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

Mapping the genetic landscape across 14 psychiatric disorders

绘制14种精神疾病的遗传图谱

Grotzinger, Andrew D; Werme, Josefin; Peyrot, Wouter J; Frei, Oleksandr; de Leeuw, Christiaan; Bicks, Lucy K; Guo, Qiuyu; Margolis, Michael P; Coombes, Brandon J; Batzler, Anthony; Pazdernik, Vanessa; Biernacka, Joanna M; Andreassen, Ole A; Anttila, Verneri; Børglum, Anders D; Breen, Gerome; Cai, Na; Demontis, Ditte; Edenberg, Howard J; Faraone, Stephen V; Franke, Barbara; Gandal, Michael J; Gelernter, Joel; Hatoum, Alexander S; Hettema, John M; Johnson, Emma C; Jonas, Katherine G; Knowles, James A; Koenen, Karestan C; Maihofer, Adam X; Mallard, Travis T; Mattheisen, Manuel; Mitchell, Karen S; Neale, Benjamin M; Nievergelt, Caroline M; Nurnberger, John I; O'Connell, Kevin S; Peterson, Roseann E; Robinson, Elise B; Sanchez-Roige, Sandra S; Santangelo, Susan L; Scharf, Jeremiah M; Stefansson, Hreinn; Stefansson, Kari; Stein, Murray B; Strom, Nora I; Thornton, Laura M; Tucker-Drob, Elliot M; Verhulst, Brad; Waldman, Irwin D; Walters, G Bragi; Wray, Naomi R; Yu, Dongmei; Lee, Phil H; Kendler, Kenneth S; Smoller, Jordan W

De novo and inherited dominant variants in U4 and U6 snRNA genes cause retinitis pigmentosa

U4 和 U6 snRNA 基因的新生突变和遗传性显性突变会导致视网膜色素变性。

Quinodoz, Mathieu; Rodenburg, Kim; Cvackova, Zuzana; Kaminska, Karolina; de Bruijn, Suzanne E; Iglesias-Romero, Ana Belén; Boonen, Erica G M; Ullah, Mukhtar; Zomer, Nick; Folcher, Marc; Bijon, Jacques; Holtes, Lara K; Tsang, Stephen H; Corradi, Zelia; Freund, K Bailey; Shliaga, Stefanida; Panneman, Daan M; Hitti-Malin, Rebekkah J; Ali, Manir; AlTalbishi, Ala'a; Andréasson, Sten; Ansari, Georg; Arno, Gavin; Astuti, Galuh D N; Ayuso, Carmen; Ayyagari, Radha; Banfi, Sandro; Banin, Eyal; Barakat, Tahsin Stefan; Barboni, Mirella T S; Bauwens, Miriam; Ben-Yosef, Tamar; Bernard, Virginie; Birch, David G; Biswas, Pooja; Blanco-Kelly, Fiona; Bocquet, Beatrice; Boon, Camiel J F; Branham, Kari; Bremond-Gignac, Dominique; Britten-Jones, Alexis Ceecee; Bujakowska, Kinga M; Burin des Roziers, Cyril; Cadena, Elizabeth L; Calzetti, Giacomo; Cancellieri, Francesca; Cattaneo, Luca; Chadderton, Naomi; Charbel Issa, Peter; Coutinho-Santos, Luísa; Daiger, Stephen P; De Baere, Elfride; De Bruyne, Marieke; de la Cerda, Berta; De Roach, John N; De Zaeytijd, Julie; Derks, Ronny; Dhaenens, Claire-Marie; Dudakova, Lubica; Duncan, Jacque L; Farrar, G Jane; Feltgen, Nicolas; Fenner, Beau J; Fernández-Caballero, Lidia; Ferraz Sallum, Juliana M; Gana, Simone; Garanto, Alejandro; Gardner, Jessica C; Gilissen, Christian; Gonzàlez-Duarte, Roser; Goto, Kensuke; Griffiths-Jones, Sam; Haack, Tobias B; Haer-Wigman, Lonneke; Hardcastle, Alison J; Hayashi, Takaaki; Héon, Elise; Hoefsloot, Lies H; Hoischen, Alexander; Holtan, Josephine P; Hoyng, Carel B; Ibanez, Manuel Benjamin B 4th; Inglehearn, Chris F; Iwata, Takeshi; Jensson, Brynjar O; Jones, Kaylie; Kalatzis, Vasiliki; Kamakari, Smaragda; Karali, Marianthi; Kellner, Ulrich; Klaver, Caroline C W; Knézy, Krisztina; Koenekoop, Robert K; Kohl, Susanne; Kominami, Taro; Kühlewein, Laura; Lamey, Tina M; Leibu, Rina; Leroy, Bart P; Liskova, Petra; Lopez, Irma; López-Rodríguez, Victor R de J; Mahieu, Quinten; Mahroo, Omar A; Manes, Gaël; Mansard, Luke; Martín-Gutiérrez, M Pilar; Martins, Nelson; Mauring, Laura; McKibbin, Martin; McLaren, Terri L; Meunier, Isabelle; Michaelides, Michel; Millán, José M; Mizobuchi, Kei; Mukherjee, Rajarshi; Nagy, Zoltán Zsolt; Neveling, Kornelia; Ołdak, Monika; Oorsprong, Michiel; Pan, Yang; Papachristou, Anastasia; Percesepe, Antonio; Pfau, Maximilian; Pierce, Eric A; Place, Emily; Ramesar, Raj; Ramond, Francis; Rasquin, Florence Andrée; Rice, Gillian I; Roberts, Lisa; Rodríguez-Hidalgo, María; Ruiz-Ederra, Javier; Sabir, Ataf H; Sajiki, Ai Fujita; Sánchez-Barbero, Ana Isabel; Sarma, Asodu Sandeep; Sangermano, Riccardo; Santos, Cristina M; Scarpato, Margherita; Scholl, Hendrik P N; Sharon, Dror; Signorini, Sabrina G; Simonelli, Francesca; Sousa, Ana Berta; Stefaniotou, Maria; Stefansson, Kari; Stingl, Katarina; Suga, Akiko; Sulem, Patrick; Sullivan, Lori S; Szabó, Viktória; Szaflik, Jacek P; Taurina, Gita; Thiadens, Alberta A H J; Toomes, Carmel; Tran, Viet H; Tsilimbaris, Miltiadis K; Tsoka, Pavlina; Vaclavik, Veronika; Vajter, Marie; Valeina, Sandra; Valente, Enza Maria; Valentine, Casey; Valero, Rebeca; Valleix, Sophie; van Aerschot, Joseph; van den Born, L Ingeborgh; Van Heetvelde, Mattias; Verhoeven, Virginie J M; Vincent, Andrea L; Webster, Andrew R; Whelan, Laura; Wissinger, Bernd; Yioti, Georgia G; Yoshitake, Kazutoshi; Zenteno, Juan C; Zeuli, Roberta; Zuleger, Theresia; Landau, Chaim; Jacob, Allan I; Lin, Siying; Cremers, Frans P M; Lee, Winston; Ellingford, Jamie M; Stanek, David; Roosing, Susanne; Rivolta, Carlo

