, J.A., Poyo-Molina, J., Puchades, R., Riera-Mestre, A., Rivera-Civico, F., Rivera-Gallego, A., Roca, M., Rubio, C.M., Rosa, V., Rodríguez-Cobo, A., Ruiz-Giménez, N., Ruiz-Ruiz, J., Salgueiro, G., Sancho, T., Sendín, V., Sigüenza, P., Soler, S., Suriñach, J.M., Tiberio, G., Tolosa, C., Torres, M.I., Trujillo-Santos, J., Uresandi, F., Usandizaga, E., Valle, R., Varona, J.F., Vela, J.R., Vela, L., Vidal, G., Villalobos, A., Villares, P., Ay, C., Nopp, S., Pabinger, I., Engelen, M., Martens, C., Verhamme, P., Yoo, H.H.B., Arguello, J.D., Montenegro, A.C., Roa, J., Hirmerova, J., Malý, R., Accassat, S., Bertoletti, L., Bura-Riviere, A., Catella, J., Chopard, R., Couturaud, F., Espitia, O., Grange, C., Leclercq, B., Le Mao, R., Mahé, I., Moustafa, F., Plaisance, L., Poenou, G., Sarlon-Bartoli, G., Suchon, P., Versini, E., Schellong, S., Braester, A., Brenner, B., Kenet, G., Najib, D., Tzoran, I., Farrashi, M., Sadeghipour, P., Basaglia, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Ciammaichella, M., Colaizzo, D., Dentali, F., Di Micco, P., Grandone, E., Imbalzano, E., Merla, S., Pesavento, R., Prandoni, P., Scarinzi, P., Siniscalchi, C., Taflaj, B., Tufano, A., Visonà, A., Vo Hong, N., Zalunardo, B., Fonseca, S., Manuel, M., Meireles, J., Bosevski, M., Eftimova, A., Zdraveska, M., Bounameaux, H., Mazzolai, L., Aujayeb, A., Caprini, J.A., Weinberg, I., Bui, H.M., Demelo-Rodriguez, Pablo, Alonso-Beato, Rubén, Jara-Palomares, Luis, Galeano-Valle, Francisco, Bura-Riviere, Alessandra, Visonà, Adriana, Francisco, Iria, Vidal, Gemma, López-Ruiz, Antonio, and Monreal, Manuel

Published
2023
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15. Venous thromboembolism characteristics, treatment and outcomes in young adults: findings from the Registro Informatizado de Enfermedad TromboEmbólica registry

Author

Monreal, Manuel, Prandoni, Paolo, Brenner, Benjamin, Farge-Bancel, Dominique, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Schellong, Sebastian, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Verhamme, Peter, Caprini, Joseph A., Bui, Hanh My, Adarraga, M.D., Alberich-Conesa, A., Alonso-Carrillo, J., Amado, C., Amorós, S., Arcelus, J.I., Ballaz, A., Barba, R., Barbagelata, C., Barrón, M., Barrón-Andrés, B., Blanco-Molina, A., Botella, E., Casado, I., Chasco, L., Cerdà, P., Criado, J., del Toro, J., De Juana-Izquierdo, C., Demelo-Rodríguez, P., Díaz-Brasero, A.M., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Dubois-Silva, A., Escribano, J.C., Espósito, F., Falgá, C., Fernández-Capitán, C., Fernández-Jiménez, B., Fernández-Muixi, J., Fernández-Reyes, J.L., Fidalgo, M.A., Font, C., Francisco, I., Galeano-Valle, F., García, M.A., García de Herreros, M., García-Bragado, F., García-Ortega, A., Gavín-Sebastián, O., Gil-Díaz, A., Gómez-Cuervo, C., Gómez-Mosquera, A.M., González-Martínez, J., González-Moreno, M., Grau, E., Guirado, L., Gutiérrez, J., Hernández-Blasco, L., Jaras, M.J., Jiménez, D., Jou, I., Joya, M.D., Lacruz, B., Lainez-Justo, S., Lalueza, A., Latorre, A., Lecumberri, R., Lobo, J.L., López-De la Fuente, M., López-Jiménez, L., López-Miguel, P., López-Núñez, J.J., López-Ruiz, A., López-Sáez, J.B., Lorenzo, A., Lumbierres, M., Madridano, O., Maestre, A., Marcos, M., Martín-Martos, F., Mellado, M., Mena, E., Mercado, M.I., Moisés, J., Monreal, M., Muñoz-Blanco, A., Muñoz-Gamito, G., Morales, M.V., Nieto, J.A., Noguera-Gras, E., Núñez-Fernández, M.J., Osorio, J., Otalora, S., Pacheco-Gómez, N., Paredes-Ruiz, D., Parra, P., Pedrajas, J.M., Pérez-Ductor, C., Pérez-Jacoiste, M.A., Pérez-Pérez, J.L., Peris, M.L., Porras, J.A., Poyo-Molina, J., Puchades, R., Riera-Mestre, A., Rivera-Civico, F., Rivera-Gallego, A., Roca, M., Rosa, V., Rodríguez-Cobo, A., Ruiz-Giménez, N., Salgueiro, G., Sancho, T., Sendín, V., Sigüenza, P., Soler, S., Suriñach, J.M., Tiberio, G., Torres, M.I., Trujillo-Santos, J., Uresandi, F., Usandizaga, E., Valle, R., Varona, J.F., Vela, L., Vela, J.R., Villalobos, A., Villares, P., Ay, C., Nopp, S., Pabinger, I., Engelen, M.M., Martens, C., Verhamme, P., Yoo, H.H.B., Arguello, J.D., Montenegro, A.C., Roa, J., Hirmerova, J., Malý, R., Accassat, S., Bertoletti, L., Bura-Riviere, A., Catella, J., Chopard, R., Couturaud, F., Espitia, O., Leclercq, B., Le Mao, R., Mahé, I., Moustafa, F., Plaisance, L., Poenou, G., Sarlon-Bartoli, G., Suchon, P., Versini, E., Schellong, S., Braester, A., Brenner, B., Kenet, G., Tzoran, I., Sadeghipour, P., Basaglia, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Ciammaichella, M., Colaizzo, D., De Angelis, A., Dentali, F., Di Micco, P., Grandone, E., Imbalzano, E., Merla, S., Pesavento, R., Prandoni, P., Scarinzi, P., Siniscalchi, C., Tufano, A., Visonà, A., Vo Hong, N., Zalunardo, B., Gibietis, V., Kigitovica, D., Skride, A., Fonseca, S., Manuel, M., Meireles, J., Bosevski, M., Bounameaux, H., Mazzolai, L., Aujayeb, A., Caprini, J.A., Weinberg, I., Bui, H.M., Cohen, Omri, Barg, Assaf A., Nowak-Göttl, Ulrike, Amado-Fernández, Cristina, Mazzolai, Lucia, Tiberio, Gregorio, Skride, Andris, Morales, María del Valle, and Kenet, Gili

Published
2023
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18. Heart Rate and Mortality in Patients With Acute Symptomatic Pulmonary Embolism

Author

Monreal, Manuel, Prandoni, Paolo, Brenner, Benjamin, Farge-Bancel, Dominique, Barba, Raquel, Di Micco, Pierpaolo, Bertoletti, Laurent, Schellong, Sebastian, Tzoran, Inna, Reis, Abilio, Bosevski, Marijan, Bounameaux, Henri, Malý, Radovan, Verhamme, Peter, Caprini, Joseph A., Bui, Hanh My, Adarraga, M.D., Aibar, J., Aibar, M.A., Alonso, J., Amado, C., Arcelus, J.I., Asuero, A., Azcarate-Agüero, P., Ballaz, A., Barba, R., Barbagelata, C., Barrón, M., Barrón-Andrés, B., Blanco-Molina, A., Beddar Chaib, F., Camon, A.M., Castro, J., Chasco, L., Criado, J., de Ancos, C., del Toro, J., Demelo-Rodríguez, P., Díaz-Brasero, A.M., Díaz-Pedroche, M.C., Díaz-Peromingo, J.A., Di Campli, M.V., Dubois-Silva, A., Escribano, J.C., Espósito, F., Farfán-Sedano, A.I., Fernández-Capitán, C., Fernández-Reyes, J.L., Fidalgo, M.A., Flores, K., Font, C., Font, L., Francisco, I., Gabara, C., Galeano-Valle, F., García, M.A., García-Bragado, F., García de Herreros, M., García de la Garza, R., García-Díaz, C., Gil-Díaz, A., Gómez-Cuervo, C., Giménez-Suau, M., Grau, E., Guirado, L., Gutiérrez, J., Hernández-Blasco, L., Jara-Palomares, L., Jaras, M.J., Jiménez, D., Jiménez-Alfaro, C., Joya, M.D., Lainez-Justo, S., Latorre, A., Lima, J., Lobo, J.L., López-Jiménez, L., López-Miguel, P., López-Núñez, J.J., López-Reyes, R., López-Sáez, J.B., Lorenzo, A., Madridano, O., Maestre, A., Marchena, P.J., Martín del Pozo, M., Martín-Martos, F., Martínez-Urbistondo, D., Mella, C., Mercado, M.I., Moisés, J., Monreal, M., Muñoz, M., Muñoz-Blanco, A., Nieto, J.A., Nofuentes-Pérez, E., Núñez-Fernández, M.J., Olid-Velilla, M., Olivares, M.C., Osorio, J., Otalora, S., Otero, R., Pedrajas, J.M., Pellejero, G., Porras, J.A., Portillo, J., Rodríguez-Matute, C., Rosa, V., Ruiz-Artacho, P., Ruiz-Ruiz, J., Salgueiro, G., Sánchez-Martínez, R., Sánchez-Muñoz-Torrero, J.F., Sancho, T., Soler, S., Suárez-Rodríguez, B., Suriñach, J.M., Torres, M.I., Tolosa, C., Trujillo-Santos, J., Uresandi, F., Valero, B., Valle, R., Varona, J.F., Vela, L., Vela, J.R., Vidal, G., Villalobos, A., Villares, P., Zamora, C., Ay, C., Nopp, S., Pabinger, I., Vanassche, T., Vandenbriele, C., Verhamme, P., Hirmerova, J., Malý, R., Accassat, S., Ait Abdallah, N., Bertoletti, L., Bura-Riviere, A., Catella, J., Couturaud, F., Crichi, B., Debourdeau, P., Espitia, O., Farge-Bancel, D., Grange, C., Helfer, H., Lacut, K., Le Mao, R., Mahé, I., Morange, P., Moustafa, F., Poenou, G., Sarlon-Bartoli, G., Suchon, P., Quere, I., Schellong, S., Braester, A., Brenner, B., Kenet, G., Tzoran, I., Basaglia, M., Bilora, F., Bortoluzzi, C., Brandolin, B., Ciammaichella, M., De Angelis, A., Di Micco, P., Imbalzano, E., Merla, S., Pesavento, R., Prandoni, P., Siniscalchi, C., Tufano, A., Visonà, A., Vo Hong, N., Zalunardo, B., Nishimoto, Y., Sato, Y., Birzulis, J., Skride, A., Zaicenko, A., Fonseca, S., Martins, F., Meireles, J., Bosevski, M., Krstevski, G., Bounameaux, H., Mazzolai, L., Bikdeli, B., Caprini, J.A., Bui, H.M., Jaureguízar, Ana, Jiménez, David, Bikdeli, Behnood, Ruiz-Artacho, Pedro, Muriel, Alfonso, Tapson, Victor, López-Reyes, Raquel, Valero, Beatriz, and Kenet, Gili

