日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

African-ancestry-specific variant IKKβ p.Glu502Lys confers high lupus risk

非洲裔特有的IKKβ p.Glu502Lys变异体与较高的狼疮风险相关

Thorlacius, Gudny Ella; Ivarsdottir, Erna V; Saevarsdottir, Saedis; Moore, Kristjan H S; Gudjonsson, Sigurjon A; Halldorsson, Bjarni V; Holm, Hilma; Jonasdottir, Aslaug; Jonsson, Frosti; Kristmundsdottir, Snaedis; Masson, Gisli; Magnusson, Olafur T; Norddahl, Gudmundur L; Oddsson, Asmundur; Olafsdottir, Thorunn A; Olason, Pall I; Skaftason, Aron; Stefansdottir, Lilja; Sturluson, Arni; Thorsteinsdottir, Unnur; Thorleifsson, Gudmar; Walker, Valentin Y; Zink, Florian; Steingrimsson, Eirikur; Gudbjartsson, Daniel F; Jonsdottir, Ingileif; Helgason, Agnar; Sulem, Patrick; Stefansson, Kari

Missense variants in FRS3 affect body mass index in populations of diverse ancestries

FRS3基因的错义变异会影响不同种族人群的体重指数。

Jonsdottir, Andrea B; Sveinbjornsson, Gardar; Thorolfsdottir, Rosa B; Tamlander, Max; Tragante, Vinicius; Olafsdottir, Thorhildur; Rognvaldsson, Solvi; Sigurdsson, Asgeir; Eggertsson, Hannes P; Aegisdottir, Hildur M; Arnar, David O; Banasik, Karina; Beyter, Doruk; Bjarnason, Ragnar G; Bjornsdottir, Gyda; Brunak, Søren; Topholm Bruun, Mie; Dowsett, Joseph; Einarsson, Eythor; Einarsson, Gudmundur; Erikstrup, Christian; Fridriksdottir, Run; Ghouse, Jonas; Gretarsdottir, Solveig; Halldorsson, Gisli H; Hansen, Torben; Helgadottir, Anna; Holm, Peter C; Ivarsdottir, Erna V; Iversen, Kasper Karmark; Jensen, Bitten Aagaard; Jonsdottir, Ingileif; Knight, Stacey; Knowlton, Kirk U; Kristmundsdottir, Snaedis; Larusdottir, Adalheidur E; Magnusson, Olafur Th; Masson, Gisli; Melsted, Pall; Mikkelsen, Christina; Moore, Kristjan H S; Oddsson, Asmundur; Olason, Pall I; Palsson, Frosti; Pedersen, Ole Birger; Schwinn, Michael; Sigurdsson, Emil L; Skaftason, Aron; Stefansdottir, Lilja; Stefansson, Hreinn; Steingrimsdottir, Thora; Sturluson, Arni; Styrkarsdottir, Unnur; Sørensen, Erik; Teitsdottir, Unnur D; Thorgeirsson, Thorgeir E; Thorisson, Gudmundur A; Thorsteinsdottir, Unnur; Ulfarsson, Magnus O; Ullum, Henrik; Vikingsson, Arnor; Walters, G Bragi; Nadauld, Lincoln D; Bundgaard, Henning; Ostrowski, Sisse Rye; Helgason, Agnar; Halldorsson, Bjarni V; Norddahl, Gudmundur L; Ripatti, Samuli; Gudbjartsson, Daniel F; Thorleifsson, Gudmar; Steinthorsdottir, Valgerdur; Holm, Hilma; Sulem, Patrick; Stefansson, Kari

Disease-specific U1 spliceosomal RNA mutations in mature B-cell neoplasms

成熟B细胞肿瘤中疾病特异性U1剪接体RNA突变

Nadeu, Ferran; Shuai, Shimin; Clot, Guillem; Hilton, Laura K; Diaz-Navarro, Ander; Martín, Silvia; Royo, Romina; Baumann, Tycho; Kulis, Marta; López-Oreja, Irene; Cossio, Manuel; Lu, Junyan; Ljungström, Viktor; Young, Emma; Plevova, Karla; Knisbacher, Binyamin A; Lin, Ziao; Hahn, Cynthia K; Bousquets, Pablo; Alcoceba, Miguel; González, Marcos; Colado, Enrique; Payer, Ángel R; Aymerich, Marta; Terol, María J; Rivas-Delgado, Alfredo; Enjuanes, Anna; Ruiz-Gaspà, Sílvia; Chatzikonstantinou, Thomas; Hägerstrand, Daniel; Jylhä, Cecilia; Skaftason, Aron; Mansouri, Larry; Stranska, Kamila; Doubek, Michael; van Gastel-Mol, Ellen J; Davis, Zadie; Walewska, Renata; Scarfò, Lydia; Trentin, Livio; Visentin, Andrea; Parikh, Sameer A; Rabe, Kari G; Moia, Riccardo; Armand, Marine; Rossi, Davide; Davi, Frederic; Gaidano, Gianluca; Kay, Neil E; Shanafelt, Tait D; Ghia, Paolo; Oscier, David; Langerak, Anton W; Beà, Sílvia; López-Guillermo, Armando; Neuberg, Donna; Wu, Catherine J; Getz, Gad; Pospisilova, Sarka; Stamatopoulos, Kostas; Rosenquist, Richard; Huber, Wolfgang; Zenz, Thorsten; Colomer, Dolors; Martín-Subero, José I; Delgado, Julio; Morin, Ryan D; Stein, Lincoln D; Puente, Xose S; Campo, Elías

