Zobrazeno 1 - 10 of 254 pro vyhledávání: '"Genetic Predisposition to Disease / genetics"'
1
GWAS and meta-analysis identifies 49 genetic variants underlying critical Covid-19
Autor: Pairo-Castineira, Erola, Rawlik, Konrad, Bretherick, Andrew D, Qi, Ting, Wu, Yang, Nassiri, Isar, McConkey, Glenn A., Zechner, Marie, Klaric, Lucija, Griffiths, Fiona, Oosthuyzen, Wilna, Kousathanas, Athanasios, Richmond , Anne, Millar, Jonathan, Russell, Clark D, Malinauskas, Tomas, Thwaites, Ryan, Morrice, Kirstie, Keating, Sean, Maslove, David M, Nichol, Alistair D, Semple, Malcolm Gracie, Knight, Julian, Shankar-Hari, Manu, Summers, Charlotte, Hinds , Charles, Horby, Peter, Ling, Lowell, McAuley, Danny F., Montgomery, Hugh, Openshaw, Peter J.M., Begg, Colin, Walsh, Timothy S., Tenesa, Albert, Flores, Carlos, Riancho, Jose A., Rojas-Martinez, Augusto, Lapunzina, Pablo, Yang, Jian, Ponting, Chris P, Wilson, James F, Vitart, Veronique, Abedalthagafi, Malak S, Luchessi, Andre, Parra, Esteban J, Cruz, Raquel, Carracedo, Angel, Fawkes, Angie, Murphy, Lee, Rowan, Kathy, Pereira, Alexandre C, Law, Andy, Fairfax, Benjamin P, Clohisey Hendry, Sara, Baillie, J Kenneth
Publikováno v: Pairo-Castineira, E, Rawlik, K, Bretherick, A D, Qi, T, Wu, Y, Nassiri, I, McConkey, G A, Zechner, M, Klaric, L, Griffiths, F, Oosthuyzen, W, Kousathanas, A, Richmond, A, Millar, J, Russell, C D, Malinauskas, T, Thwaites, R, Morrice, K, Keating, S, Maslove, D M, Nichol, A D, Semple, M G, Knight, J, Shankar-Hari, M, Summers, C, Hinds, C, Horby, P, Ling, L, McAuley, D F, Montgomery, H, Openshaw, P J M, Begg, C, Walsh, T S, Tenesa, A, Flores, C, Riancho, J A, Rojas-Martinez, A, Lapunzina, P, Yang, J, Ponting, C P, Wilson, J F, Vitart, V, Abedalthagafi, M S, Luchessi, A, Parra, E J, Cruz, R, Carracedo, A, Fawkes, A, Murphy, L, Rowan, K, Pereira, A C, Law, A, Fairfax, B P, Clohisey Hendry, S & Baillie, J K 2023, ' GWAS and meta-analysis identifies 49 genetic variants underlying critical Covid-19 ', Nature, vol. 617, no. 7962, pp. 764-768 . https://doi.org/10.1038/s41586-023-06034-3
Critical illness in COVID-19 is an extreme and clinically homogeneous disease phenotype that we have previously shown 1 to be highly efficient for discovery of genetic associations 2. Despite the advanced stage of illness at presentation, we have sho
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3094::43b7f0a3242c0f8452c02737c7d09b92
https://www.pure.ed.ac.uk/ws/files/348133266/s41586_023_06034_3.pdf
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2
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Autor: Trubetskoy, Vassily, Panagiotaropoulou, Georgia, Awasthi, Swapnil, Braun, Alice, Kraft, Julia, Skarabis, Nora, Walter, Henrik, Ripke, Stephan, Pardiñas, Antonio F., Dennison, Charlotte A., Hall, Lynsey S., Harwood, Janet C., Richards, Alexander L., Legge, Sophie E., Lynham, Amy, Williams, Nigel M., Bray, Nicholas J., Escott-Price, Valentina, Kirov, George, Holmans, Peter A., Pocklington, Andrew J., Owen, Michael J., Walters, James T. R., O’Donovan, Michael C., Qi, Ting, Sidorenko, Julia, Wu, Yang, Zeng, Jian, Gratten, Jacob, Visscher, Peter M., Yang, Jian, Wray, Naomi R., Bigdeli, Tim B., Fanous, Ayman H., Bryois, Julien, Bergen, Sarah E., Kähler, Anna K., Magnusson, Patrik K. E., Hultman, Christina M., Sullivan, Patrick F., Chen, Chia-Yen, Atkinson, Elizabeth G., Goldstein, Jacqueline I., Howrigan, Daniel P., Martin, Alicia R., Daly, Mark J., Huang, Hailiang, Neale, Benjamin M., Ge, Tian, Lam, Max, Belliveau, Richard A., Chambert, Kimberley D., Genovese, Giulio, Lee, Phil H., Pietiläinen, Olli, McCarroll, Steven A., Moran, Jennifer L., Smoller, Jordan W., Brown, Tyler C., Feng, Guoping, Hyman, Steven E., Sheng, Morgan, Chong, Siow Ann, Subramaniam, Mythily, Lencz, Todd, Malhotra, Anil K., Watanabe, Kyoko, Frei, Oleksandr, Agartz, Ingrid, Athanasiu, Lavinia, Melle, Ingrid, Andreassen, Ole A., Steen, Nils Eiel, DeLisi, Lynn E., Mesholam-Gately, Raquelle I., Seidman, Larry J., Koopmans, Frank, Magnusson, Sigurdur, Stefánsson, Hreinn, Stefansson, Kari, Grove, Jakob, Agerbo, Esben, Als, Thomas D., Bybjerg-Grauholm, Jonas, Demontis, Ditte, Hougaard, David M., Mors, Ole, Mortensen, Preben B., Nordentoft, Merete, Børglum, Anders D., Mattheisen, Manuel, Kim, Minsoo, Gandal, Michael