Published
2022
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19. Genome-Wide Association Transethnic Meta-Analyses Identifies Novel Associations Regulating Coagulation Factor VIII and von Willebrand Factor Plasma Levels

Author

Sabater-Lleal, Maria, Huffman, Jennifer E, de Vries, Paul S, Marten, Jonathan, Mastrangelo, Michael A, Song, Ci, Pankratz, Nathan, Ward-Caviness, Cavin K, Yanek, Lisa R, Trompet, Stella, Delgado, Graciela E, Guo, Xiuqing, Bartz, Traci M, Martinez-Perez, Angel, Germain, Marine, de Haan, Hugoline G, Ozel, Ayse B, Polasek, Ozren, Smith, Albert V, Eicher, John D, Reiner, Alex P, Tang, Weihong, Davies, Neil M, Stott, David J, Rotter, Jerome I, Tofler, Geoffrey H, Boerwinkle, Eric, de Maat, Moniek PM, Kleber, Marcus E, Welsh, Paul, Brody, Jennifer A, Chen, Ming-Huei, Vaidya, Dhananjay, Soria, José Manuel, Suchon, Pierre, van Hylckama Vlieg, Astrid, Desch, Karl C, Kolcic, Ivana, Joshi, Peter K, Launer, Lenore J, Harris, Tamara B, Campbell, Harry, Rudan, Igor, Becker, Diane M, Li, Jun Z, Rivadeneira, Fernando, Uitterlinden, André G, Hofman, Albert, Franco, Oscar H, Cushman, Mary, Psaty, Bruce M, Morange, Pierre-Emmanuel, McKnight, Barbara, Chong, Michael R, Fernandez-Cadenas, Israel, Rosand, Jonathan, Lindgren, Arne, Consortium, INVENT Consortium MEGASTROKE Consortium of the International Stroke Genetics, Gudnason, Vilmundur, Wilson, James F, Hayward, Caroline, Ginsburg, David, Fornage, Myriam, Rosendaal, Frits R, Souto, Juan Carlos, Becker, Lewis C, Jenny, Nancy S, März, Winfried, Jukema, J Wouter, Dehghan, Abbas, Trégouët, David-Alexandre, Morrison, Alanna C, Johnson, Andrew D, O’Donnell, Christopher J, Strachan, David P, Lowenstein, Charles J, and Smith, Nicholas L

Subjects
Epidemiology, Health Sciences, Human Genome, Hematology, Genetics, Clinical Research, Atherosclerosis, Biotechnology, 2.1 Biological and endogenous factors, Cardiovascular, Blood, Arterial Occlusive Diseases, Biomarkers, Blood Coagulation, Blood Coagulation Disorders, Inherited, Factor VIII, Genetic Loci, Genetic Markers, Genetic Predisposition to Disease, Genome-Wide Association Study, Humans, Mendelian Randomization Analysis, Phenotype, Ribosomal Protein L3, Risk Factors, Venous Thrombosis, von Willebrand Factor, cardiovascular diseases, factor VIII, genome-wide association studies, genetics, risk factors, von Willebrand factor, INVENT Consortium, MEGASTROKE Consortium of the International Stroke Genetics Consortium, Cardiorespiratory Medicine and Haematology, Clinical Sciences, Public Health and Health Services, Cardiovascular System & Hematology, Cardiovascular medicine and haematology, Clinical sciences, Sports science and exercise
Abstract

BackgroundFactor VIII (FVIII) and its carrier protein von Willebrand factor (VWF) are associated with risk of arterial and venous thrombosis and with hemorrhagic disorders. We aimed to identify and functionally test novel genetic associations regulating plasma FVIII and VWF.MethodsWe meta-analyzed genome-wide association results from 46 354 individuals of European, African, East Asian, and Hispanic ancestry. All studies performed linear regression analysis using an additive genetic model and associated ≈35 million imputed variants with natural log-transformed phenotype levels. In vitro gene silencing in cultured endothelial cells was performed for candidate genes to provide additional evidence on association and function. Two-sample Mendelian randomization analyses were applied to test the causal role of FVIII and VWF plasma levels on the risk of arterial and venous thrombotic events.ResultsWe identified 13 novel genome-wide significant ( P≤2.5×10-8) associations, 7 with FVIII levels ( FCHO2/TMEM171/TNPO1, HLA, SOX17/RP1, LINC00583/NFIB, RAB5C-KAT2A, RPL3/TAB1/SYNGR1, and ARSA) and 11 with VWF levels ( PDHB/PXK/KCTD6, SLC39A8, FCHO2/TMEM171/TNPO1, HLA, GIMAP7/GIMAP4, OR13C5/NIPSNAP, DAB2IP, C2CD4B, RAB5C-KAT2A, TAB1/SYNGR1, and ARSA), beyond 10 previously reported associations with these phenotypes. Functional validation provided further evidence of association for all loci on VWF except ARSA and DAB2IP. Mendelian randomization suggested causal effects of plasma FVIII activity levels on venous thrombosis and coronary artery disease risk and plasma VWF levels on ischemic stroke risk.ConclusionsThe meta-analysis identified 13 novel genetic loci regulating FVIII and VWF plasma levels, 10 of which we validated functionally. We provide some evidence for a causal role of these proteins in thrombotic events.

Published
2019

22. Whole-genome analysis of plasma fibrinogen reveals population-differentiated genetic regulators with putative liver roles

Author

Huffman, Jennifer E., Nicholas, Jayna, Hahn, Julie, Heath, Adam S., Raffield, Laura M., Yanek, Lisa R., Brody, Jennifer A., Thibord, Florian, Almasy, Laura, Bartz, Traci M., Bielak, Lawrence F., Bowler, Russell P., Carrasquilla, Germán D., Chasman, Daniel I., Chen, Ming-Huei, Emmert, David B., Ghanbari, Mohsen, Haessler, Jeffrey, Hottenga, Jouke-Jan, Kleber, Marcus E., Le, Ngoc-Quynh, Lee, Jiwon, Lewis, Joshua P., Li-Gao, Ruifang, Luan, Jian'an, Malmberg, Anni, Mangino, Massimo, Marioni, Riccardo E., Martinez-Perez, Angel, Pankratz, Nathan, Polasek, Ozren, Richmond, Anne, Rodriguez, Benjamin A. T., Rotter, Jerome I., Steri, Maristella, Suchon, Pierre, Trompet, Stella, Weiss, Stefan, Zare, Marjan, Auer, Paul, Cho, Michael H., Christofidou, Paraskevi, Davies, Gail, de Geus, Eco, Deleuze, Jean-François, Delgado, Graciela E., Ekunwe, Lynette, Faraday, Nauder, Gögele, Martin, Greinacher, Andreas, Gao, He, Howard, Tom, Joshi, Peter K., Kilpeläinen, Tuomas O., Lahti, Jari, Linneberg, Allan, Naitza, Silvia, Noordam, Raymond, Paüls-Vergés, Ferran, Rich, Stephen S., Rosendaal, Frits R., Rudan, Igor, Ryan, Kathleen A., Souto, Juan Carlos, van Rooij, Frank J. A., Wang, Heming, Zhao, Wei, Becker, Lewis C., Beswick, Andrew, Brown, Michael R., Cade, Brian E., Campbell, Harry, Cho, Kelly, Crapo, James D., Curran, Joanne E., de Maat, Moniek P. M., Doyle, Margaret, Elliott, Paul, Floyd, James S., Fuchsberger, Christian, Grarup, Niels, Guo, Xiuqing, Harris, Sarah E., Hou, Lifang, Kolcic, Ivana, Kooperberg, Charles, Menni, Cristina, Nauck, Matthias, O'Connell, Jeffrey R., Orrù, Valeria, Psaty, Bruce M., Räikkönen, Katri, Smith, Jennifer A., Soria, Jose Manuel, Stott, David J., van Hylckama Vlieg, Astrid, Watkins, Hugh, Willemsen, Gonneke, Wilson, Peter W. F., Ben-Shlomo, Yoav, Blangero, John, Boomsma, Dorret, Cox, Simon R., Dehghan, Abbas, Eriksson, Johan G., Fiorillo, Edoardo, Fornage, Myriam, Hansen, Torben, Hayward, Caroline, Ikram, M. Arfan, Jukema, J. Wouter, Kardia, Sharon L. R., Lange, Leslie A., März, Winfried, Mathias, Rasika A., Mitchell, Braxton D., Mook-Kanamori, Dennis O., Morange, Pierre-Emmanuel, Pedersen, Oluf, Pramstaller, Peter P., Redline, Susan, Reiner, Alexander, Ridker, Paul M., Silverman, Edwin K., Spector, Tim D., Völker, Uwe, Wareham, Nicholas J., Wilson, James F., Yao, Jie, Trégouët, David-Alexandre, Johnson, Andrew D., Wolberg, Alisa S., de Vries, Paul S., Sabater-Lleal, Maria, Morrison, Alanna C., and Smith, Nicholas L.

Abstract

•Largest and most diverse genetic study of plasma fibrinogen identifies 54 regions (18 novel), housing 69 distinct variants (20 novel).•Links to (1) liver enzyme, blood cell, and lipid genetic signals, (2) liver regulatory elements, and (3) thrombotic and inflammatory disease.

