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

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

Loss-of-function variants in the CAPN1 activator CD99L2 cause X-linked spastic ataxia

CAPN1激活因子CD99L2的功能缺失变异会导致X连锁痉挛性共济失调。

Menden, Benita; Incebacak Eltemur, Rana D; Demidov, German; Sturm, Marc; Park, Joohyun; Huridou, Chrisovalantou; Fath, Florian; Nümann, Astrid; Baumann, Alexander; Diets, Illja J; Dufke, Claudia; Regensburger, Martin; Rönnefarth, Maria; Wilke, Vera; van Os, Nienke; Vielhaber, Stefan; Rattay, Tim W; Kohl, Zacharias; Peralta, Susana; Pereira Sena, Priscila; Kellner, Melanie; Weissert, Nadine; Traschütz, Andreas; Zeltner, Lena; Boelmans, Kai; Deininger, Natalie; Schütz, Leon; Gross, Caspar; Hinojosa Amaya, Ana Beatriz; Raupach, Katrin; Hengel, Holger; Harmuth, Florian; Admard, Jakob; Bader, Ingrid; Baumann, Sarah; Bender, Friedemann; Bevot, Andrea; Bischoff, Almut; Boschann, Felix; Buchert, Rebecca; Buchzik, Daniel; Casadei, Nicolas; Catarino, Claudia B; Cordts, Isabell; Cremer, Kirsten; Doebler-Neumann, Marion; Ehmke, Nadja; Elbracht, Miriam; Falb, Ruth J; Feindt, Thomas; Fleszar, Zofia; Gerstner, Lea; Gläser, Dieter; Grasshoff, Ute; Grosch, Sarah; Grundmann, Kathrin; Gutschalk, Alexander; Haaga, Manja; Hayer, Stefanie; Hehr, Ute; Hellenbroich, Yorck; Henn, Wolfram; Herr, Barbara; Herzog, Rebecca; Horber, Veronka; Deppe, Jonas; Kaiser, Nadja; Kehrer, Christiane; Kehrer, Martin; Kern, Jan; Keßler, Christoph; Khuller, Katharina; Klinkhammer, Hannah; Kotzaeridou, Urania; Krawitz, Peter; Kreiss, Martina; Küpper, Hanna; Kuster, Alice; Laugwitz, Lucia; Lesemann, Anne; Lichey, Nadine; Linden, Tobias; Macek, Boris; Magg, Janine; Mangold, Elisabeth; Manka, Eva; Marquardt, Iris; Mehnert, Karl; Mengel, David; Morlot, Susanne; Oehl-Jaschkowitz, Barbara; Pauly, Martje G; Philipp, Melanie; Radelfahr, Florentine; Rautenberg, Maren; Riess, Angelika; Saft, Carsten; Schlotter-Weigel, Beate; Schmidt, Axel; Schwaibold, Eva M C; Spahlinger, Veronika; Spranger, Stephanie; Steiner, Katharina Marie; Stendel, Claudia; Thieme, Andreas; Tzschach, Andreas; Velic, Ana; Wiethoff, Sarah; Wilke, Carlo; Züchner, Stephan; Zittel, Simone; Husain, Ralf A; Deschauer, Marcus; Distelmaier, Felix; Dufke, Andreas; Graessner, Holm; Hemmer, Bernhard; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Kobeleva, Xenia; Korenke, Georg-Christoph; Kuechler, Alma; Kuhlenbäumer, Gregor; Kurth, Ingo; Nguyen, Huu Phuc; Wunderlich, Gilbert; Zeuner, Kirsten E; Klebe, Stephan; Auer-Grumbach, Michaela; Butryn, Michaela; Winkler, Jürgen; Timmann, Dagmar; Synofzik, Matthis; van de Warrenburg, Bart; Schüle, Rebecca; Schöls, Ludger; Ossowski, Stephan; Riess, Olaf; Weber, Jonasz J; Haack, Tobias B

Response to the Letter to the Editor Entitled "Revisiting Vincristine for FSGS: Proof-of-Mechanism Arrives, but Whom Should we Treat?"

对题为“重新审视长春新碱治疗局灶节段性肾小球硬化症:机制证据已到,但我们应该治疗哪些患者?”的读者来信的回应

Mason, William J; Chandler, Jennifer C; Gage, Alice M; Pomeranz, Gideon; Price, Karen L; Antonelou, Marilina; Henderson, Scott R; Perin, Laura; Da Sacco, Stefano; Salama, Alan D; Long, David A; Pepper, Ruth J

Registration of Stillbirth After Early Fetal Death: A National Population-Based Analysis

早期胎儿死亡后死产登记:一项基于全国人口的分析

Matthews, Ruth J; Vydyula, K Sruthi; Gallimore, Ian D; Manktelow, Bradley N; Smith, Lucy K

Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia

基于全基因组序列的非裔美国人双相情感障碍和精神分裂症关联分析

Li, Runjia; Gagliano Taliun, Sarah A; Liao, Kevin; Flickinger, Matthew; Sobell, Janet L; Genovese, Giulio; Locke, Adam E; Chiu, Rebeca Rothwell; LeFaive, Jonathon; Wang, Jiongming; Martins, Taylor; Chapman, Sinéad; Neumann, Anna; Handsaker, Robert E; Arnett, Donna K; Barnes, Kathleen C; Boerwinkle, Eric; Braff, David; Cade, Brian E; Fornage, Myriam; Gibbs, Richard A; Hoth, Karin F; Hou, Lifang; Kooperberg, Charles; Loos, Ruth J F; Metcalf, Ginger A; Montgomery, Courtney G; Morrison, Alanna C; Qin, Zhaohui S; Redline, Susan; Reiner, Alexander P; Rich, Stephen S; Rotter, Jerome I; Taylor, Kent D; Viaud-Martinez, Karine A; Bigdeli, Tim B; Gabriel, Stacey; Zollner, Sebastian; Smith, Albert V; Abecasis, Goncalo; McCarroll, Steve A; Pato, Michele T; Pato, Carlos N; Boehnke, Michael; Knowles, James; Kang, Hyun Min; Ophoff, Roel A; Ernst, Jason; Scott, Laura J