J., Li, Zhiqiang, Shi, Yongyong, Zhou, Wei, Qin, Shengying, Voloudakis, Georgios, Zhang, Wen, Roussos, Panos, Adams, Mark, McIntosh, Andrew, Söderman, Erik, Jönsson, Erik G., McGrath, John J., Al Eissa, Mariam, Bass, Nicholas J., Fiorentino, Alessia, O’Brien, Niamh Louise, Pimm, Jonathan, Sharp, Sally Isabel, McQuillin, Andrew, Albus, Margot, Alexander, Madeline, Alizadeh, Behrooz Z., Bruggeman, Richard, Alptekin, Köksal, Amin, Farooq, Arolt, Volker, Lencer, Rebecca, Rothermundt, Matthias, Baune, Bernhard T., Arrojo, Manuel, Azevedo, Maria Helena, Bacanu, Silviu A., Webb, Bradley T., Wormley, Brandon K., Riley, Brien P., Kendler, Kenneth S., Begemann, Martin, Mitjans, Marina, Steixner-Kumar, Agnes A., Ehrenreich, Hannelore, Bene, Judit, Benyamin, Beben, Blasi, Giuseppe, Rampino, Antonio, Torretta, Silvia, Bertolino, Alessandro, Bobes, Julio, Bonassi, Stefano, Bressan, Rodrigo Affonseca, Gadelha, Ary, Noto, Cristiano, Ota, Vanessa Kiyomi, Santoro, Marcos Leite, Belangero, Sintia Iole, Bromet, Evelyn J., Buckley, Peter F., Buckner, Randy L., Cahn, Wiepke, Kahn, René S., Cairns, Murray J., Scott, Rodney J., Tooney, Paul A., Schall, Ulrich, Calkins, Monica E., Gur, Raquel E., Gur, Ruben C., Turetsky, Bruce I., Carr, Vaughan J., Castle, David, Harvey, Carol, Catts, Stanley V., Chan, Raymond C. K., Chaumette, Boris, Kebir, Oussama, Krebs, Marie-Odile, Cheng, Wei, Cheung, Eric F. C., Cohen, David, Consoli, Angèle, Giannitelli, Marianna, Laurent-Levinson, Claudine, Cordeiro, Quirino, Costas, Javier, Curtis, Charles, Quattrone, Diego, Breen, Gerome, Collier, David A., Di Forti, Marta, Vassos, Evangelos, Mondelli, Valeria, van Amelsvoort, Therese, Murray, Robin M., Davidson, Michael, Davis, Kenneth L., Haroutunian, Vahram, Malaspina, Dolores, Reichenberg, Abraham, Siever, Larry J., Silverman, Jeremy M., Buxbaum, Joseph D., de Haan, Lieuwe, Degenhardt, Franziska, Forstner, Andreas, Nöthen, Markus M., Dickerson, Faith, Dikeos, Dimitris, Papadimitriou, George N., Dinan, Timothy, Djurovic, Srdjan, Duan, Jubao, Gejman, Pablo V., Sanders, Alan R., Ducci, Giuseppe, Dudbridge, Frank, Eriksson, Johan G., Fañanás, Lourdes, Peñas, Javier González, González-Pinto, Ana, Molto, María Dolores, Moreno, Carmen, Parellada, Mara, Sanjuan, Julio, Crepo-Facorro, Benedicto, Mata, Ignacio, Arango, Celso, Faraone, Stephen V., Frank, Josef, Streit, Fabian, Witt, Stephanie H., Rietschel, Marcella, Freimer, Nelson B., Ophoff, Roel A., Fromer, Menachem, Stahl, Eli A., Frustaci, Alessandra, Gershon, Elliot S., Giegling, Ina, Hartmann, Annette M., Konte, Bettina, Rujescu, Dan, Giusti-Rodríguez, Paola, Szatkiewicz, Jin P., Godard, Stephanie, González Peñas, Javier, Gopal, Srihari, Savitz, Adam, Li, Qingqin S., Green, Michael F., Nuechterlein, Keith H., Sugar, Catherine A., Greenwood, Tiffany A., Light, Gregory A., Swerdlow, Neal R., Braff, David, Guillin, Olivier, Campion, Dominique, Gülöksüz, Sinan, Luykx, Jurjen J., Rutten, Bart P. F., van Winkel, Ruud, Gutiérrez, Blanca, Hahn, Eric, Hakonarson, Hakon, Pellegrino, Renata, Pantelis, Christos, Hayward, Caroline, Henskens, Frans A., Kelly, Brian J., Herms, Stefan, Hoffmann, Per, Ikeda, Masashi, Iwata, Nakao, Iyegbe, Conrad, van Os, Jim, Joa, Inge, Julià, Antonio, Marsal, Sara, Kam-Thong, Tony, Rautanen, Anna, Kamatani, Yoichiro, Karachanak-Yankova, Sena, Toncheva, Draga, Keller, Matthew C., Khrunin, Andrey, Limborska, Svetlana, Slominsky, Petr, Kim, Sung-Wan, Klovins, Janis, Nikitina-Zake, Liene, Kondratiev, Nikolay, Golimbet, Vera, Kubo, Michiaki, Kučinskas, Vaidutis, Kučinskiene, Zita Ausrele, Kusumawardhani, Agung, Kuzelova-Ptackova, Hana, Landi, Stefano, Lazzeroni, Laura C., Levinson, Douglas F., Petryshen, Tracey L., Lehrer, Douglas S., Lerer, Bernard, Li, Miaoxin, Lieberman, Jeffrey, Stroup, T. Scott, Liu, Chih-Min, Hwu, Hai-Gwo, Lönnqvist, Jouko, Loughland, Carmel M., Lubinski, Jan, Bakker, Steven, Kahn, René, Macek, Milan, Mackinnon, Andrew, Maher, Brion S., Maier, Wolfgang, Atbaşoğlu, Eşref Cem, Mallet, Jacques, Marder, Stephen R., Martorell, Lourdes, Muntané, Gerard, Vilella, Elisabet, Meier, Sandra, Schulze, Thomas G., McCarley, Robert W., McDonald, Colm, Donohoe, Gary, Morris, Derek W., Periyasamy, Sathish, Mowry, Bryan J., Medeiros, Helena, Sobell, Janet L., Melegh, Bela, Metspalu, Andres, Milani, Lili, Esko, Tõnu, Michie, Patricia T., Milanova, Vihra, Molden, Espen, Molina, Esther, Morley, Christopher