Published
2024
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27. Age-Related Differences in the Presentation, Management, and Clinical Outcomes of 100,000 Patients With Venous Thromboembolism in the RIETE Registry

Author

Ortega, Alberto García, primary, Jiménez, David, additional, Pedro-Tudela, Ana, additional, Pérez-Ductor, Cristina, additional, Fernández-Capitán, Carmen, additional, Falgá, Conxita, additional, Skride, Andris, additional, Siniscalchi, Carmine, additional, Weinberg, Ido, additional, Monreal, Manuel, additional, Adarraga, M.D., additional, Alberich-Conesa, A., additional, Aibar, J., additional, Alda-Lozano, A., additional, Alfonso, J., additional, Amado, C., additional, Angelina-García, M., additional, Arcelus, J.I., additional, Ballaz, A., additional, Barba, R., additional, Barbagelata, C., additional, Barrón, M., additional, Barrón-Andrés, B., additional, Bascuñana, J., additional, Beddar-Chaib, F., additional, Blanco-Molina, A., additional, Caballero, J.C., additional, Castellanos, G., additional, Chasco, L., additional, Criado, J., additional, De Ancos, C., additional, Del Toro, J., additional, Demelo-Rodríguez, P., additional, De Juana-Izquierdo, C., additional, Díaz-Brasero, A.M., additional, Díaz-Peromingo, J.A., additional, Dubois-Silva, A., additional, Escribano, J.C., additional, Falgá, C., additional, Farfán-Sedano, A.I., additional, Fernández-Aracil, C., additional, Fernández-Capitán, C., additional, Fernández-Jiménez, B., additional, Fernández-Reyes, J.L., additional, Fidalgo, M.A., additional, Francisco, I., additional, Gabara, C., additional, Galeano-Valle, F., additional, García-Bragado, F., additional, García-Ortega, A., additional, Gavín-Sebastián, O., additional, Gil De Gómez, M.A., additional, Gil-Díaz, A., additional, Gómez-Cuervo, C., additional, González-Munera, A., additional, Grau, E., additional, Guirado, L., additional, Gutiérrez, J., additional, Hernández-Blasco, L., additional, Jara-Palomares, L., additional, Jaras, M.J., additional, Jiménez, D., additional, Jiménez, R., additional, Jou, I., additional, Joya, M.D., additional, Lainez-Justo, S., additional, Lecumberri, R., additional, León-Ramírez, J.M., additional, Llamas, P., additional, Lobo, J.L., additional, López-Jiménez, L., additional, López-Miguel, P., additional, López-Núñez, J.J., additional, López-Ruiz, A., additional, López-Sáez, J.B., additional, Lorenzo, A., additional, Lumbierres, M., additional, Madridano, O., additional, Maestre, A., additional, Marchena, P.J., additional, Marcos, M., additional, Martín del Pozo, M., additional, Martín-Martos, F., additional, Maza, J.M., additional, Mena, E., additional, Mercado, M.I., additional, Moisés, J., additional, Monreal, M., additional, Morales, M.V., additional, Navas, M.S., additional, Nieto, J.A., additional, Núñez-Fernández, M.J., additional, Olid, M., additional, Ordieres-Ortega, L., additional, Ortiz, M., additional, Osorio, J., additional, Otálora, S., additional, Otero, R., additional, Pacheco-Gómez, N., additional, Pagán, J., additional, Palomeque, A.C., additional, Paredes, E., additional, Parra-Caballero, P., additional, Parra-Rosado, P., additional, Pedrajas, J.M., additional, Pérez-Ductor, C., additional, Pérez-Pinar, M., additional, Peris, M.L., additional, Pesce, M.L., additional, Porras, J.A., additional, Puchades, R., additional, Rivera-Cívico, F., additional, Rodríguez-Cobo, A., additional, Rosa, V., additional, Romero-Brugera, M., additional, Ruiz-Artacho, P., additional, Ruiz-Giménez, N., additional, Ruiz-Ruiz, J., additional, Salgueiro, G., additional, Sancho, T., additional, Sendín, V., additional, Sigüenza, P., additional, Soler, S., additional, Suárez-Fernández, S., additional, Tirado, R., additional, Torrents-Vilar, A., additional, Torres, M.I., additional, Trujillo-Santos, J., additional, Uresandi, F., additional, Valle, R., additional, Varona, J.F., additional, Villalobos, A., additional, Villares, P., additional, Ay, C., additional, Nopp, S., additional, Pabinger, I., additional, Vanassche, T., additional, Verhamme, P., additional, Verstraete, A., additional, Yoo, H.H.B., additional, Montenegro, A.C., additional, Morales, S.N., additional, Roa, J., additional, Hirmerova, J., additional, Malý, R., additional, Bertoletti, L., additional, Bura-Riviere, A., additional, Catella, J., additional, Chopard, R., additional, Couturaud, F., additional, Espitia, O., additional, Grange, C., additional, Leclercq, B., additional, Le Mao, R., additional, Mahé, I., additional, Moustafa, F., additional, Plaisance, L., additional, Sarlon-Bartoli, G., additional, Suchon, P., additional, Versini, E., additional, Schellong, S., additional, Brenner, B., additional, Dally, N., additional, Tzoran, I., additional, Sadeghipour, P., additional, Rashidi, F., additional, Abenante, A., additional, Barillari, G., additional, Basaglia, M., additional, Bilora, F., additional, Bissacco, D., additional, Bortoluzzi, C., additional, Brandolin, B., additional, Casana, R., additional, Ciammaichella, M., additional, Colaizzo, D., additional, Dentali, F., additional, Di Micco, P., additional, Grandone, E., additional, Imbalzano, E., additional, Lambertenghi-Deliliers, D., additional, Negro, F., additional, Pesavento, R., additional, Poz, A., additional, Prandoni, P., additional, Scarinzi, P., additional, Siniscalchi, C., additional, Taflaj, B., additional, Tufano, A., additional, Visonà, A., additional, Vo Hong, N., additional, Zalunardo, B., additional, Paluga, R., additional, Skride, A., additional, Kigitovica, D., additional, Fonseca, S., additional, Marques, R., additional, Meireles, J., additional, Pinto, S., additional, Bosevski, M., additional, Trajkova, M., additional, Zdraveska, M., additional, Bounameaux, H., additional, Mazzolai, L., additional, Aujayeb, A., additional, Caprini, J.A., additional, Weinberg, I., additional, and Bui, H.M., additional

Published
2024
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30. An artificial neural network approach integrating plasma proteomics and genetic data identifies PLXNA4 as a new susceptibility locus for pulmonary embolism

Author

Razzaq, Misbah, Iglesias, Maria Jesus, Ibrahim-Kosta, Manal, Goumidi, Louisa, Soukarieh, Omar, Proust, Carole, Roux, Maguelonne, Suchon, Pierre, Boland, Anne, Daiain, Delphine, Olaso, Robert, Havervall, Sebastian, Thalin, Charlotte, Butler, Lynn, Deleuze, Jean-François, Odeberg, Jacob, Morange, Pierre-Emmanuel, and Trégouët, David-Alexandre

Published
2021
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31. Venous thromboembolism characteristics and outcomes among RIETE patients tested and untested for inherited thrombophilia

Author

Cohen, Omri, Waldman Radinsky, Liat, Kenet, Gili, Mahé, Isabelle, Barillari, Giovanni, Soler, Silvia, Sigüenza, Patricia, Del Valle Morales, María, Villares, Paula, Monreal, Manuel, Adarraga, MD, Alberich-Conesa, A, Aibar, J, Alda-Lozano, A, Alfonso, J, Amado, C, Angelina-García, M, Arcelus, JI, Ballaz, A, Barba, R, Barbagelata, C, Barrón, M, Barrón-Andrés, B, Beddar-Chaib, F, Blanco-Molina, A, Caballero, JC, Castellanos, G, Criado, J, De Ancos, C, Del Toro, J, Demelo-Rodríguez, P, De Juana-Izquierdo, C, Díaz-Peromingo, JA, Dubois-Silva, A, Escribano, JC, Falgá, C, Farfán-Sedano, AI, Fernández-Aracil, C, Fernández-Capitán, C, Fernández-Jiménez, B, Fernández-Reyes, JL, Fidalgo, MA, Francisco, I, Gabara, C, Galeano-Valle, F, García-Bragado, F, García-Ortega, A, Gavín-Sebastián, O, Gil-Díaz, A, Gómez-Cuervo, C, González-García, C, González-Munera, A, Grau, E, Guirado, L, Gutiérrez-Guisado, J, Hernández-Blasco, L, Herreros, M, Jara-Palomares, L, Jaras, MJ, Jiménez, D, Jou, I, Joya, MD, Lecumberri, R, Llamas, P, Lobo, JL, López-Jiménez, L, López-Miguel, P, López-Brull, H, López-Núñez, JJ, López-Ruiz, A, López-Sáez, JB, Lorenzo, A, Lumbierres, M, Madridano, O, Maestre, A, Marchena, PJ, Marcos, M, Martín del Pozo, M, Martín-Martos, F, Martínez-Prado, R, Maza, JM, Mena, E, Mercado, MI, Moisés, J, Molino, A, Monreal, M, Morales, MV, Navas, MS, Nieto, JA, Núñez-Fernández, MJ, Olid, M, Ordieres-Ortega, L, Ortiz, M, Osorio, J, Otálora, S, Otero, R, Pacheco-Gómez, N, Pagán, J, Palomeque, AC, Paredes, E, Parra-Caballero, P, Pedrajas, JM, Pérez-Ductor, C, Pérez-Pinar, M, Peris, ML, Pesce, ML, Porras, JA, Puchades, R, Rivera-Cívico, F, Rodríguez-Cobo, A, Romero-Brugera, M, Ruiz-Artacho, P, Ruiz-Giménez, N, Ruiz-Ruiz, J, Salgueiro, G, Sancho, T, Sendín, V, Sigüenza, P, Soler, S, Steinherr, A, Suárez-Fernández, S, Tirado, R, Torrents-Vilar, A, Torres, MI, Trujillo-Santos, J, Uresandi, F, Valle, R, Varona, JF, Villalobos, A, Villares, P, Ay, C, Nopp, S, Pabinger, I, Vanassche, T, Verhamme, P, Verstraete, A, Yoo, HHB, Montenegro, AC, Morales, SN, Roa, J, Hirmerova, J, Malý, R, Bertoletti, L, Bura-Riviere, A, Catella, J, Chopard, R, Couturaud, F, Espitia, O, Grange, C, Le Mao, R, Leclercq, B, Mahé, I, Morange, P, Moustafa, F, Plaisance, L, Sarlon-Bartoli, G, Suchon, P, Versini, E, Schellong, S, Brenner, B, Dally, N, Kenet, G, Tzoran, I, Sadeghipour, P, Rashidi, F, Abenante, A, Barillari, G, Basaglia, M, Bertoni, M, Bilora, F, Brandolin, B, Ciammaichella, M, Colaizzo, D, Dentali, F, Di Micco, P, Grandone, E, Imbalzano, E, Negro, F, Pesavento, R, Poz, A, Prandoni, P, Siniscalchi, C, Taflaj, B, Tufano, A, Visonà, A, Zalunardo, B, Skride, A, Kigitovica, D, Zicans, M, Fonseca, S, Marques, R, Meireles, J, Pinto, S, Bosevski, M, Trajkova, M, Zdraveska, M, Bounameaux, H, Mazzolai, L, Aujayeb, A, Caprini, JA, Weinberg, I, and Bui, HM

Abstract

•In a RIETE registry analysis of 103 818 patients with VTE, 20.3% were tested for IT, showing a substantial variance in outcomes.•A thoughtful IT testing approach should consider patients’ VTE risk factors and comorbidities.