The non-canonical BAF chromatin remodeling complex is a novel target of spliceosome dysregulation in SF3B1-mutated chronic lymphocytic leukemia.

非经典 BAF 染色质重塑复合物是 SF3B1 突变型慢性淋巴细胞白血病中剪接体失调的新靶点

Hägerstrand Daniel, Oder Blaž, Cortese Diego, Qu Ying, Binzer-Panchal Amrei, Österholm Cecilia, Del Peso Santos Teresa, Rabbani Leily, Asl Hassan Foroughi, Skaftason Aron, Ljungström Viktor, Lundholm August, Koutroumani Maria, Haider Zahra, Jylhä Cecilia, Mollstedt John, Mansouri Larry, Plevova Karla, Agathangelidis Andreas, Scarfò Lydia, Armand Marine, Muggen Alice F, Kay Neil E, Shanafelt Tait, Rossi Davide, Orre Lukas M, Pospisilova Sarka, Barylyuk Konstantin, Davi Frederic, Vesterlund Mattias, Langerak Anton W, Lehtiö Janne, Ghia Paolo, Stamatopoulos Kostas, Sutton Lesley-Ann, Rosenquist Richard

Proteogenomic analysis of acute myeloid leukemia associates relapsed disease with reprogrammed energy metabolism both in adults and children

急性髓系白血病的蛋白质基因组学分析表明,复发性疾病与成人和儿童的能量代谢重编程相关。

Stratmann, Svea; Vesterlund, Mattias; Umer, Husen M; Eshtad, Saeed; Skaftason, Aron; Herlin, Morten Krogh; Sundström, Christer; Eriksson, Anna; Höglund, Martin; Palle, Josefine; Abrahamsson, Jonas; Jahnukainen, Kirsi; Munthe-Kaas, Monica Cheng; Zeller, Bernward; Tamm, Katja Pokrovskaja; Lindskog, Cecilia; Cavelier, Lucia; Lehtiö, Janne; Holmfeldt, Linda

Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

慢性淋巴细胞白血病中复发性基因突变的预后影响因IGHV基因体细胞高频突变状态而异:ERIC在HARMONY中的一项研究

Mansouri, Larry; Thorvaldsdottir, Birna; Sutton, Lesley-Ann; Karakatsoulis, Georgios; Meggendorfer, Manja; Parker, Helen; Nadeu, Ferran; Brieghel, Christian; Laidou, Stamatia; Moia, Riccardo; Rossi, Davide; Catherwood, Mark; Kotaskova, Jana; Delgado, Julio; Rodríguez-Vicente, Ana E; Benito, Rocío; Rigolin, Gian Matteo; Bonfiglio, Silvia; Scarfo, Lydia; Mattsson, Mattias; Davis, Zadie; Gogia, Ajay; Rani, Lata; Baliakas, Panagiotis; Foroughi-Asl, Hassan; Jylhä, Cecilia; Skaftason, Aron; Rapado, Inmaculada; Miras, Fatima; Martinez-Lopez, Joaquín; de la Serna, Javier; Rivas, Jesús María Hernández; Thornton, Patrick; Larráyoz, María José; Calasanz, María José; Fésüs, Viktória; Mátrai, Zoltán; Bödör, Csaba; Smedby, Karin E; Espinet, Blanca; Puiggros, Anna; Gupta, Ritu; Bullinger, Lars; Bosch, Francesc; Tazón-Vega, Bárbara; Baran-Marszak, Fanny; Oscier, David; Nguyen-Khac, Florence; Zenz, Thorsten; Terol, Maria Jose; Cuneo, Antonio; Hernández-Sánchez, María; Pospisilova, Sarka; Mills, Ken; Gaidano, Gianluca; Niemann, Carsten U; Campo, Elias; Strefford, Jonathan C; Ghia, Paolo; Stamatopoulos, Kostas; Rosenquist, Richard