P., Murphy, Kieran C., Myin-Germeys, Inez, Nenadić, Igor, Nestadt, Gerald, Pulver, Ann E., O’Neill, F. Anthony, Oh, Sang-Yun, Olincy, Ann, Freedman, Robert, Paunio, Tiina, Perkins, Diana O., Pfuhlmann, Bruno, Benner, Christian, Pirinen, Matti, Palotie, Aarno, Porteous, David, Powell, John, Quested, Digby, Radant, Allen D., Tsuang, Debby W., Rapaport, Mark H., Roe, Cheryl, Liu, Chunyu, Roffman, Joshua L., Roth, Julian, Gawlik, Micha, Saker-Delye, Safaa, Salomaa, Veikko, Suvisaari, Jaana, Shi, Jianxin, Sigurdsson, Engilbert, Sim, Kang, So, Hon-Cheong, Stain, Helen J., Stögmann, Elisabeth, Zimprich, Fritz, Stone, William S., Straub, Richard E., Hyde, Thomas, Jaffe, Andrew, Weinberger, Daniel R., Strengman, Eric, Svrakic, Dragan M., Cloninger, C. Robert, Ta, Thi Minh Tam, Takahashi, Atsushi, Terao, Chikashi, Thibaut, Florence, Tosato, Sarah, Tura, Gian Battista, Üçok, Alp, Vaaler, Arne, Veijola, Juha, Waddington, John, Waterreus, Anna, Morgan, Vera A., Jablensky, Assen V., Weiser, Mark, Wu, Jing Qin, Xu, Zhida, Yolken, Robert, Zai, Clement C., Kennedy, James L., Zhu, Feng, Saka, Meram C., Ayub, Muhammad, Black, Donald W., Buccola, Nancy G., Byerley, William F., Chen, Wei J., Crespo-Facorro, Benedicto, Galletly, Cherrie, Gennarelli, Massimo, Müller-Myhsok, Bertram, Neil, Amanda L., Pato, Michele T., Pato, Carlos N., Wang, Shi-Heng, Xu, Shuhua, Adolfsson, Rolf, Bramon, Elvira, Cervilla, Jorge A., Cichon, Sven, Corvin, Aiden, Gill, Michael, Curtis, David, Domenici, Enrico, Gareeva, Anna, Khusnutdinova, Elza, Glatt, Stephen J., Hong, Kyung Sue, Knowles, James A., Lee, Jimmy, Liu, Jianjun, Malhotra, Dheeraj, Menezes, Paulo R., Nimgaonkar, Vishwajit, Paciga, Sara A., Rivera, Margarita, Schwab, Sibylle G., Serretti, Alessandro, Sham, Pak C., Clair, David St, Tsuang, Ming T., Vawter, Marquis P., Werge, Thomas, Wildenauer, Dieter B., Yu, Xin, Yue, Weihua, Verhage, Matthijs, Sahasrabudhe, Dnyanada, Toonen, Ruud F., Posthuma, Danielle, Dai, Nan, Wenwen, Qin, Wildenauer, D. B., Agiananda, Feranindhya, Amir, Nurmiati, Antoni, Ronald, Arsianti, Tiana, Asmarahadi, Asmarahadi, Diatri, H., Djatmiko, Prianto, Irmansyah, Irmansyah, Khalimah, Siti, Kusumadewi, Irmia, Kusumaningrum, Profitasari, Lukman, Petrin R., Nasrun, Martina W., Safyuni, N. S., Prasetyawan, Prasetyawan, Semen, G., Siste, Kristiana, Tobing, Heriani, Widiasih, Natalia, Wiguna, Tjhin, Wulandari, D., Evalina, None, Hananto, A. J., Ismoyo, Joni H., Marini, T. M., Henuhili, Supiyani, Reza, Muhammad, Yusnadewi, Suzy, Abyzov, Alexej, Akbarian, Schahram, van Bakel, Harm, Breen, Michael, Charney, Alex, Dracheva, Stella, Girdhar, Kiran, Hoffman, Gabriel, Jiang, Yan, Pinto, Dalila, Purcell, Shaun, Roussos, Panagiotis, Wiseman, Jennifer, Ashley-Koch, Allison, Crawford, Gregory, Reddy, Tim, Brown, Miguel, Grennan, Kay, Carlyle, Becky, Emani, Prashant, Galeev, Timur, Gerstein, Mark, Gu, Mengting, Guerra, Brittney, Gursoy, Gamze, Kitchen, Robert, Lee, Donghoon, Li, Mingfeng, Liu, Shuang, Navarro, Fabio, Pan, Xinghua, Pochareddy, Sirisha, Rozowsky, Joel, Sestan, Nenad, Sethi, Anurag, Shi, Xu, Szekely, Anna, Wang, Daifeng, Warrell, Jonathan, Weissman, Sherman, Wu, Feinan, Xu, Xuming, Coetzee, Gerard, Farnham, Peggy, Lay, Fides, Rhie, Suhn, Witt, Heather, Wood, Shannon, Yao, Lijing, Gandal, Mike, Polioudakis, Damon, Swarup, Vivek, Won, Hyejung, Giase, Gina, Jiang, Shan, Kefi, Amira, Shieh, Annie, Goes, Fernando, Zandi, Peter, Kim, Yunjung, Mattei, Eugenio, Purcaro, Michael, Pratt, Henry, Peters, Mette A., Sanders, Stephan, Weng, Zhiping, White, Kevin, Arranz, Maria J., Lewis, Cathryn, Lin, Kuang, Walshe, Muriel, Bender, Stephan, Weisbrod, Matthias, Hall, Jeremy, Lawrie, Stephen, Linszen, Don H., Achsel, Tilmann, Bagni, Claudia, Andres-Alonso, Maria, Kreutz, Michael R., Bayés, Àlex, Biederer, Thomas, Brose, Nils, Chua, John Jia En, Coba, Marcelo P., Cornelisse, L. Niels, van Weering, Jan R. T., de Jong, Arthur P. H., MacGillavry, Harold D., de Juan-Sanz, Jaime, Dieterich, Daniela C., Pielot, Rainer, Smalla, Karl-Heinz, Gundelfinger, Eckart D., Goldschmidt, Hana L., Huganir, Richard L., Hoogenraad, Casper, Imig, Cordelia, Jahn, Reinhard, Jung, Hwajin, Kim, Eunjoon, Kaeser, Pascal S., Lipstein, Noa, Malenka, Robert, McPherson, Peter S., O’Connor, Vincent, Ryan, Timothy A., Sala, Carlo, Verpelli, Chiara, Smit, August B., Südhof, Thomas C., Thomas, Paul D.