Published
2024
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32. A prognostic score to identify women at increased risk for abnormal uterine bleeding during anticoagulation for venous thromboembolism

Author

Sarlon-Bartoli, Gabrielle, primary, Criado, Juan, additional, Middeldorp, Saskia, additional, Nieto, José Antonio, additional, Díaz-Pedroche, María del Carmen, additional, Moustafa, Farès, additional, Ruiz-Giménez, Nuria, additional, Brenner, Benjamin, additional, Monreal, Manuel, additional, DI Micco, Pierpaolo, additional, Prandoni, Paolo, additional, Farge-Bancel, Dominique, additional, Barba, Raquel, additional, Di Micco, Pierpaolo, additional, Bertoletti, Laurent, additional, Schellong, Sebastian, additional, Tzoran, Inna, additional, Reis, Abilio, additional, Bosevski, Marijan, additional, Bounameaux, Henri, additional, Malý, Radovan, additional, Verhamme, Peter, additional, Caprini, Joseph A., additional, Bui, Hanh My, additional, Adarraga, M.D., additional, Agudo, P., additional, Amado, C., additional, Arcelus, J.I., additional, Ballaz, A., additional, Bascuñana, J., additional, Barba, R., additional, Barbagelata, C., additional, Barrón, M., additional, Barrón-Andrés, B., additional, Blanco-Molina, A., additional, Beddar Chaib, F., additional, Botella, E., additional, Cañas, I., additional, Carrero-Arribas, R., additional, Casado, I., additional, Cerdá, P., additional, Chasco, L., additional, Criado, J., additional, de Ancos, C., additional, de Miguel, J., additional, del Toro, J., additional, Demelo-Rodríguez, P., additional, Díaz-Brasero, A.M., additional, Díaz-Pedroche, M.C., additional, Díaz-Peromingo, J.A., additional, Domínguez, I.M., additional, Dubois-Silva, A., additional, Escribano, J.C., additional, Espósito, F., additional, Farfán-Sedano, A.I., additional, Falgá, C., additional, Fernández-Capitán, C., additional, Fernández-Jiménez, B., additional, Fernández-Muixi, J., additional, Fernández-Reyes, J.L., additional, Font, C., additional, Francisco, I., additional, Galeano-Valle, F., additional, García, M.A., additional, García-Bragado, F., additional, García de Herreros, M., additional, Gavín-Blanco, O., additional, Gil-Díaz, A., additional, Gómez-Cuervo, C., additional, Gómez-Mosquera, A.M., additional, Gonzalez-Moreno, M., additional, Grau, E., additional, Guirado, L., additional, Gutiérrez, J., additional, Hernández-Blasco, L., additional, Jara-Palomares, L., additional, Jaras, M.J., additional, Jiménez, D., additional, Jou, I., additional, Joya, M.D., additional, Lacruz, B., additional, Lainez-Justo, S., additional, A, Latorre, additional, J, Lima, additional, Jl, Lobo, additional, López-De la Fuente, M., additional, López-Jiménez, L., additional, López-Meseguer, M., additional, López-Miguel, P., additional, López-Núñez, J.J., additional, López-Reyes, R., additional, López-Sáez, J.B., additional, Lorente, M.A., additional, Lorenzo, A., additional, Madridano, O., additional, Maestre, A., additional, Marchena, P.J., additional, Martín-Guerra, J.M., additional, Martín-Martos, F., additional, Mellado, M., additional, Mena, E., additional, Moisés, J., additional, Mercado, M.I., additional, Monreal, M., additional, Muñoz-Blanco, A., additional, Muñoz-Gamito, G., additional, Morales, M.V., additional, Nieto, J.A., additional, Noguera-Gras, E., additional, Núñez-Fernández, M.J., additional, Olid-Velilla, M., additional, Osorio, J., additional, Otalora, S., additional, Otero, R., additional, Paredes-Ruiz, D., additional, Parra, P., additional, Parra, V., additional, Pedrajas, J.M., additional, Pérez-López, M., additional, Peris, M.L., additional, Pesce, M.L., additional, Porras, J.A., additional, Poyo-Molina, J., additional, Puchades, R., additional, Riera-Mestre, A., additional, Rivera-Civico, F., additional, Rivera-Gallego, A., additional, Roca, M., additional, Rosa, V., additional, Rodríguez-Cobo, A., additional, Rodríguez-Matute, C., additional, Ruiz-Artacho, P., additional, Ruiz-Giménez, N., additional, Ruiz-Ruiz, J., additional, Salgueiro, G., additional, Sancho, T., additional, Sendín, V., additional, Sigüenza, P., additional, Soler, S., additional, Suárez-Rodríguez, B., additional, Suriñach, J.M., additional, Tiberio, G., additional, Torres, M.I., additional, Torres-Sánchez, A., additional, Trujillo-Santos, J., additional, Uresandi, F., additional, Usandizaga, E., additional, Valle, R., additional, Varona, J.F., additional, Vela, L., additional, Vela, J.R., additional, Villalobos, A., additional, Villares, P., additional, Ay, C., additional, Nopp, S., additional, Pabinger, I., additional, Engelen, M.M., additional, Martens, C., additional, Verhamme, P., additional, Yoo, H.H.B., additional, Arguello, J.D., additional, Montenegro, A.C., additional, Roa, J., additional, Hirmerova, J., additional, Malý, R., additional, Accassat, S., additional, Bertoletti, L., additional, Bura-Riviere, A., additional, Catella, J., additional, Chopard, R., additional, Couturaud, F., additional, Espitia, O., additional, El Harake, S., additional, Le Mao, R., additional, Mahé, I., additional, Moustafa, F., additional, Plaisance, L., additional, Sarlon-Bartoli, G., additional, Suchon, P., additional, Versini, E., additional, Schellong, S., additional, Braester, A., additional, Brenner, B., additional, Kenet, G., additional, Tzoran, I., additional, Sadeghipour, P., additional, Basaglia, M., additional, Bilora, F., additional, Bortoluzzi, C., additional, Brandolin, B., additional, Ciammaichella, M., additional, De Angelis, A., additional, Dentali, F., additional, Di Micco, P., additional, Imbalzano, E., additional, Merla, S., additional, Pesavento, R., additional, Prandoni, P., additional, Siniscalchi, C., additional, Tufano, A., additional, Visonà, A., additional, Vo Hong, N., additional, Zalunardo, B., additional, Kigitovica, D., additional, Rusa, E., additional, Skride, A., additional, Fonseca, S., additional, Manuel, M., additional, Meireles, J., additional, Bosevski, M., additional, Eftimova, A., additional, Zdraveska, M., additional, Bounameaux, H., additional, Mazzolai, L., additional, Aujayeb, A., additional, Caprini, J.A., additional, Weinberg, I., additional, and Bui, H.M., additional

Published
2023
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33. Targeted sequencing to identify novel genetic risk factors for deep vein thrombosis: a study of 734 genes

Author

de Haan, H.G., van Hylckama Vlieg, A., Lotta, L.A., Gorski, M.M., Bucciarelli, P., Martinelli, I., Baglin, T.P., Peyvandi, F., Rosendaal, F.R., Amouyel, P., de Andrade, M., Basu, S., Berr, C., Brody, J.A., Chasman, D. I, Dartigues, J.‐F., Folsom, A.R., Germain, M., Heit, J., Houwing‐Duitermaat, J., Kabrhel, C., Kraft, P., Le Gal, G., Lindström, S., Monajemi, R., Morange, P.‐E., Psaty, B.M., Reitsma, P.H., Ridker, P.M., Rose, L.M., Saut, N., Slagboom, E., Smadja, D., Smith, N.L., Suchon, P., Tang, W., Taylor, K.D., Trégouët, D.‐A., Tzourio, C., de Visser, M.C.H., Weng, L.‐C., and Wiggins, K.L.

Published
2018
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35. Demographic and Behavioral Correlates of HIV Risk among Men and Transgender Women Recruited from Gay Entertainment Venues and Community-based Organizations in Thailand: Implications for HIV Prevention

Author

Newman, Peter A, Lee, Sung-Jae, Roungprakhon, Surachet, and Tepjan, Suchon

Subjects
Health Services, Behavioral and Social Science, Pediatric AIDS, Prevention, Sexual and Gender Minorities (SGM/LGBT*), Pediatric, HIV/AIDS, Infectious Diseases, Clinical Research, Prevention of disease and conditions, and promotion of well-being, 3.1 Primary prevention interventions to modify behaviours or promote wellbeing, Infection, Good Health and Well Being, Adult, Demography, Female, HIV Infections, Homosexuality, Male, Humans, Male, Risk-Taking, Thailand, Transsexualism, Men who have sex with men, Transgender women, HIV, Sexual risk behaviors, Public Health and Health Services, Substance Abuse
Abstract

High HIV prevalence among men who have sex with men (MSM) and transgender women in Thailand suggest a vital need for targeted interventions. We conducted a cross-sectional survey to examine and compare sexual risk behaviors, and demographic and behavioral correlates of risk, among MSM and transgender women recruited from gay entertainment venue staff and community-based organization (CBO) participants. We used venue-based sampling across nine sites in Bangkok and Chiang Mai. Among 260 participants (57.3% gay-identified, 26.9% heterosexual/bisexual-identified, 15.8% transgender; mean age = 26.7 years), nearly one-fifth (18.5%) reported unprotected anal sex (UAS), half (50.4%) sex in exchange for money, and one-fifth (20.0%) STI diagnosis (past year). Nearly one-fourth (23.1%) reported oral erectile dysfunction medication use and nearly one-fifth (19.2%) illicit drug use (past 3 months). Overall, 43.1% indicated that healthcare providers exhibited hostility towards them. Gay entertainment venue staff were significantly more likely to self-identify as heterosexual/bisexual (versus gay or transgender female), and to have less than high school degree education, higher monthly income, to have engaged in sex in exchange for money, sex with women and unprotected vaginal sex, but were significantly less likely to have engaged in UAS than CBO participants. Targeted interventions for younger MSM and transgender women, for non gay-identified men, and strategies to address structural determinants of risk, including low education and discrimination from healthcare providers, may support HIV prevention among MSM and transgender women, and serve broader national HIV prevention efforts in Thailand.