Genomic and transcriptomic analyses of aortic stenosis enhance therapeutic target discovery and disease prediction.

主动脉狭窄的基因组学和转录组学分析有助于发现治疗靶点和预测疾病。

Small Aeron M, Yang Ta-Yu, Itoh Shinsuke, Thériault Sébastien, Dufresne Line, Kurosawa Ryo, Komuro Issei, Matsuda Koichi, Vy Ha My T, Farber-Eger Eric H, Shaffer Lauren Lee, Boulier Kristin M, Corey Kristin M, Ramaker Megan E, Laporte Fabien, Schott Jean-Jacques, Le Scouarnec Solena, Singh Sasha A, Sonawane Abhijeet R, Smith Harry A, Rafaels Nicholas, Ghouse Jonas, Raja Anna A, Ostrowski Sisse R, Sørensen Erik, Mikkelsen Christina, Pedersen Ole B, Erikstrup Christian, Ullum Henrik, Sveinbjornsson Gardar, Gudbjartsson Daniel F, Abner Erik, Lee Jiwoo, Ganna Andrea, Nowak-Göttl Ulrike, Finer Sarah, Schumacher Johannes, Maj Carlo, Al-Kassou Baravan, Nickenig Georg, Trenkwalder Teresa, Dreβen Martina, Krane Markus, Nöthen Markus M, Moksnes Marta R, Brumpton Ben M, Knight Stacey, Knowlton Kirk U, Nadauld Lincoln, Debiec Radek, Musameh Muntaser D, Braund Peter S, Nelson Christopher P, Czuba Tomasz, Melander Olle, Selvaraj Margaret Sunitha, Koyama Satoshi, Bhukar Rohan, Ruan Yunfeng, Ljungberg Johan, Damrauer Scott M, Levin Michael G, Franke Andre, Berger Klaus, Ruff Christian T, Melloni Giorgio E M, Kamanu Frederick K, Ito Kaoru, Do Ron, Loos Ruth J F, Schunkert Heribert, Wells Quinn S, Shah Svati H, Le Tourneau Thierry, Messika-Zeitoun David, Gignoux Christopher, Bundgaard Henning, Larsson Susanna C, Michaëlsson Karl, Holm Hilma, Helgadottir Anna, Esko Tonu, van Heel David A, Mathieu Patrick, Samani Nilesh J, Smith J Gustav, Söderberg Stefan, Rader Daniel J, Marston Nicholas A, Sabatine Marc S, Pasaniuc Bogdan, Cho Kelly, Wilson Peter W F, O'Donnell Christopher J, Stefansson Kari, Bossé Yohan, Aikawa Elena, Engert James C, Peloso Gina M, Natarajan Pradeep, Thanassoulis George

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Distinct metabolic signatures of Alzheimer's and Parkinson's disease revealed through genetic overlap