Publikováno v: Indonesia Schizophrenia Consortium, PsychENCODE, Psychosis Endophenotypes International Consortium, SynGO Consortium & Schizophrenia Working Group of the Psychiatric Genomics Consortium 2022, ' Mapping genomic loci implicates genes and synaptic biology in schizophrenia ', Nature, vol. 604, no. 7906, pp. 502-508 . https://doi.org/10.1038/s41586-022-04434-5
Nature, 604(7906), 502-508. Nature Publishing Group
Nature
Nature, 604, 502-508. Nature Publishing Group
r-INCLIVA. Repositorio Institucional de Producción Científica de INCLIVA
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Nature, 604, 502. Nature Research
Indonesia Schizophrenia Consortium, PsychENCODE, Psychosis Endophenotypes International Consortium, SynGO Consortium, Schizophrenia Working Group of the Psychiatric Genomics Consortium & van Weering, JRT 2022, ' Mapping genomic loci implicates genes and synaptic biology in schizophrenia ', Nature, vol. 604, no. 7906, pp. 502-508 . https://doi.org/10.1038/s41586-022-04434-5
Nature 604, 502–508 (2022). doi:10.1038/s41586-022-04434-5
Digital.CSIC. Repositorio Institucional del CSIC
Trubetskoy, V, Pardiñas, A F, Qi, T, Panagiotaropoulou, G, Awasthi, S, Bigdeli, T B, Bryois, J, Chen, C-Y, Dennison, C A, Hall, L S, Lam, M, Watanabe, K, Frei, O, Ge, T, Harwood, J C, Koopmans, F, Magnusson, S, Richards, A L, Sidorenko, J, Wu, Y, Zeng, J, Grove, J, Kim, M, Li, Z, Voloudakis, G, Zhang, W, Adams, M, Agartz, I, Atkinson, E G, Agerbo, E, Al Eissa, M, Albus, M, Alexander, M, Alizadeh, B Z, Alptekin, K, Als, T D, Amin, F, Arolt, V, Arrojo, M, Athanasiu, L, Azevedo, M H, Demontis, D, Mattheisen, M, McGrath, J J, Meier, S, Chen, W J, Mors, O, Mortensen, P B, Børglum, A D, Yang, J & Indonesia Schizophrenia Consortium 2022, ' Mapping genomic loci implicates genes and synaptic biology in schizophrenia ', Nature, vol. 604, no. 7906, pp. 502-508 . https://doi.org/10.1038/s41586-022-04434-5
Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::04e8feb860cf70305337934afbb733ce
https://doi.org/10.1038/s41586-022-04434-5
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3
Challenges at the APOE locus: a robust quality control approach for accurate APOE genotyping
Autor: Belloy, Michael E, Eger, Sarah J, de Rojas, Itziar, Parveen, Kayenat, Sleegers, Kristel, Ingelsson, Martin, Hiltunen, Mikko, Amin, Najaf, Andreassen, Ole A, Sánchez-Juan, Pascual, Kehoe, Patrick Gavin, Amouyel, Philippe, Le Guen, Yann, Sims, Rebecca, Frikke-Schmidt, Ruth, van der Flier, Wiesje M, Lambert, Jean-Charles, BioBank, European Alzheimer & Dementia, He, Zihuai, Han, Summer S, Napolioni, Valerio, Greicius, Michael D, Damotte, Vincent, Ahmad, Shahzad, Ikram, M Arfan, Ramirez, Alfredo, Tsolaki, Anthoula C, Rossi, Giacomina, Jansen, Iris
Publikováno v: Alzheimer's Research & Therapy, 14(1):22. BioMed Central
Alzheimer's Research & Therapy
Alzheimer's research & therapy
Belloy, M E, Eger, S J, Le Guen, Y, Damotte, V, Ahmad, S, Ikram, M A, Ramirez, A, Tsolaki, A C, Rossi, G, Jansen, I E, de Rojas, I, Parveen, K, Sleegers, K, Ingelsson, M, Hiltunen, M, Amin, N, Andreassen, O, Sánchez-Juan, P, Kehoe, P, Amouyel, P, Sims, R, Frikke-Schmidt, R, van der Flier, W M, Lambert, J C, He, Z, Han, S S, Napolioni, V, Greicius, M D & European Alzheimer & Dementia BioBank (EADB) 2022, ' Challenges at the APOE locus : a robust quality control approach for accurate APOE genotyping ', Alzheimer's research & therapy, vol. 14, no. 1, 22 . https://doi.org/10.1186/s13195-022-00962-4
Belloy, M E, Eger, S J, le Guen, Y, Damotte, V, Ahmad, S, Ikram, M A, Ramirez, A, Tsolaki, A C, Rossi, G, Jansen, I E, de Rojas, I, Parveen, K, Sleegers, K, Ingelsson, M, Hiltunen, M, Amin, N, Andreassen, O, Sánchez-Juan, P, Kehoe, P, Amouyel, P, Sims, R, Frikke-Schmidt, R, van der Flier, W M, Lambert, J-C, He, Z, Han, S S, European Alzheimer & Dementia BioBank (EADB), Napolioni, V & Greicius, M D 2022, ' Challenges at the APOE locus : a robust quality control approach for accurate APOE genotyping ', Alzheimer's Research & Therapy, vol. 14, no. 1, 22, pp. 22 . https://doi.org/10.1186/s13195-022-00962-4
Alzheimer's research & therapy, 14(1):22. BioMed Central Ltd.
for the European Alzheimer & Dementia BioBank (EADB) 2022, ' Challenges at the APOE locus : a robust quality control approach for accurate APOE genotyping ', Alzheimer's Research and Therapy, vol. 14, no. 1, 22 . https://doi.org/10.1186/s13195-022-00962-4
Alzheimer's research & therapy 14(1), 22 (2022). doi:10.1186/s13195-022-00962-4
Alzheimer’s Research & Therapy, Vol 14, Iss 1, Pp 1-17 (2022)
2022, ' Challenges at the APOE locus : a robust quality control approach for accurate APOE genotyping ', Alzheimer's Research & Therapy, vol. 14, no. 1, 22 . https://doi.org/10.1186/s13195-022-00962-4
Alzheimer's Research and Therapy, 14(1):22. BioMed Central
Background Genetic variants within the APOE locus may modulate Alzheimer’s disease (AD) risk independently or in conjunction with APOE*2/3/4 genotypes. Identifying such variants and mechanisms would importantly advance our understanding of APOE pat
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63a0c24c1a766cc73a83686215b99c5f
https://research.vumc.nl/en/publications/6828c379-3698-4b23-83ed-db73135922c1
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4
Genetic copy number variants, cognition and psychosis