Published
2012

36. Venous thromboembolism characteristics, treatment and outcomes in young adults: findings from the Registro Informatizado de Enfermedad TromboEmbólica registry

Author

Cohen, Omri, primary, Barg, Assaf A., additional, Nowak-Göttl, Ulrike, additional, Amado-Fernández, Cristina, additional, Mazzolai, Lucia, additional, Tiberio, Gregorio, additional, Schellong, Sebastian, additional, Skride, Andris, additional, Morales, María del Valle, additional, Monreal, Manuel, additional, Kenet, Gili, additional, Prandoni, Paolo, additional, Brenner, Benjamin, additional, Farge-Bancel, Dominique, additional, Barba, Raquel, additional, Di Micco, Pierpaolo, additional, Bertoletti, Laurent, additional, Tzoran, Inna, additional, Reis, Abilio, additional, Bosevski, Marijan, additional, Bounameaux, Henri, additional, Malý, Radovan, additional, Verhamme, Peter, additional, Caprini, Joseph A., additional, Bui, Hanh My, additional, Adarraga, M.D., additional, Alberich-Conesa, A., additional, Alonso-Carrillo, J., additional, Amado, C., additional, Amorós, S., additional, Arcelus, J.I., additional, Ballaz, A., additional, Barba, R., additional, Barbagelata, C., additional, Barrón, M., additional, Barrón-Andrés, B., additional, Blanco-Molina, A., additional, Botella, E., additional, Casado, I., additional, Chasco, L., additional, Cerdà, P., additional, Criado, J., additional, del Toro, J., additional, De Juana-Izquierdo, C., additional, Demelo-Rodríguez, P., additional, Díaz-Brasero, A.M., additional, Díaz-Pedroche, M.C., additional, Díaz-Peromingo, J.A., additional, Dubois-Silva, A., additional, Escribano, J.C., additional, Espósito, F., additional, Falgá, C., additional, Fernández-Capitán, C., additional, Fernández-Jiménez, B., additional, Fernández-Muixi, J., additional, Fernández-Reyes, J.L., additional, Fidalgo, M.A., additional, Font, C., additional, Francisco, I., additional, Galeano-Valle, F., additional, García, M.A., additional, García de Herreros, M., additional, García-Bragado, F., additional, García-Ortega, A., additional, Gavín-Sebastián, O., additional, Gil-Díaz, A., additional, Gómez-Cuervo, C., additional, Gómez-Mosquera, A.M., additional, González-Martínez, J., additional, González-Moreno, M., additional, Grau, E., additional, Guirado, L., additional, Gutiérrez, J., additional, Hernández-Blasco, L., additional, Jaras, M.J., additional, Jiménez, D., additional, Jou, I., additional, Joya, M.D., additional, Lacruz, B., additional, Lainez-Justo, S., additional, Lalueza, A., additional, Latorre, A., additional, Lecumberri, R., additional, Lobo, J.L., additional, López-De la Fuente, M., additional, López-Jiménez, L., additional, López-Miguel, P., additional, López-Núñez, J.J., additional, López-Ruiz, A., additional, López-Sáez, J.B., additional, Lorenzo, A., additional, Lumbierres, M., additional, Madridano, O., additional, Maestre, A., additional, Marcos, M., additional, Martín-Martos, F., additional, Mellado, M., additional, Mena, E., additional, Mercado, M.I., additional, Moisés, J., additional, Monreal, M., additional, Muñoz-Blanco, A., additional, Muñoz-Gamito, G., additional, Morales, M.V., additional, Nieto, J.A., additional, Noguera-Gras, E., additional, Núñez-Fernández, M.J., additional, Osorio, J., additional, Otalora, S., additional, Pacheco-Gómez, N., additional, Paredes-Ruiz, D., additional, Parra, P., additional, Pedrajas, J.M., additional, Pérez-Ductor, C., additional, Pérez-Jacoiste, M.A., additional, Pérez-Pérez, J.L., additional, Peris, M.L., additional, Porras, J.A., additional, Poyo-Molina, J., additional, Puchades, R., additional, Riera-Mestre, A., additional, Rivera-Civico, F., additional, Rivera-Gallego, A., additional, Roca, M., additional, Rosa, V., additional, Rodríguez-Cobo, A., additional, Ruiz-Giménez, N., additional, Salgueiro, G., additional, Sancho, T., additional, Sendín, V., additional, Sigüenza, P., additional, Soler, S., additional, Suriñach, J.M., additional, Tiberio, G., additional, Torres, M.I., additional, Trujillo-Santos, J., additional, Uresandi, F., additional, Usandizaga, E., additional, Valle, R., additional, Varona, J.F., additional, Vela, L., additional, Vela, J.R., additional, Villalobos, A., additional, Villares, P., additional, Ay, C., additional, Nopp, S., additional, Pabinger, I., additional, Engelen, M.M., additional, Martens, C., additional, Verhamme, P., additional, Yoo, H.H.B., additional, Arguello, J.D., additional, Montenegro, A.C., additional, Roa, J., additional, Hirmerova, J., additional, Malý, R., additional, Accassat, S., additional, Bertoletti, L., additional, Bura-Riviere, A., additional, Catella, J., additional, Chopard, R., additional, Couturaud, F., additional, Espitia, O., additional, Leclercq, B., additional, Le Mao, R., additional, Mahé, I., additional, Moustafa, F., additional, Plaisance, L., additional, Poenou, G., additional, Sarlon-Bartoli, G., additional, Suchon, P., additional, Versini, E., additional, Schellong, S., additional, Braester, A., additional, Brenner, B., additional, Kenet, G., additional, Tzoran, I., additional, Sadeghipour, P., additional, Basaglia, M., additional, Bilora, F., additional, Bortoluzzi, C., additional, Brandolin, B., additional, Ciammaichella, M., additional, Colaizzo, D., additional, De Angelis, A., additional, Dentali, F., additional, Di Micco, P., additional, Grandone, E., additional, Imbalzano, E., additional, Merla, S., additional, Pesavento, R., additional, Prandoni, P., additional, Scarinzi, P., additional, Siniscalchi, C., additional, Tufano, A., additional, Visonà, A., additional, Vo Hong, N., additional, Zalunardo, B., additional, Gibietis, V., additional, Kigitovica, D., additional, Skride, A., additional, Fonseca, S., additional, Manuel, M., additional, Meireles, J., additional, Bosevski, M., additional, Bounameaux, H., additional, Mazzolai, L., additional, Aujayeb, A., additional, Caprini, J.A., additional, Weinberg, I., additional, and Bui, H.M., additional

Published
2023
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42. Cross-ancestry investigation of venousc genomic predictors

Author

Thibord, F., Klarin, D., Brody, J.A., Chen, M.H., Levin, M.G., Chasman, D.I., Goode, E.L., Hveem, K., Teder-Laving, M., Martinez-Perez, A., Aissi, D., Daian-Bacq, D., Ito, K., Natarajan, P., Lutsey, P.L., Nadkarni, G.N., Vries, P.S. de, Cuellar-Partida, G., Wolford, B.N., Pattee, J.W., Kooperberg, C., Braekkan, S.K., Li-Gao, R.F., Saut, N., Sept, C., Germain, M., Judy, R.L., Wiggins, K.L., Ko, D., O'Donnell, C.J., Taylor, K.D., Giulianini, F., Andrade, M. de, Nost, T.H., Boland, A., Empana, J.P., Koyama, S., Gilliland, T., R. do, Huffman, J.E., Wang, X., Zhou, W., Soria, J.M., Souto, J.C., Pankratz, N., Haessler, J., Hindberg, K., Rosendaal, F.R., Turman, C., Olaso, R., Kember, R.L., Bartz, T.M., Lynch, J.A., Heckbert, S.R., Armasu, S.M., Brumpton, B., Smadja, D.M., Jouven, X., Komuro, I., Clapham, K.R., Loos, R.J.F., Willer, C.J., Sabater-Lleal, M., Pankow, J.S., Reiner, A.P., Morelli, V.M., Ridker, P.M., Vlieg, A.V., Deleuze, J.F., Kraft, P., Rader, D.J., Lee, K.M., Psaty, B.M., Skogholt, A.H., Emmerich, J., Suchon, P., Rich, S.S., Vy, H.T., Tang, W.H., Jackson, R.D., Hansen, J.B., Morange, P.E., Kabrhel, C., Tregouet, D.A., Damrauer, S.M., Johnson, A.D., and Smith, N.L.

Subjects
meta-analysis, genome-wide association study, venous thromboembolism, genetics, venous thrombosis
Abstract

Background: Venous thromboembolism (VTE) is a life-threatening vascular event with environmental and genetic determinants. Recent VTE genome-wide association studies (GWAS) meta-analyses involved nearly 30 000 VTE cases and identified up to 40 genetic loci associated with VTE risk, including loci not previously suspected to play a role in hemostasis. The aim of our research was to expand discovery of new genetic loci associated with VTE by using cross-ancestry genomic resources. Methods: We present new cross-ancestry meta-analyzed GWAS results involving up to 81 669 VTE cases from 30 studies, with replication of novel loci in independent populations and loci characterization through in silico genomic interrogations. Results: In our genetic discovery effort that included 55 330 participants with VTE (47 822 European, 6320 African, and 1188 Hispanic ancestry), we identified 48 novel associations, of which 34 were replicated after correction for multiple testing. In our combined discovery-replication analysis (81 669 VTE participants) and ancestry-stratified meta-analyses (European, African, and Hispanic), we identified another 44 novel associations, which are new candidate VTE-associated loci requiring replication. In total, across all GWAS meta-analyses, we identified 135 independent genomic loci significantly associated with VTE risk. A genetic risk score of the significantly associated loci in Europeans identified a 6-fold increase in risk for those in the top 1% of scores compared with those with average scores. We also identified 31 novel transcript associations in transcriptome-wide association studies and 8 novel candidate genes with protein quantitative-trait locus Mendelian randomization analyses. In silico interrogations of hemostasis and hematology traits and a large phenome-wide association analysis of the 135 GWAS loci provided insights to biological pathways contributing to VTE, with some loci contributing to VTE through well-characterized coagulation pathways and others providing new data on the role of hematology traits, particularly platelet function. Many of the replicated loci are outside of known or currently hypothesized pathways to thrombosis. Conclusions: Our cross-ancestry GWAS meta-analyses identified new loci associated with VTE. These findings highlight new pathways to thrombosis and provide novel molecules that may be useful in the development of improved antithrombosis treatments.