通过基因重叠揭示阿尔茨海默病和帕金森病的独特代谢特征

Stinson, Sara E; Shadrin, Alexey A; Rahman, Zillur; Rødevand, Linn; Broce, Iris J; Selbæk, Geir; Stefansson, Hreinn; Haavik, Jan; Parker, Nadine; Koch, Elise; Frei, Oleksandr; O'Connell, Kevin S; Smeland, Olav B; Djurovic, Srdjan; Dale, Anders M; van der Meer, Dennis; Andreassen, Ole A

Development and validation of a neural network survival prediction model for ischemic heart disease

缺血性心脏病神经网络生存预测模型的开发与验证

Holm, Peter C; Haue, Amalie D; Westergaard, David; Röder, Timo; Banasik, Karina; Tragante, Vinicius; Johansen, Christian H; Christensen, Alex H; Thomas, Laurent; Nøst, Therese H; Skogholt, Anne-Heidi; Iversen, Kasper K; Pedersen, Frants; Høfsten, Dan E; Pedersen, Ole B; Ostrowski, Sisse Rye; Ullum, Henrik; Svendsen, Mette N; Gjødsbøl, Iben M; Gudnason, Thorarinn; Guðbjartsson, Daníel F; Helgadottir, Anna; Hveem, Kristian; Køber, Lars V; Holm, Hilma; Stefansson, Kari; Brunak, Søren; Bundgaard, Henning

Integrated mutational landscape analysis of endometrial stromal sarcoma

子宫内膜间质肉瘤的整合突变图谱分析

Hartwich, Tobias M P; Choi, Seungji; Hwang, Ayoung; Bellone, Stefania; Palmieri, Luca; Seo, Hae; Kim, Taekeun; Hong, Juhyeon; Krakstad, Camilla; Trovik, Jone; Stefansson, Ingunn M; Haugland, Hans Kristian; Greenman, Michelle; Ettorre, Victoria; Ottum, Sarah; Demirkiran, Cem; Yang-Hartwich, Yang; Buza, Natalia; Hui, Pei; Lopez, Salvatore; Cormio, Gennaro; Ramunno, Mariantonietta; Zito, Alfredo; Perrone, Emanuele; Fagotti, Anna; Fanfani, Francesco; Santoro, Angela; Ravaggi, Antonella; Bignotti, Eliana; Odicino, Franco; Ardighieri, Laura; Ratner, Elena; Angioli, Roberto; Perrone, Giuseppe; Luvero, Daniela; Conca, Beatrice; Choi, Jungmin; Schlessinger, Joseph; Santin, Alessandro D

Breast cancer risk prediction with a modified BOADICEA model in Danish women

利用改良的BOADICEA模型预测丹麦女性乳腺癌风险

Novitski, Sif Ingibergsdóttir; Jacobsen, Rikke Louise; Röder, Timo; Holm, Peter Christoffer; Schwinn, Michael; Vejborg, Ilse; von Euler-Chelpin, My Catarina; Lynge, Elsebeth; Ostrowski, Sisse R; Sørensen, Erik; Pedersen, Ole Birger; Erikstrup, Christian; Aagaard, Bitten; Hjalgrim, Henrik; Rafnar, Thórunn; Stefansson, Kari; Mavaddat, Nasim; Ficorella, Lorenzo; Antoniou, Antonis C; Ullum, Henrik; Banasik, Karina; Brunak, Søren; Bojesen, Stig Egil

A meta-analysis identifies driver genes and characterizes the molecular epidemiology of colorectal cancer

一项荟萃分析确定了驱动基因并描述了结直肠癌的分子流行病学特征

Olafsson, Sigurgeir; Thorarinsson, Thorri; Gudjonsson, Sigurjon A; Bustamante, Mariana; Gunnarsdottir, Helga S; Knutsdottir, Hildur; Jonsson, Hakon; Magnusson, Magnus I; Soebech, Emilia; Runarsdottir, Hjaltey; Magnusdottir, Droplaug N; le Roux, Louise; Saemundsdottir, Jona; Kristinsdottir, Bjarney S; Agnarson, Bjarni A; Jonsdottir, Erna M; Tryggvason, Thordur; Ulfarsson, Magnus O; Gudbjartsson, Daniel F; Jonasson, Jon G; Magnusson, Olafur; Stefansson, Kari; Rafnar, Thorunn

Variant in a Taste Receptor Locus Tied to Changes in the Use of Insomnia Medication

味觉受体基因位点的变异与失眠药物使用方式的改变有关

Einarsson, Gudmundur; Arnason, Hannes K; Gisladottir, Rosa S; Bjornsdottir, Gyda; Thorgeirsson, Thorgeir E; Skuladottir, Astros; Walters, G Bragi; Saevarsdottir, Saedis; Magnusson, Magnus K; Halldorsson, Gisli H; Snaebjarnarson, Audunn S; Einarsson, Hafsteinn; Sveinbjornsson, Gardar; Helgason, Hannes; Tragante, Vinicius; Jonsdottir, Gudrun A; Aegisdottir, Hildur M; Jonsdottir, Ingileif; Gislason, Thorarinn; Thorleifsson, Gudmar; Sulem, Patrick; Stefansson, Hreinn; Gudbjartsson, Daniel F; Stefansson, Kari