Autor: Ruud van Winkel, Eugenia Kravariti, Matthias Weisbrod, Jim van Os, Bart P. F. Rutten, Lieuwe de Haan, Vaughan Bell, Behrooz Z. Alizadeh, Katja Schulze, Benedicto Crespo-Facorro, Claudia J. P. Simons, Jurjen J. Luykx, Assen Jablensky, Wiepke Cahn, Conrad Iyegbe, Frederike Schirmbeck, Elvira Bramon, John Powell, Jasmine Harju-Seppänen, Jeremy Hall, Rebecca M. Jones, René S. Kahn, Robin M. Murray, Luba Kalaydjieva, Dan Rujescu, Sonja M C de Zwarte, Marco Picchioni, Johan H. Thygesen, Roel A. Ophoff, Anjali Bhat, Therese van Amelsvoort, Timothea Toulopoulou, Siri Ranlund, Rebecca Muir, Kuang Lin, Diana Prata, Mei-Hua Hall, Ignacio Mata, Muriel Walshe, Stephen M. Lawrie, Karoline Kuchenbaecker, Madiha Shaikh, Eirini Zartaloudi, Isabelle Austin-Zimmerman, Evangelos Vassos, Richard Bruggeman, Agna A. Bartels-Velthuis, Andrew M. McIntosh, Haritz Irizar, Neeltje E.M. van Haren, Marta Di Forti, Andrew McQuillin, Alvaro Diez-Revuelta, Cathryn M. Lewis, Amelia Presman, Stella Calafato, Colm McDonald
Publikováno v: Molecular Psychiatry, 26(9). Nature Publishing Group
Molecular psychiatry, 26(9), 5307-5319. Nature Publishing Group
Molecular Psychiatry, 26(9), 5307-5319. Nature Publishing Group
Molecular Psychiatry
Molecular Psychiatry, vol 26, iss 9
Digital.CSIC. Repositorio Institucional del CSIC
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Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
Thygesen, J H, Presman, A, Harju-seppänen, J, Irizar, H, Jones, R, Kuchenbaecker, K, Lin, K, Alizadeh, B Z, Austin-zimmerman, I, Bartels-velthuis, A, Bhat, A, Bruggeman, R, Cahn, W, Calafato, S, Crespo-facorro, B, De Haan, L, De Zwarte, S M C, Di Forti, M, Díez-revuelta, Á, Hall, J, Hall, M, Iyegbe, C, Jablensky, A, Kahn, R, Kalaydjieva, L, Kravariti, E, Lawrie, S, Luykx, J J, Mata, I, Mcdonald, C, Mcintosh, A M, Mcquillin, A, Muir, R, Ophoff, R, Picchioni, M, Prata, D P, Ranlund, S, Rujescu, D, Rutten, B P F, Schulze, K, Shaikh, M, Schirmbeck, F, Simons, C J P, Toulopoulou, T, Van Amelsvoort, T, Van Haren, N, Van Os, J, Van Winkel, R, Vassos, E, Walshe, M, Weisbrod, M, Zartaloudi, E, Bell, V, Powell, J, Lewis, C M, Murray, R M & Bramon, E 2020, ' Genetic copy number variants, cognition and psychosis: a meta-analysis and a family study ', Molecular Psychiatry . https://doi.org/10.1038/s41380-020-0820-7
The burden of large and rare copy number genetic variants (CNVs) as well as certain specific CNVs increase the risk of developing schizophrenia. Several cognitive measures are purported schizophrenia endophenotypes and may represent an intermediate p
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a77aa22bb723acca7995d821851a526a
https://pure.eur.nl/en/publications/2276c730-19ed-41bc-9ed2-7ef0ebac9832
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5
Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling
Autor: Mehreen, Soomro, Michael, Stadler, Nick, Dand, James, Bluett, Deepak, Jadon, Farideh, Jalali-Najafabadi, Michael, Duckworth, Pauline, Ho, Helena, Marzo-Ortega, Philip S, Helliwell, Anthony W, Ryan, David, Kane, Eleanor, Korendowych, Michael A, Simpson, Jonathan, Packham, Ross, McManus, Cem, Gabay, Céline, Lamacchia, Michael J, Nissen, Matthew A, Brown, Suzanne M M, Verstappen, Tjeerd, Van Staa, Jonathan N, Barker, Catherine H, Smith, Oliver, FitzGerald, Neil, McHugh, Richard B, Warren, John, Bowes
Publikováno v: 2022, ' Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling ', Arthritis and Rheumatology, vol. 74, no. 9, pp. 1535-1543 . https://doi.org/10.1002/art.42154
BADBIR Study Group 2022, ' Comparative Genetic Analysis of Psoriatic Arthritis and Psoriasis for the Discovery of Genetic Risk Factors and Risk Prediction Modeling ', Arthritis & rheumatology (Hoboken, N.J.), vol. 74, no. 9, pp. 1535-1543 . https://doi.org/10.1002/art.42154
Objectives: Psoriatic arthritis (PsA) has a strong genetic component, and the identification of genetic risk factors could help identify the ~30% of psoriasis patients at high risk of developing PsA. Our objectives were to identify genetic risk facto
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::85e08610b06d2af5be81cd231f214933
https://kclpure.kcl.ac.uk/ws/files/180291144/Comparative_Genetic_Analysis_SOOMRO_Publishedonline4August2022_GOLD_VoR_CC_BY.pdf
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A polygenic resilience score moderates the genetic risk for schizophrenia
Autor: Hess, Jonathan L, Tylee, Daniel S, Mors, Ole, Duan, Jubao, Dudbridge, Frank, Duncanson, Audrey, Durmishi, Naser, Edkins, Sarah, Ehrenreich, Hannelore, Eichhammer, Peter, Eriksson, Johan, Escott-Price, Valentina, Esko, Tõnu, Nordentoft, Merete, Essioux, Laurent, Fanous, Ayman H, Farh, Kai-How, Farrell, Martilias S, Frank, Josef, Franke, Lude, Freedman, Robert, Freeman, Colin, Freimer, Nelson B, Friedl, Marion, Hougaard, David M, Friedman, Joseph I, Fromer, Menachem, Gejman, Pablo V, Genovese, Giulio, Georgieva, Lyudmila, Giannoulatou, Eleni, Giegling, Ina, Gill, Michael, Gillman, Matthew, Giusti-Rodríguez, Paola, Byberg-Grauholm, Jonas, Godard, Stephanie, Goldstein, Jacqueline I, Golimbet, Vera, Gopal, Srihari, Gratten, Jacob, Gray, Emma, Gurling, Hugh, Gwilliam, Rhian, de Haan, Lieuwe, Hall, Jeremy, Bækvad-Hansen, Marie, Hammer, Christian, Hammond, Naomi, Hamshere, Marian L, Hansen, Mark, Hansen, Thomas, Haroutunian, Vahram, Hartmann, Annette