Published
2022

47. Stroke genetics informs drug discovery and risk prediction across ancestries

Author

Mishra, A, Malik, R, Hachiya, T, Jurgenson, T, Namba, S, Posner, DC, Kamanu, FK, Koido, M, Le Grand, Q, Shi, M, He, Y, Georgakis, MK, Caro, I, Krebs, K, Liaw, Y-C, Vaura, FC, Lin, K, Winsvold, BS, Srinivasasainagendra, V, Parodi, L, Bae, H-J, Chauhan, G, Chong, MR, Tomppo, L, Akinyemi, R, Roshchupkin, GV, Habib, N, Jee, YH, Thomassen, JQ, Abedi, V, Carcel-Marquez, J, Nygaard, M, Leonard, HL, Yang, C, Yonova-Doing, E, Knol, MJ, Lewis, AJ, Judy, RL, Ago, T, Amouyel, P, Armstrong, ND, Bakker, MK, Bartz, TM, Bennett, DA, Bis, JC, Bordes, C, Borte, S, Cain, A, Ridker, PM, Cho, K, Chen, Z, Cruchaga, C, Cole, JW, de Jager, PL, de Cid, R, Endres, M, Ferreira, LE, Geerlings, MI, Gasca, NC, Gudnason, V, Hata, J, He, J, Heath, AK, Ho, Y-L, Havulinna, AS, Hopewell, JC, Hyacinth, HI, Inouye, M, Jacob, MA, Jeon, CE, Jern, C, Kamouchi, M, Keene, KL, Kitazono, T, Kittner, SJ, Konuma, T, Kumar, A, Lacaze, P, Launer, LJ, Lee, K-J, Lepik, K, Li, J, Li, L, Manichaikul, A, Markus, HS, Marston, NA, Meitinger, T, Mitchell, BD, Montellano, FA, Morisaki, T, Mosley, TH, Nalls, MA, Nordestgaard, BG, O'Donnell, MJ, Okada, Y, Onland-Moret, NC, Ovbiagele, B, Peters, A, Psaty, BM, Rich, SS, Rosand, J, Sabatine, MS, Sacco, RL, Saleheen, D, Sandset, EC, Salomaa, V, Sargurupremraj, M, Sasaki, M, Satizabal, CL, Schmidt, CO, Shimizu, A, Smith, NL, Sloane, KL, Sutoh, Y, Sun, YV, Tanno, K, Tiedt, S, Tatlisumak, T, Torres-Aguila, NP, Tiwari, HK, Tregouet, D-A, Trompet, S, Tuladhar, AM, Tybjaerg-Hansen, A, van Vugt, M, Vibo, R, Verma, SS, Wiggins, KL, Wennberg, P, Woo, D, Wilson, PWF, Xu, H, Yang, Q, Yoon, K, Millwood, IY, Gieger, C, Ninomiya, T, Grabe, HJ, Jukema, JW, Rissanen, IL, Strbian, D, Kim, YJ, Chen, P-H, Mayerhofer, E, Howson, JMM, Irvin, MR, Adams, H, Wassertheil-Smoller, S, Christensen, K, Ikram, MA, Rundek, T, Worrall, BB, Lathrop, GM, Riaz, M, Simonsick, EM, Korv, J, Franca, PHC, Zand, R, Prasad, K, Frikke-Schmidt, R, de Leeuw, F-E, Liman, T, Haeusler, KG, Ruigrok, YM, Heuschmann, PU, Longstreth, WT, Jung, KJ, Bastarache, L, Pare, G, Damrauer, SM, Chasman, DI, Rotter, JI, Anderson, CD, Zwart, J-A, Niiranen, TJ, Fornage, M, Liaw, Y-P, Seshadri, S, Fernandez-Cadenas, I, Walters, RG, Ruff, CT, Owolabi, MO, Huffman, JE, Milani, L, Kamatani, Y, Dichgans, M, Debette, S, Lee, J-M, Cheng, Y-C, Meschia, JF, Chen, WM, Sale, MM, Zonderman, AB, Evans, MK, Wilson, JG, Correa, A, Traylor, M, Lewis, CM, Reiner, A, Haessler, J, Langefeld, CD, Gottesman, RF, Yaffe, K, Liu, YM, Kooperberg, C, Lange, LA, Furie, KL, Arnett, DK, Benavente, OR, Grewal, RP, Peddareddygari, LR, Hveem, K, Lindstrom, S, Wang, L, Smith, EN, Gordon, W, Vlieg, AVH, de Andrade, M, Brody, JA, Pattee, JW, Brumpton, BM, Suchon, P, Chen, M-H, Frazer, KA, Turman, C, Germain, M, MacDonald, J, Braekkan, SK, Armasu, SM, Pankratz, N, Jackson, RD, Nielsen, JB, Giulianin, F, Puurunen, MK, Ibrahim, M, Heckbert, SR, Bammler, TK, McCauley, BM, Taylor, KD, Pankow, JS, Reiner, AP, Gabrielsen, ME, Deleuze, J-F, O'Donnell, CJ, Kim, J, McKnight, B, Kraft, P, Hansen, J-B, Rosendaal, FR, Heit, JA, Tang, W, Morange, P-E, Johnson, AD, Kabrhel, C, van Dijk, EJ, Koudstaal, PJ, Luijckx, G-J, Nederkoorn, PJ, van Oostenbrugge, RJ, Visser, MC, Wermer, MJH, Kappelle, LJ, Esko, T, Metspalu, A, Magi, R, Nelis, M, Levi, CR, Maguire, J, Jimenez-Conde, J, Sharma, P, Sudlow, CLM, Rannikmae, K, Schmidt, R, Slowik, A, Pera, J, Thijs, VNS, Lindgren, AG, Ilinca, A, Melander, O, Engstrom, G, Rexrode, KM, Rothwell, PM, Stanne, TM, Johnson, JA, Danesh, J, Butterworth, AS, Heitsch, L, Boncoraglio, GB, Kubo, M, Pezzini, A, Rolfs, A, Giese, A-K, Weir, D, Ross, OA, Lemmons, R, Soderholm, M, Cushman, M, Jood, K, McDonough, CW, Bell, S, Linkohr, B, Lee, T-H, Putaala, J, Lopez, OL, Carty, CL, Jian, X, Schminke, U, Cullell, N, Delgado, P, Ibanez, L, Krupinski, J, Lioutas, V, Matsuda, K, Montaner, J, Muino, E, Roquer, J, Sarnowski, C, Sattar, N, Sibolt, G, Teumer, A, Rutten-Jacobs, L, Kanai, M, Gretarsdottir, S, Rost, NS, Yusuf, S, Almgren, P, Ay, H, Bevan, S, Brown, RD, Carrera, C, Buring, JE, Chen, W-M, Cotlarciuc, I, de Bakker, PIW, DeStefano, AL, den Hoed, M, Duan, Q, Engelter, ST, Falcone, GJ, Gustafsson, S, Hassan, A, Holliday, EG, Howard, G, Hsu, F-C, Ingelsson, E, Harris, TB, Kissela, BM, Kleindorfer, DO, Langenberg, C, Leys, D, Lin, W-Y, Lorentzen, E, Magnusson, PK, McArdle, PF, Pulit, SL, Rice, K, Sakaue, S, Sapkota, BR, Tanislav, C, Thorleifsson, G, Thorsteinsdottir, U, Tzourio, C, van Duijn, CM, Walters, M, Wareham, NJ, Amin, N, Aparicio, HJ, Attia, J, Beiser, AS, Berr, C, Bustamante, M, Caso, V, Choi, SH, Chowhan, A, Dartigues, J-F, Delavaran, H, Dorr, M, Ford, I, Gurpreet, WS, Hamsten, A, Hozawa, A, Ingelsson, M, Iwasaki, M, Kaffashian, S, Kalra, L, Kjartansson, O, Kloss, M, Labovitz, DL, Laurie, CC, Lind, L, Lindgren, CM, Makoto, H, Minegishi, N, Morris, AP, Mueller-Nurasyid, M, Norrving, B, Ogishima, S, Parati, EA, Pedersen, NL, Perola, M, Jousilahti, P, Pileggi, S, Rabionet, R, Riba-Llena, I, Ribases, M, Romero, JR, Rudd, AG, Sarin, A-P, Sarju, R, Satoh, M, Sawada, N, Sigurdsson, A, Smith, A, Stine, OC, Stott, DJ, Strauch, K, Takai, T, Tanaka, H, Touze, E, Tsugane, S, Uitterlinden, AG, Valdimarsson, EM, van der Lee, SJ, Wakai, K, Williams, SR, Wolfe, CDA, Wong, Q, Yamaji, T, Sanghera, DK, Stefansson, K, Martinez-Majander, N, Sobue, K, Soriano-Tarraga, C, Volzke, H, Akpa, O, Sarfo, FS, Akpalu, A, Obiako, R, Wahab, K, Osaigbovo, G, Owolabi, L, Komolafe, M, Jenkins, C, Arulogun, O, Ogbole, G, Adeoye, AM, Akinyemi, J, Agunloye, A, Fakunle, AG, Uvere, E, Olalere, A, Adebajo, OJ, Chen, J, Clarke, R, Collins, R, Guo, Y, Wang, C, Lv, J, Peto, R, Chen, Y, Fairhurst-Hunter, Z, Hill, M, Pozarickij, A, Schmidt, D, Stevens, B, Turnbull, I, Yu, C, Nagai, A, Murakami, Y, Shiroma, EJ, Sigurdsson, S, Ghanbari, M, Boerwinkle, E, Fongang, B, Wang, R, Ikram, MK, Volker, U, de Laat, KF, van Norden, AGW, de Kort, PL, Vermeer, SE, Brouwers, PJAM, Gons, RAR, den Heijer, T, van Dijk, GW, van Rooij, FGW, Aamodt, AH, Skogholt, AH, Willer, CJ, Heuch, I, Hagen, K, Fritsche, LG, Pedersen, LM, Ellekjaer, H, Zhou, W, Martinsen, AE, Kristoffersen, ES, Thomas, LF, Kleinschnitz, C, Frantz, S, Ungethum, K, Gallego-Fabrega, C, Lledos, M, Llucia-Carol, L, Sobrino, T, Campos, F, Castillo, J, Freijo, M, Arenillas, JF, Obach, V, Alvarez-Sabin, J, Molina, CA, Ribo, M, Munoz-Narbona, L, Lopez-Cancio, E, Millan, M, Diaz-Navarro, R, Vives-Bauza, C, Serrano-Heras, G, Segura, T, Dhar, R, Delgado-Mederos, R, Prats-Sanchez, L, Camps-Renom, P, Blay, N, Sumoy, L, Marti-Fabregas, J, Schnohr, P, Jensen, GB, Benn, M, Afzal, S, Kamstrup, PR, van Setten, J, van der Laan, SW, Vonk, JMJ, Kim, B-J, Curtze, S, Tiainen, M, Kinnunen, J, Menon, V, Sung, YJ, Saillour-Glenisson, F, Gravel, S, Mishra, A, Malik, R, Hachiya, T, Jurgenson, T, Namba, S, Posner, DC, Kamanu, FK, Koido, M, Le Grand, Q, Shi, M, He, Y, Georgakis, MK, Caro, I, Krebs, K, Liaw, Y-C, Vaura, FC, Lin, K, Winsvold, BS, Srinivasasainagendra, V, Parodi, L, Bae, H-J, Chauhan, G, Chong, MR, Tomppo, L, Akinyemi, R, Roshchupkin, GV, Habib, N, Jee, YH, Thomassen, JQ, Abedi, V, Carcel-Marquez, J, Nygaard, M, Leonard, HL, Yang, C, Yonova-Doing, E, Knol, MJ, Lewis, AJ, Judy, RL, Ago, T, Amouyel, P, Armstrong, ND, Bakker, MK, Bartz, TM, Bennett, DA, Bis, JC, Bordes, C, Borte, S, Cain, A, Ridker, PM, Cho, K, Chen, Z, Cruchaga, C, Cole, JW, de Jager, PL, de Cid, R, Endres, M, Ferreira, LE, Geerlings, MI, Gasca, NC, Gudnason, V, Hata, J, He, J, Heath, AK, Ho, Y-L, Havulinna, AS, Hopewell, JC, Hyacinth, HI, Inouye, M, Jacob, MA, Jeon, CE, Jern, C, Kamouchi, M, Keene, KL, Kitazono, T, Kittner, SJ, Konuma, T, Kumar, A, Lacaze, P, Launer, LJ, Lee, K-J, Lepik, K, Li, J, Li, L, Manichaikul, A, Markus, HS, Marston, NA, Meitinger, T, Mitchell, BD, Montellano, FA, Morisaki, T, Mosley, TH, Nalls, MA, Nordestgaard, BG, O'Donnell, MJ, Okada, Y, Onland-Moret, NC, Ovbiagele, B, Peters, A, Psaty, BM, Rich, SS, Rosand, J, Sabatine, MS, Sacco, RL, Saleheen, D, Sandset, EC, Salomaa, V, Sargurupremraj, M, Sasaki, M, Satizabal, CL, Schmidt, CO, Shimizu, A, Smith, NL, Sloane, KL, Sutoh, Y, Sun, YV, Tanno, K, Tiedt, S, Tatlisumak, T, Torres-Aguila, NP, Tiwari, HK, Tregouet, D-A, Trompet, S, Tuladhar, AM, Tybjaerg-Hansen, A, van Vugt, M, Vibo, R, Verma, SS, Wiggins, KL, Wennberg, P, Woo, D, Wilson, PWF, Xu, H, Yang, Q, Yoon, K, Millwood, IY, Gieger, C, Ninomiya, T, Grabe, HJ, Jukema, JW, Rissanen, IL, Strbian, D, Kim, YJ, Chen, P-H, Mayerhofer, E, Howson, JMM, Irvin, MR, Adams, H, Wassertheil-Smoller, S, Christensen, K, Ikram, MA, Rundek, T, Worrall, BB, Lathrop, GM, Riaz, M, Simonsick, EM, Korv, J, Franca, PHC, Zand, R, Prasad, K, Frikke-Schmidt, R, de Leeuw, F-E, Liman, T, Haeusler, KG, Ruigrok, YM, Heuschmann, PU, Longstreth, WT, Jung, KJ, Bastarache, L, Pare, G, Damrauer, SM, Chasman, DI, Rotter, JI, Anderson, CD, Zwart, J-A, Niiranen, TJ, Fornage, M, Liaw, Y-P, Seshadri, S, Fernandez-Cadenas, I, Walters, RG, Ruff, CT, Owolabi, MO, Huffman, JE, Milani, L, Kamatani, Y, Dichgans, M, Debette, S, Lee, J-M, Cheng, Y-C, Meschia, JF, Chen, WM, Sale, MM, Zonderman, AB, Evans, MK, Wilson, JG, Correa, A, Traylor, M, Lewis, CM, Reiner, A, Haessler, J, Langefeld, CD, Gottesman, RF, Yaffe, K, Liu, YM, Kooperberg, C, Lange, LA, Furie, KL, Arnett, DK, Benavente, OR, Grewal, RP, Peddareddygari, LR, Hveem, K, Lindstrom, S, Wang, L, Smith, EN, Gordon, W, Vlieg, AVH, de Andrade, M, Brody, JA, Pattee, JW, Brumpton, BM, Suchon, P, Chen, M-H, Frazer, KA, Turman, C, Germain, M, MacDonald, J, Braekkan, SK, Armasu, SM, Pankratz, N, Jackson, RD, Nielsen, JB, Giulianin, F, Puurunen, MK, Ibrahim, M, Heckbert, SR, Bammler, TK, McCauley, BM, Taylor, KD, Pankow, JS, Reiner, AP, Gabrielsen, ME, Deleuze, J-F, O'Donnell, CJ, Kim, J, McKnight, B, Kraft, P, Hansen, J-B, Rosendaal, FR, Heit, JA, Tang, W, Morange, P-E, Johnson, AD, Kabrhel, C, van Dijk, EJ, Koudstaal, PJ, Luijckx, G-J, Nederkoorn, PJ, van Oostenbrugge, RJ, Visser, MC, Wermer, MJH, Kappelle, LJ, Esko, T, Metspalu, A, Magi, R, Nelis, M, Levi, CR, Maguire, J, Jimenez-Conde, J, Sharma, P, Sudlow, CLM, Rannikmae, K, Schmidt, R, Slowik, A, Pera, J, Thijs, VNS, Lindgren, AG, Ilinca, A, Melander, O, Engstrom, G, Rexrode, KM, Rothwell, PM, Stanne, TM, Johnson, JA, Danesh, J, Butterworth, AS, Heitsch, L, Boncoraglio, GB, Kubo, M, Pezzini, A, Rolfs, A, Giese, A-K, Weir, D, Ross, OA, Lemmons, R, Soderholm, M, Cushman, M, Jood, K, McDonough, CW, Bell, S, Linkohr, B, Lee, T-H, Putaala, J, Lopez, OL, Carty, CL, Jian, X, Schminke, U, Cullell, N, Delgado, P, Ibanez, L, Krupinski, J, Lioutas, V, Matsuda, K, Montaner, J, Muino, E, Roquer, J, Sarnowski, C, Sattar, N, Sibolt, G, Teumer, A, Rutten-Jacobs, L, Kanai, M, Gretarsdottir, S, Rost, NS, Yusuf, S, Almgren, P, Ay, H, Bevan, S, Brown, RD, Carrera, C, Buring, JE, Chen, W-M, Cotlarciuc, I, de Bakker, PIW, DeStefano, AL, den Hoed, M, Duan, Q, Engelter, ST, Falcone, GJ, Gustafsson, S, Hassan, A, Holliday, EG, Howard, G, Hsu, F-C, Ingelsson, E, Harris, TB, Kissela, BM, Kleindorfer, DO, Langenberg, C, Leys, D, Lin, W-Y, Lorentzen, E, Magnusson, PK, McArdle, PF, Pulit, SL, Rice, K, Sakaue, S, Sapkota, BR, Tanislav, C, Thorleifsson, G, Thorsteinsdottir, U, Tzourio, C, van Duijn, CM, Walters, M, Wareham, NJ, Amin, N, Aparicio, HJ, Attia, J, Beiser, AS, Berr, C, Bustamante, M, Caso, V, Choi, SH, Chowhan, A, Dartigues, J-F, Delavaran, H, Dorr, M, Ford, I, Gurpreet, WS, Hamsten, A, Hozawa, A, Ingelsson, M, Iwasaki, M, Kaffashian, S, Kalra, L, Kjartansson, O, Kloss, M, Labovitz, DL, Laurie, CC, Lind, L, Lindgren, CM, Makoto, H, Minegishi, N, Morris, AP, Mueller-Nurasyid, M, Norrving, B, Ogishima, S, Parati, EA, Pedersen, NL, Perola, M, Jousilahti, P, Pileggi, S, Rabionet, R, Riba-Llena, I, Ribases, M, Romero, JR, Rudd, AG, Sarin, A-P, Sarju, R, Satoh, M, Sawada, N, Sigurdsson, A, Smith, A, Stine, OC, Stott, DJ, Strauch, K, Takai, T, Tanaka, H, Touze, E, Tsugane, S, Uitterlinden, AG, Valdimarsson, EM, van der Lee, SJ, Wakai, K, Williams, SR, Wolfe, CDA, Wong, Q, Yamaji, T, Sanghera, DK, Stefansson, K, Martinez-Majander, N, Sobue, K, Soriano-Tarraga, C, Volzke, H, Akpa, O, Sarfo, FS, Akpalu, A, Obiako, R, Wahab, K, Osaigbovo, G, Owolabi, L, Komolafe, M, Jenkins, C, Arulogun, O, Ogbole, G, Adeoye, AM, Akinyemi, J, Agunloye, A, Fakunle, AG, Uvere, E, Olalere, A, Adebajo, OJ, Chen, J, Clarke, R, Collins, R, Guo, Y, Wang, C, Lv, J, Peto, R, Chen, Y, Fairhurst-Hunter, Z, Hill, M, Pozarickij, A, Schmidt, D, Stevens, B, Turnbull, I, Yu, C, Nagai, A, Murakami, Y, Shiroma, EJ, Sigurdsson, S, Ghanbari, M, Boerwinkle, E, Fongang, B, Wang, R, Ikram, MK, Volker, U, de Laat, KF, van Norden, AGW, de Kort, PL, Vermeer, SE, Brouwers, PJAM, Gons, RAR, den Heijer, T, van Dijk, GW, van Rooij, FGW, Aamodt, AH, Skogholt, AH, Willer, CJ, Heuch, I, Hagen, K, Fritsche, LG, Pedersen, LM, Ellekjaer, H, Zhou, W, Martinsen, AE, Kristoffersen, ES, Thomas, LF, Kleinschnitz, C, Frantz, S, Ungethum, K, Gallego-Fabrega, C, Lledos, M, Llucia-Carol, L, Sobrino, T, Campos, F, Castillo, J, Freijo, M, Arenillas, JF, Obach, V, Alvarez-Sabin, J, Molina, CA, Ribo, M, Munoz-Narbona, L, Lopez-Cancio, E, Millan, M, Diaz-Navarro, R, Vives-Bauza, C, Serrano-Heras, G, Segura, T, Dhar, R, Delgado-Mederos, R, Prats-Sanchez, L, Camps-Renom, P, Blay, N, Sumoy, L, Marti-Fabregas, J, Schnohr, P, Jensen, GB, Benn, M, Afzal, S, Kamstrup, PR, van Setten, J, van der Laan, SW, Vonk, JMJ, Kim, B-J, Curtze, S, Tiainen, M, Kinnunen, J, Menon, V, Sung, YJ, Saillour-Glenisson, F, and Gravel, S