Correction: Different prognostic impact of recurrent gene mutations in chronic lymphocytic leukemia depending on IGHV gene somatic hypermutation status: a study by ERIC in HARMONY

更正:慢性淋巴细胞白血病中复发基因突变的预后影响因IGHV基因体细胞高频突变状态而异:ERIC在HARMONY中的一项研究

Mansouri, Larry; Thorvaldsdottir, Birna; Sutton, Lesley-Ann; Karakatsoulis, Georgios; Meggendorfer, Manja; Parker, Helen; Nadeu, Ferran; Brieghel, Christian; Laidou, Stamatia; Moia, Riccardo; Rossi, Davide; Catherwood, Mark; Kotaskova, Jana; Delgado, Julio; Rodríguez-Vicente, Ana E; Benito, Rocío; Rigolin, Gian Matteo; Bonfiglio, Silvia; Scarfo, Lydia; Mattsson, Mattias; Davis, Zadie; Gogia, Ajay; Rani, Lata; Baliakas, Panagiotis; Foroughi-Asl, Hassan; Jylhä, Cecilia; Skaftason, Aron; Rapado, Inmaculada; Miras, Fatima; Martinez-Lopez, Joaquín; de la Serna, Javier; Rivas, Jesús María Hernández; Thornton, Patrick; Larráyoz, María José; Calasanz, María José; Fésüs, Viktória; Mátrai, Zoltán; Bödör, Csaba; Smedby, Karin E; Espinet, Blanca; Puiggros, Anna; Gupta, Ritu; Bullinger, Lars; Bosch, Francesc; Tazón-Vega, Bárbara; Baran-Marszak, Fanny; Oscier, David; Nguyen-Khac, Florence; Zenz, Thorsten; Terol, Maria Jose; Cuneo, Antonio; Hernández-Sánchez, María; Pospisilova, Sarka; Mills, Ken; Gaidano, Gianluca; Niemann, Carsten U; Campo, Elias; Strefford, Jonathan C; Ghia, Paolo; Stamatopoulos, Kostas; Rosenquist, Richard

Whole-genome informed circulating tumor DNA analysis by multiplex digital PCR for disease monitoring in B-cell lymphomas: a proof-of-concept study

利用多重数字PCR进行全基因组信息循环肿瘤DNA分析,用于B细胞淋巴瘤疾病监测:概念验证研究

Haider, Zahra; Wästerlid, Tove; Spångberg, Linn Deleskog; Rabbani, Leily; Jylhä, Cecilia; Thorvaldsdottir, Birna; Skaftason, Aron; Awier, Hero Nikdin; Krstic, Aleksandra; Gellerbring, Anna; Lyander, Anna; Hägglund, Moa; Jeggari, Ashwini; Rassidakis, Georgios; Sonnevi, Kristina; Sander, Birgitta; Rosenquist, Richard; Tham, Emma; Smedby, Karin E

Feasibility to use whole-genome sequencing as a sole diagnostic method to detect genomic aberrations in pediatric B-cell acute lymphoblastic leukemia

全基因组测序作为唯一诊断方法检测儿童B细胞急性淋巴细胞白血病基因组异常的可行性

Rezayee, Fatemah; Eisfeldt, Jesper; Skaftason, Aron; Öfverholm, Ingegerd; Sayyab, Shumaila; Syvänen, Ann Christine; Maqbool, Khurram; Lilljebjörn, Henrik; Johansson, Bertil; Olsson-Arvidsson, Linda; Pietras, Christina Orsmark; Staffas, Anna; Palmqvist, Lars; Fioretos, Thoas; Cavelier, Lucia; Fogelstrand, Linda; Nordlund, Jessica; Wirta, Valtteri; Rosenquist, Richard; Barbany, Gisela

Comparative analysis of targeted next-generation sequencing panels for the detection of gene mutations in chronic lymphocytic leukemia: an ERIC multi-center study

针对慢性淋巴细胞白血病基因突变检测的靶向二代测序panel的比较分析:一项ERIC多中心研究

Sutton, Lesley-Ann; Ljungström, Viktor; Enjuanes, Anna; Cortese, Diego; Skaftason, Aron; Tausch, Eugen; Stano Kozubik, Katerina; Nadeu, Ferran; Armand, Marine; Malcikova, Jikta; Pandzic, Tatjana; Forster, Jade; Davis, Zadie; Oscier, David; Rossi, Davide; Ghia, Paolo; Strefford, Jonathan C; Pospisilova, Sarka; Stilgenbauer, Stephan; Davi, Frederic; Campo, Elias; Stamatopoulos, Kostas; Rosenquist, Richard; On Behalf Of The European Research Initiative On Cll Eric