M, Hellenthal, Garrett, Henskens, Frans A, Herms, Stefan, Greenwood, Tiffany A, Hirschhorn, Joel N, Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V, Huang, Hailiang, Hultman, Christina M, Hunt, Sarah E, Ikeda, Masashi, Iwata, Nakao, Iyegbe, Conrad, Tsuang, Ming T, Jablensky, Assen V, Jankowski, Janusz, Jayakumar, Alagurevathi, Joa, Inge, Jönsson, Erik G, Julià, Antonio, Kähler, Anna K, Kahn, René S, Kalaydjieva, Luba, Karachanak-Yankova, Sena, Curtis, David, Karjalainen, Juha, Kavanagh, David, Keller, Matthew C, Kendler, Kenneth S, Kennedy, James L, Khrunin, Andrey, Kim, Yunjung, Kirov, George, Klovins, Janis, Knight, Jo, Steinberg, Stacy, Knowles, James A, Konte, Bettina, Kucinskas, Vaidutis, Kucinskiene, Zita Ausrele, Kuzelova-Ptackova, Hana, Langford, Cordelia, Laurent, Claudine, Lawrie, Stephen, Lee, S Hong, Lee, Phil, Sigurdsson, Engilbert, Lee, Jimmy, Legge, Sophie E, Lencz, Todd, Lerer, Bernard, Levinson, Douglas F, Lewis, Cathryn M, Li, Tao, Li, Qingqin S, Li, Miaoxin, Liang, Kung-Yee, Mattheisen, Manuel, Stefánsson, Hreinn, Liddle, Jennifer, Lieberman, Jeffrey, Limborska, Svetlana, Lin, Kuang, Linszen, Don H, Liu, Jianjun, Lönnqvist, Jouko, Loughland, Carmel M, Lubinski, Jan, Macek, Milan, Stefánsson, Kári, Magnusson, Patrik K E, Maher, Brion S, Maier, Wolfgang, Malhotra, Anil K, Mallet, Jacques, Markus, Hugh S, Marsal, Sara, Mata, Ignacio, Mathew, Christopher G, Mattingsdal, Morten, Edenberg, Howard J, McCann, Owen T, McCarley, Robert W, McCarroll, Steven A, McCarthy, Mark I, McDonald, Colm, McIntosh, Andrew M, McQuillin, Andrew, Meier, Sandra, Meijer, Carin J, Melegh, Bela, Holmans, Peter, Melle, Ingrid, Mesholam-Gately, Raquelle I, Metspalu, Andres, Michie, Patricia T, Milani, Lili, Milanova, Vihra, Mokrab, Younes, Moran, Jennifer L, Morris, Derek W, Mowry, Bryan J, Faraone, Stephen V, Müller-Myhsok, Bertram, Murphy, Kieran C, Murray, Robin M, Myin-Germeys, Inez, Neale, Benjamin M, Nelis, Mari, Nenadic, Igor, Nertney, Deborah A, Nestadt, Gerald, Nicodemus, Kristin K, Glatt, Stephen J, Nikitina-Zake, Liene, Nisenbaum, Laura, Nordin, Annelie, Nöthen, Markus M, O'Callaghan, Eadbhard, O'Donovan, Michael C, O'Dushlaine, Colm, O'Neill, F Anthony, Oh, Sang-Yun, Olincy, Ann, Adolfsson, Rolf, Olsen, Line, Ophoff, Roel A, Van Os, Jim, Owen, Michael J, Palmer, Colin N A, Palotie, Aarno, Pantelis, Christos, Papadimitriou, George N, Papiol, Sergi, Parkhomenko, Elena, Agartz, Ingrid, Pato, Michele T, Pato, Carlos N, Paunio, Tiina, Pearson, Richard, Cairns, Murray J, DeLisi, Lynn E, Gershon, Elliot S, Kelly, Brian J, Lam, Max, Norgren, Nina, Agerbo, Esben, Paciga, Sara A, Tooney, Paul A, Wu, Jing Qin, Pejovic-Milovancevic, Milica, Perkins, Diana O, Pers, Tune H, Petryshen, Tracey L, Pietiläinen, Olli, Pimm, Jonathan, Pirinen, Matti, Albus, Margot, Plomin, Robert, Pocklington, Andrew J, Posthuma, Danielle, Potter, Simon C, Powell, John, Price, Alkes, Pulver, Ann E, Purcell, Shaun M, Quested, Digby, Rasmussen, Henrik B, Consortium, Schizophrenia Working Group of the Psychiatric Genomics, Alexander, Madeline, Rautanen, Anna, Ravindrarajah, Radhi, Reichenberg, Abraham, Reimers, Mark A, Richards, Alexander L, Ricketts, Michelle, Rietschel, Marcella, Riley, Brien P, Ripke, Stephan, Roffman, Joshua L, Amin, Farooq, Roussos, Panos, Ruderfer, Douglas M, Rujescu, Dan, Salomaa, Veikko, Sanders, Alan R, Sawcer, Stephen J, Schall, Ulrich, Schubert, Christian R, Schulze, Thomas G, Schwab, Sibylle G, Andreassen, Ole A, Scolnick, Edward M, Scott, Rodney J, Seidman, Larry J, Sham, Pak C, Shi, Jianxin, Silagadze, Teimuraz, Silverman, Jeremy M, Sim, Kang, Sklar, Pamela, Arranz, Maria J, Slominsky, Petr, Smoller, Jordan W, So, Hon-Cheong, Söderman, Erik, Spencer, Chris C A, Clair, David St, Stahl, Eli A, Stogmann, Elisabeth, Strange, Amy, Straub, Richard E, Bacanu, Silviu A, Strengman, Eric, Strohmaier, Jana, Stroup, T Scott, Su, Zhan, Subramaniam, Mythily, Sullivan, Patrick F, Suvisaari, Jaana, Svrakic, Dragan M, Szatkiewicz, Jin P, Tashakkori-Ghanbaria, Avazeh, Bakker, Steven, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Trembath, Richard C, Veijola, Juha, Visscher, Peter M, Viswanathan, Ananth C, Vukcevic, Damjan, Waddington, John, Waller, Matthew, Band, Gavin, Walsh, Dermot, Walshe, Muriel, Walters, James T R, Wang, Qiang, Wang, Dai, Webb, Bradley T, Weinberger, Daniel R, Weisbrod, Matthias, Weiser, Mark, Wendland, Jens R, Barroso, Ines, Weston, Paul, Whittaker, Pamela, Widaa, Sara, Wiersma, Durk, Wildenauer, Dieter B, Williams, Stephanie, Williams, Nigel M, Witt, Stephanie H, Wolen, Aaron R, Wong, Emily H M, Begemann, Martin, Wood, Nicholas W, Wormley, Brandon K, Wray, Naomi R, Xi, Hualin Simon, Zai, Clement C, Zheng, Xuebin, Zimprich, Fritz, Bellenguez, Céline, Research, Lundbeck Foundation Initiative for Integrative Psychiatric, Belliveau, Richard A, Bender, Stephan, Bene, Judit, Bergen, Sarah E, Bevilacqua, Elizabeth, Bigdeli, Tim B, Black, Donald W, Blackburn, Hannah, Blackwell, Jenefer M, Blackwood, Douglas H R, Børglum, Anders D, Bramon, Elvira, Brown, Matthew A, Bruggeman, Richard, Buccola, Nancy G, Buckner, Randy L, Bulik-Sullivan, Brendan, Bumpstead, Suzannah J, Buxbaum, Joseph D, Byerley, William, Cahn, Wiepke, Als, Thomas D, Cai, Guiqing, Campion, Dominique, Cantor, Rita M, Carr, Vaughan J, Carrera, Noa, Casas, Juan P, Catts, Stanley V, Chambert, Kimberley D, Chan, Ronald Y L, Chan, Raymond C K, Grove, Jakob, Chen, Eric Y H, Cheng, Wei, Cheung, Eric F C, Chong, Siow Ann, Cichon, Sven, Cloninger, C Robert, Cohen, David, Cohen, Nadine, Collier, David A, Cormican, Paul, Werge, Thomas, Corvin, Aiden, Craddock, Nick, Crespo-Facorro, Benedicto, Crowley, James J, Daly, Mark J, Darvasi, Ariel, Davidson, Michael, Davis, Kenneth L, Degenhardt, Franziska, Del Favero, Jurgen, Mortensen, Preben Bo, Deloukas, Panos, Demontis, Ditte, Dikeos, Dimitris, Dinan, Timothy, Djurovic, Srdjan, Domenici, Enrico, Donnelly, Peter, Donohoe, Gary, Drapeau, Elodie, Dronov, Serge