Abstract

Previous genome-wide association studies (GWASs) of stroke - the second leading cause of death worldwide - were conducted predominantly in populations of European ancestry1,2. Here, in cross-ancestry GWAS meta-analyses of 110,182 patients who have had a stroke (five ancestries, 33% non-European) and 1,503,898 control individuals, we identify association signals for stroke and its subtypes at 89 (61 new) independent loci: 60 in primary inverse-variance-weighted analyses and 29 in secondary meta-regression and multitrait analyses. On the basis of internal cross-ancestry validation and an independent follow-up in 89,084 additional cases of stroke (30% non-European) and 1,013,843 control individuals, 87% of the primary stroke risk loci and 60% of the secondary stroke risk loci were replicated (P < 0.05). Effect sizes were highly correlated across ancestries. Cross-ancestry fine-mapping, in silico mutagenesis analysis3, and transcriptome-wide and proteome-wide association analyses revealed putative causal genes (such as SH3PXD2A and FURIN) and variants (such as at GRK5 and NOS3). Using a three-pronged approach4, we provide genetic evidence for putative drug effects, highlighting F11, KLKB1, PROC, GP1BA, LAMC2 and VCAM1 as possible targets, with drugs already under investigation for stroke for F11 and PROC. A polygenic score integrating cross-ancestry and ancestry-specific stroke GWASs with vascular-risk factor GWASs (integrative polygenic scores) strongly predicted ischaemic stroke in populations of European, East Asian and African ancestry5. Stroke genetic risk scores were predictive of ischaemic stroke independent of clinical risk factors in 52,600 clinical-trial participants with cardiometabolic disease. Our results provide insights to inform biology, reveal potential drug targets and derive genetic risk prediction tools across ancestries.