Publikováno v: Hess, J L, Tylee, D S, Mattheisen, M, Børglum, A D, Als, T D, Grove, J, Werge, T, Mortensen, P B, Mors, O, Nordentoft, M, Hougaard, D M, Byberg-Grauholm, J, Bækvad-Hansen, M, Greenwood, T A, Tsuang, M T, Curtis, D, Steinberg, S, Sigurdsson, E, Stefánsson, H, Stefánsson, K, Edenberg, H J, Holmans, P, Faraone, S V, Glatt, S J, Schizophrenia Working Group of the Psychiatric Genomics Consortium & Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH) 2021, ' A polygenic resilience score moderates the genetic risk for schizophrenia ', Molecular Psychiatry, vol. 26, no. 3, pp. 800-815 . https://doi.org/10.1038/s41380-019-0463-8
Schizophrenia Working Group of the Psychiatric Genomics Consortium 2019, ' A polygenic resilience score moderates the genetic risk for schizophrenia ', Molecular Psychiatry . https://doi.org/10.1038/s41380-019-0463-8
Molecular psychiatry 26, 800–815 (2021). doi:10.1038/s41380-019-0463-8
Molecular psychiatry
Molecular psychiatry, 26, 800-815. Nature Publishing Group
Hess, J L, Tylee, D S, Mattheisen, M, Schizophrenia Working Group of the Psychiatric Genomics Consortium, Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Børglum, A D, Als, T D, Grove, J, Werge, T, Mortensen, P B, Mors, O, Nordentoft, M, Hougaard, D M, Byberg-Grauholm, J, Bækvad-Hansen, M, Greenwood, T A, Tsuang, M T, Curtis, D, Steinberg, S, Sigurdsson, E, Stefánsson, H, Stefánsson, K, Edenberg, H J, Holmans, P, Faraone, S V & Glatt, S J 2021, ' A polygenic resilience score moderates the genetic risk for schizophrenia ', Molecular Psychiatry, vol. 26, no. 3, pp. 800–815 . https://doi.org/10.1038/s41380-019-0463-8
Molecular psychiatry, vol 26, iss 3
Hess, J L, Tylee, D S, Mattheisen, M, The Schizophrenia Working Group of the Psychiatric Genomics Consortium, Lundbeck Foundation Initiative for Integrative Psychiatric Research (iPSYCH), Børglum, A D, Als, T D, Grove, J, Werge, T, Mortensen, P B, Mors, O, Nordentoft, M, Hougaard, D M, Byberg-grauholm, J, Bækvad-hansen, M, Greenwood, T A, Tsuang, M T, Curtis, D, Steinberg, S, Sigurdsson, E, Stefánsson, H, Stefánsson, K, Edenberg, H J, Holmans, P, Faraone, S V & Glatt, S J 2021, ' A polygenic resilience score moderates the genetic risk for schizophrenia ', Molecular Psychiatry, vol. 26, pp. 800–815 . https://doi.org/10.1038/s41380-019-0463-8
Molecular Psychiatry, 26(3), 800-815. Nature Publishing Group
Publisher's version (útgefin grein)
Based on the discovery by the Resilience Project (Chen R. et al. Nat Biotechnol 34:531–538, 2016) of rare variants that confer resistance to Mendelian disease, and protective alleles for some complex diseas
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3471197df8fec836d8bcf93e6e4b37fd
https://research.vu.nl/en/publications/15dcf4e5-af27-45fe-b775-143bf7e22e6b
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Impact of MDM2 promoter SNP55 (rs2870820) on risk of endometrial and ovarian cancer
Autor: Stian Knappskog, Merete Bjørnslett, Liv Beathe Gansmo, Lars J. Vatten, Pål Richard Romundstad, Kristian Hveem, Anne Dørum, Reham Helwa, Per Eystein Lønning, Mari K. Halle, Henrica M.J. Werner
Publikováno v: Biomarkers, 26(4), 302-308. Routledge/Taylor & Francis Group
Biomarkers
BACKGROUND: While large GWAS analyses have not found convincing associations between MDM2 promoter SNP55 and gynaecological cancers, SNP55 is in linkage disequilibrium with two other functional SNPs in the same promoter, likely to obscure association
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bef6d8de14b5bbf2ea0922cf11f07792
https://doi.org/10.1080/1354750x.2021.1891291
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8
Mapping genomic loci implicates genes and synaptic biology in schizophrenia
Autor: Indonesia Schizophrenia Consortium, Mac Gillavry, Harold, de Jong, Arthur
Schizophrenia has a heritability of 60-80%1, much of which is attributable to common risk alleles. Here, in a two-stage genome-wide association study of up to 76,755 individuals with schizophrenia and 243,649 control individuals, we report common var
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______101::88f0edf87e8731727db4221202ec0634
https://dspace.library.uu.nl/handle/1874/424111
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9
Rare coding variants in ten genes confer substantial risk for schizophrenia
Autor: Tarjinder Singh, Timothy Poterba, David Curtis, Huda Akil, Mariam Al Eissa, Jack D. Barchas, Nicholas Bass, Tim B. Bigdeli, Gerome Breen, Evelyn J. Bromet, Peter F. Buckley, William E. Bunney, Jonas Bybjerg-Grauholm, William F. Byerley, Sinéad B. Chapman, Wei J. Chen, Claire Churchhouse, Nicholas Craddock, Caroline M. Cusick, Lynn DeLisi, Sheila Dodge, Michael A. Escamilla, Saana Eskelinen, Ayman H. Fanous, Stephen V. Faraone, Alessia Fiorentino, Laurent Francioli, Stacey B. Gabriel, Diane Gage, Sarah A. Gagliano Taliun, Andrea Ganna, Giulio Genovese, David C. Glahn, Jakob Grove, Mei-Hua Hall, Eija Hämäläinen, Henrike O. Heyne, Matti Holi, David M. Hougaard, Daniel P. Howrigan, Hailiang Huang, Hai-Gwo Hwu, René S. Kahn, Hyun Min Kang, Konrad J. Karczewski, George Kirov, James A. Knowles, Francis S. Lee, Douglas S. Lehrer, Francesco Lescai, Dolores Malaspina, Stephen R. Marder, Steven A. McCarroll, Andrew M. McIntosh, Helena Medeiros, Lili Milani, Christopher P. Morley, Derek W. Morris, Preben Bo Mortensen, Richard M. Myers, Merete Nordentoft, Niamh L. O’Brien, Ana Maria Olivares, Dost Ongur, Willem H. Ouwehand, Duncan S. Palmer, Tiina Paunio, Digby Quested, Mark H. Rapaport, Elliott Rees, Brandi Rollins, F. Kyle Satterstrom, Alan Schatzberg, Edward Scolnick, Laura J. Scott, Sally I. Sharp, Pamela Sklar, Jordan W. Smoller, Janet L. Sobell, Matthew Solomonson, Eli A. Stahl, Christine R. Stevens, Jaana Suvisaari, Grace Tiao, Stanley J. Watson, Nicholas A. Watts, Douglas H. Blackwood, Anders D. Børglum, Bruce M. Cohen, Aiden P. Corvin, Tõnu Esko, Nelson B. Freimer, Stephen J. Glatt, Christina M. Hultman, Andrew McQuillin, Aarno Palotie, Carlos N. Pato, Michele T. Pato, Ann E. Pulver, David St. Clair, Ming T. Tsuang, Marquis P. Vawter, James T. Walters, Thomas M. Werge, Roel A. Ophoff, Patrick F. Sullivan, Michael J. Owen, Michael Boehnke, Michael C. O’Donovan, Benjamin M. Neale, Mark J. Daly
Publikováno v: Singh, T, Poterba, T, Curtis, D, Akil, H, Al Eissa, M, Barchas, J D, Bass, N, Bigdeli, T B, Breen, G, Bromet, E J, Buckley, P F, Bunney, W E, Bybjerg-Grauholm, J, Byerley, W F, Chapman, S B, Chen, W J, Churchhouse, C, Craddock, N, Cusick, C M, DeLisi, L, Dodge, S, Escamilla, M A, Eskelinen, S, Fanous, A H, Faraone, S V, Fiorentino, A, Francioli, L, Gabriel, S B, Gage, D, Gagliano Taliun, S A, Ganna, A, Genovese, G, Glahn, D C, Grove, J, Hall, M H, Hämäläinen, E, Heyne, H O, Holi, M, Hougaard, D M, Howrigan, D P, Huang, H, Hwu, H G, Kahn, R S, Kang, H M, Karczewski, K J, Kirov, G, Knowles, J A, Lee, F S, Lehrer, D S, Lescai, F, Malaspina, D, Marder, S R, McCarroll, S A, McIntosh, A M, Medeiros, H, Milani, L, Morley, C P, Morris, D W, Mortensen, P B, Myers, R M, Nordentoft, M, O’Brien, N L, Olivares, A M, Ongur, D, Ouwehand, W H, Palmer, D S, Paunio, T, Quested, D, Rapaport, M H, Rees, E, Rollins, B, Satterstrom, F K, Schatzberg, A, Scolnick, E, Scott, L J, Sharp, S I, Sklar, P, Smoller, J W, Sobell, J L, Solomonson, M, Stahl, E A, Stevens, C R, Suvisaari, J, Tiao, G, Watson, S J, Watts, N A, Blackwood, D H, Børglum, A D, Cohen, B M, Corvin, A P, Esko, T, Freimer, N B, Glatt, S J, Hultman, C M, McQuillin, A, Palotie, A, Pato, C N, Pato, M T, Pulver, A E, St. Clair, D, Tsuang, M T, Vawter, M P, Walters, J T, Werge, T M, Ophoff, R A, Sullivan, P F, Owen, M J, Boehnke, M, O’Donovan, M C, Neale, B M & Daly, M J 2022, ' Rare coding variants in ten genes confer substantial risk for schizophrenia ', Nature, vol. 604, no. 7906, pp. 509-516 . https://doi.org/10.1038/s41586-022-04556-w
Singh, T, Poterba, T, Curtis, D, Akil, H, Al Eissa, M, Barchas, J D, Bass, N, Bigdeli, T B, Breen, G, Bromet, E J, Buckley, P F, Bunney, W E, Bybjerg-Grauholm, J, Byerley, W F, Chapman, S B, Chen, W J, Churchhouse, C, Craddock, N, Cusick, C M, DeLisi, L, Dodge, S, Escamilla, M A, Eskelinen, S, Fanous, A H, Faraone, S V, Fiorentino, A, Francioli, L, Gabriel, S B, Gage, D, Gagliano Taliun, S A, Ganna, A, Genovese, G, Glahn, D C, Grove, J, Hall, M-H, Hämäläinen, E, Heyne, H O, Holi, M, Hougaard, D M, Howrigan, D P, Huang, H, Hwu, H-G, Kahn, R S, Kang, H M, Karczewski, K J, Kirov, G, Knowles, J A, Lee, F S, Lehrer, D S, Lescai, F, Malaspina, D, Marder, S R, McCarroll, S A, McIntosh, A M, Medeiros, H, Milani, L, Morley, C P, Morris, D W, Mortensen, P B, Myers, R M, Nordentoft, M, O'Brien, N L, Olivares, A M, Ongur, D, Ouwehand, W H, Palmer, D S, Paunio, T, Quested, D, Rapaport, M H, Rees, E, Rollins, B, Satterstrom, F K, Schatzberg, A, Scolnick, E, Scott, L J, Sharp, S I, Sklar, P, Smoller, J W, Sobell, J L, Solomonson, M, Stahl, E A, Stevens, C R, Suvisaari, J, Tiao, G, Watson, S J, Watts, N A, Blackwood, D H, Børglum, A D, Cohen, B M, Corvin, A P, Esko, T, Freimer, N B, Glatt, S J, Hultman, C M, McQuillin, A, Palotie, A, Pato, C N, Pato, M T, Pulver, A E, St Clair, D, Tsuang, M T, Vawter, M P, Walters, J T, Werge, T M, Ophoff, R A, Sullivan, P F, Owen, M J, Boehnke, M, O'Donovan, M C, Neale, B M & Daly, M J 2022, ' Rare coding variants in ten genes confer substantial risk for schizophrenia ', Nature, vol. 604, no. 7906, pp. 509-516 . https://doi.org/10.1038/s41586-022-04556-w
Nature, 604(7906), 509-516. Nature Publishing Group
Nature
Rare coding variation has historically provided the most direct connections between gene function and disease pathogenesis. By meta-analysing the whole exomes of 24,248 schizophrenia cases and 97,322 controls, we implicate ultra-rare coding variants
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bfe2ccc8fbcc9e1444b626bc8351e653
https://pure.au.dk/portal/da/publications/rare-coding-variants-in-ten-genes-confer-substantial-risk-for-schizophrenia(18614934-0efa-4d5e-be5b-93b19a40453d).html
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