Published
2022

48. Multi-phenotype analyses of hemostatic traits with cardiovascular events reveal novel genetic associations

Author

Temprano-Sagrera, G, Sitlani, CM, Bone, WP, Martin-Bornez, M, Voight, BF, Morrison, AC, Damrauer, SM, de Vries, PS, Smith, NL, Sabater-Lleal, M, Krupinksi, J, Dehghan, A, Heath, AS, Reiner, AP, Johnson, A, Richmond, A, Peters, A, van Hylckama Vlieg, A, McKnight, B, Psaty, BM, Hayward, C, Ward-Caviness, C, O’Donnell, C, Chasman, D, Strachan, DP, Tregouet, DA, Mook-Kanamori, D, Gill, D, Thibord, F, Asselbergs, FW, Leebeek, FWG, Rosendaal, FR, Davies, G, Homuth, G, Temprano, G, Campbell, H, Taylor, HA, Bressler, J, Huffman, JE, Rotter, JI, Yao, J, Wilson, JF, Bis, JC, Hahn, JM, Desch, KC, Wiggins, KL, Raffield, LM, Bielak, LF, Yanek, LR, Kleber, ME, Mueller, M, Kavousi, M, Mangino, M, Liu, M, Brown, MR, Conomos, MP, Jhun, MA, Chen, MH, de Maat, MPM, Pankratz, N, Peyser, PA, Elliot, P, Wei, P, Wild, PS, Morange, PE, van der Harst, P, Yang, Q, Le, NQ, Marioni, R, Li, R, Cox, SR, Trompet, S, Felix, SB, Völker, U, Tang, W, Koenig, W, Jukema, JW, Guo, X, Lindstrom, S, Wang, L, Smith, EN, Gordon, W, de Andrade, M, Brody, JA, Pattee, JW, Haessler, J, Brumpton, BM, Chasman, DI, Suchon, P, Turman, C, Germain, M, MacDonald, J, Braekkan, SK, Armasu, SM, Temprano-Sagrera, G, Sitlani, CM, Bone, WP, Martin-Bornez, M, Voight, BF, Morrison, AC, Damrauer, SM, de Vries, PS, Smith, NL, Sabater-Lleal, M, Krupinksi, J, Dehghan, A, Heath, AS, Reiner, AP, Johnson, A, Richmond, A, Peters, A, van Hylckama Vlieg, A, McKnight, B, Psaty, BM, Hayward, C, Ward-Caviness, C, O’Donnell, C, Chasman, D, Strachan, DP, Tregouet, DA, Mook-Kanamori, D, Gill, D, Thibord, F, Asselbergs, FW, Leebeek, FWG, Rosendaal, FR, Davies, G, Homuth, G, Temprano, G, Campbell, H, Taylor, HA, Bressler, J, Huffman, JE, Rotter, JI, Yao, J, Wilson, JF, Bis, JC, Hahn, JM, Desch, KC, Wiggins, KL, Raffield, LM, Bielak, LF, Yanek, LR, Kleber, ME, Mueller, M, Kavousi, M, Mangino, M, Liu, M, Brown, MR, Conomos, MP, Jhun, MA, Chen, MH, de Maat, MPM, Pankratz, N, Peyser, PA, Elliot, P, Wei, P, Wild, PS, Morange, PE, van der Harst, P, Yang, Q, Le, NQ, Marioni, R, Li, R, Cox, SR, Trompet, S, Felix, SB, Völker, U, Tang, W, Koenig, W, Jukema, JW, Guo, X, Lindstrom, S, Wang, L, Smith, EN, Gordon, W, de Andrade, M, Brody, JA, Pattee, JW, Haessler, J, Brumpton, BM, Chasman, DI, Suchon, P, Turman, C, Germain, M, MacDonald, J, Braekkan, SK, and Armasu, SM

Abstract

Background: 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. Objectives: To discover novel genetic associations by combining summary data of correlated hemostatic traits and disease events. Methods: Summary statistics from genome wide-association studies (GWAS) from seven hemostatic traits (factor VII [FVII], factor VIII [FVIII], von Willebrand factor [VWF] factor XI [FXI], fibrinogen, tissue plasminogen activator [tPA], plasminogen activator inhibitor 1 [PAI-1]) and three major cardiovascular (CV) events (venous thromboembolism [VTE], coronary artery disease [CAD], ischemic stroke [IS]), were combined in 27 multi-trait combinations using metaUSAT. Genetic correlations between phenotypes were calculated using Linkage Disequilibrium Score Regression (LDSC). Newly associated loci were investigated for colocalization. We considered a significance threshold of 1.85 × 10−9 obtained after applying Bonferroni correction for the number of multi-trait combinations performed (n = 27). Results: Across the 27 multi-trait analyses, we found 4 novel pleiotropic loci (XXYLT1, KNG1, SUGP1/MAU2, TBL2/MLXIPL) that were not significant in the original individual datasets, were not described in previous GWAS for the individual traits, and that presented a common associated variant between the studied phenotypes. Conclusions: The discovery of four novel loci contributes to the understanding of the relationship between hemostasis and CV events and elucidate common genetic factors between these traits.

Published
2022

49. Heart Rate and Mortality in Patients With Acute Symptomatic Pulmonary Embolism

Author

Jaureguízar, Ana, primary, Jiménez, David, additional, Bikdeli, Behnood, additional, Ruiz-Artacho, Pedro, additional, Muriel, Alfonso, additional, Tapson, Victor, additional, López-Reyes, Raquel, additional, Valero, Beatriz, additional, Kenet, Gili, additional, Monreal, Manuel, additional, Prandoni, Paolo, additional, Brenner, Benjamin, additional, Farge-Bancel, Dominique, additional, Barba, Raquel, additional, Di Micco, Pierpaolo, additional, Bertoletti, Laurent, additional, Schellong, Sebastian, additional, Tzoran, Inna, additional, Reis, Abilio, additional, Bosevski, Marijan, additional, Bounameaux, Henri, additional, Malý, Radovan, additional, Verhamme, Peter, additional, Caprini, Joseph A., additional, Bui, Hanh My, additional, Adarraga, M.D., additional, Aibar, J., additional, Aibar, M.A., additional, Alonso, J., additional, Amado, C., additional, Arcelus, J.I., additional, Asuero, A., additional, Azcarate-Agüero, P., additional, Ballaz, A., additional, Barba, R., additional, Barbagelata, C., additional, Barrón, M., additional, Barrón-Andrés, B., additional, Blanco-Molina, A., additional, Beddar Chaib, F., additional, Camon, A.M., additional, Castro, J., additional, Chasco, L., additional, Criado, J., additional, de Ancos, C., additional, del Toro, J., additional, Demelo-Rodríguez, P., additional, Díaz-Brasero, A.M., additional, Díaz-Pedroche, M.C., additional, Díaz-Peromingo, J.A., additional, Di Campli, M.V., additional, Dubois-Silva, A., additional, Escribano, J.C., additional, Espósito, F., additional, Farfán-Sedano, A.I., additional, Fernández-Capitán, C., additional, Fernández-Reyes, J.L., additional, Fidalgo, M.A., additional, Flores, K., additional, Font, C., additional, Font, L., additional, Francisco, I., additional, Gabara, C., additional, Galeano-Valle, F., additional, García, M.A., additional, García-Bragado, F., additional, García de Herreros, M., additional, García de la Garza, R., additional, García-Díaz, C., additional, Gil-Díaz, A., additional, Gómez-Cuervo, C., additional, Giménez-Suau, M., additional, Grau, E., additional, Guirado, L., additional, Gutiérrez, J., additional, Hernández-Blasco, L., additional, Jara-Palomares, L., additional, Jaras, M.J., additional, Jiménez, D., additional, Jiménez-Alfaro, C., additional, Joya, M.D., additional, Lainez-Justo, S., additional, Latorre, A., additional, Lima, J., additional, Lobo, J.L., additional, López-Jiménez, L., additional, López-Miguel, P., additional, López-Núñez, J.J., additional, López-Reyes, R., additional, López-Sáez, J.B., additional, Lorenzo, A., additional, Madridano, O., additional, Maestre, A., additional, Marchena, P.J., additional, Martín del Pozo, M., additional, Martín-Martos, F., additional, Martínez-Urbistondo, D., additional, Mella, C., additional, Mercado, M.I., additional, Moisés, J., additional, Monreal, M., additional, Muñoz, M., additional, Muñoz-Blanco, A., additional, Nieto, J.A., additional, Nofuentes-Pérez, E., additional, Núñez-Fernández, M.J., additional, Olid-Velilla, M., additional, Olivares, M.C., additional, Osorio, J., additional, Otalora, S., additional, Otero, R., additional, Pedrajas, J.M., additional, Pellejero, G., additional, Porras, J.A., additional, Portillo, J., additional, Rodríguez-Matute, C., additional, Rosa, V., additional, Ruiz-Artacho, P., additional, Ruiz-Ruiz, J., additional, Salgueiro, G., additional, Sánchez-Martínez, R., additional, Sánchez-Muñoz-Torrero, J.F., additional, Sancho, T., additional, Soler, S., additional, Suárez-Rodríguez, B., additional, Suriñach, J.M., additional, Torres, M.I., additional, Tolosa, C., additional, Trujillo-Santos, J., additional, Uresandi, F., additional, Valero, B., additional, Valle, R., additional, Varona, J.F., additional, Vela, L., additional, Vela, J.R., additional, Vidal, G., additional, Villalobos, A., additional, Villares, P., additional, Zamora, C., additional, Ay, C., additional, Nopp, S., additional, Pabinger, I., additional, Vanassche, T., additional, Vandenbriele, C., additional, Verhamme, P., additional, Hirmerova, J., additional, Malý, R., additional, Accassat, S., additional, Ait Abdallah, N., additional, Bertoletti, L., additional, Bura-Riviere, A., additional, Catella, J., additional, Couturaud, F., additional, Crichi, B., additional, Debourdeau, P., additional, Espitia, O., additional, Farge-Bancel, D., additional, Grange, C., additional, Helfer, H., additional, Lacut, K., additional, Le Mao, R., additional, Mahé, I., additional, Morange, P., additional, Moustafa, F., additional, Poenou, G., additional, Sarlon-Bartoli, G., additional, Suchon, P., additional, Quere, I., additional, Schellong, S., additional, Braester, A., additional, Brenner, B., additional, Kenet, G., additional, Tzoran, I., additional, Basaglia, M., additional, Bilora, F., additional, Bortoluzzi, C., additional, Brandolin, B., additional, Ciammaichella, M., additional, De Angelis, A., additional, Di Micco, P., additional, Imbalzano, E., additional, Merla, S., additional, Pesavento, R., additional, Prandoni, P., additional, Siniscalchi, C., additional, Tufano, A., additional, Visonà, A., additional, Vo Hong, N., additional, Zalunardo, B., additional, Nishimoto, Y., additional, Sato, Y., additional, Birzulis, J., additional, Skride, A., additional, Zaicenko, A., additional, Fonseca, S., additional, Martins, F., additional, Meireles, J., additional, Bosevski, M., additional, Krstevski, G., additional, Bounameaux, H., additional, Mazzolai, L., additional, Bikdeli, B., additional, Caprini, J.A., additional, and Bui, H.M., additional

Published
2022
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