A Novel Murine Model of Acute Laryngeal Injury After Intubation

插管后急性喉损伤的新型小鼠模型

Davis, Ruth J; Kreuser, Hannah; Lunga, Tadeas; Schaub, Ryan E; Thibeault, Susan L

Genomics link obesity and type 2 diabetes to Alzheimer's disease to unveil novel biological insights

基因组学将肥胖和2型糖尿病与阿尔茨海默病联系起来,揭示了新的生物学见解

Cunha, César; Garcia-Ureña, Mario; Martínez, Raquel; Romero-Lado, María José; Fernandez, Maria Victoria; Andreassen, Ole A; Sims, Rebecca; Tsolaki, Magda; Sleegers, Kristel; Hiltunen, Mikko; Nicolas, Gaël; Sánchez-Juan, Pascual; Ingelsson, Martin; Giedraitis, Vilmantas; Ghidoni, Roberta; Holstege, Henne; van Duijn, Cornelia; van der Lee, Sven; Ramirez, Alfredo; Bellenguez, Céline; Lambert, Jean-Charles; Frikke-Schmidt, Ruth; Kilpeläinen, Tuomas O; Loos, Ruth J F

Genetic subtyping of obesity reveals biological insights into the uncoupling of adiposity from its cardiometabolic comorbidities

肥胖的基因亚型分析揭示了脂肪堆积与其心血管代谢合并症脱钩的生物学机制

Chami, Nathalie; Wang, Zhe; Svenstrup, Victor; Obrero, Virginia Diez; Hemerich, Daiane; Huang, Yi; Dashti, Hesam; Manitta, Eleonora; Preuss, Michael H; North, Kari E; Holm, Louise Aas; Fonvig, Cilius E; Holm, Jens-Christian; Hansen, Torben; Scheele, Camilla; Rauch, Alexander; Smit, Roelof A J; Claussnitzer, Melina; Loos, Ruth J F

CLINICAL EPIDEMIOLOGY OF THE EFFECT OF NOVEL HYPNOTICS ON PRESCRIBING CHANGES IN PATIENTS USING BENZODIAZEPINE RECEPTOR AGONISTS

新型催眠药对使用苯二氮卓受体激动剂患者处方变化的影响的临床流行病学研究

Kiryluk, Krzysztof; Sanchez-Rodriguez, Elena; Zhou, Xu-Jie; Zanoni, Francesca; Liu, Lili; Mladkova, Nikol; Khan, Atlas; Marasa, Maddalena; Zhang, Jun Y; Balderes, Olivia; Sanna-Cherchi, Simone; Bomback, Andrew S; Canetta, Pietro A; Appel, Gerald B; Radhakrishnan, Jai; Trimarchi, Hernan; Sprangers, Ben; Cattran, Daniel C; Reich, Heather; Pei, York; Ravani, Pietro; Galesic, Kresimir; Maixnerova, Dita; Tesar, Vladimir; Stengel, Benedicte; Metzger, Marie; Canaud, Guillaume; Maillard, Nicolas; Berthoux, Francois; Berthelot, Laureline; Pillebout, Evangeline; Monteiro, Renato; Nelson, Raoul; Wyatt, Robert J; Smoyer, William; Mahan, John; Samhar, Al-Akash; Hidalgo, Guillermo; Quiroga, Alejandro; Weng, Patricia; Sreedharan, Raji; Selewski, David; Davis, Keefe; Kallash, Mahmoud; Vasylyeva, Tetyana L; Rheault, Michelle; Chishti, Aftab; Ranch, Daniel; Wenderfer, Scott E; Samsonov, Dmitry; Claes, Donna J; Akchurin, Oleh; Goumenos, Dimitrios; Stangou, Maria; Nagy, Judit; Kovacs, Tibor; Fiaccadori, Enrico; Amoroso, Antonio; Barlassina, Cristina; Cusi, Daniele; Del Vecchio, Lucia; Battaglia, Giovanni Giorgio; Bodria, Monica; Boer, Emanuela; Bono, Luisa; Boscutti, Giuliano; Caridi, Gianluca; Lugani, Francesca; Ghiggeri, GianMarco; Coppo, Rosanna; Peruzzi, Licia; Esposito, Vittoria; Esposito, Ciro; Feriozzi, Sandro; Polci, Rosaria; Frasca, Giovanni; Galliani, Marco; Garozzo, Maurizio; Mitrotti, Adele; Gesualdo, Loreto; Granata, Simona; Zaza, Gianluigi; Londrino, Francesco; Magistroni, Riccardo; Pisani, Isabella; Magnano, Andrea; Marcantoni, Carmelita; Messa, Piergiorgio; Mignani, Renzo; Pani, Antonello; Ponticelli, Claudio; Roccatello, Dario; Salvadori, Maurizio; Salvi, Erica; Santoro, Domenico; Gembillo, Guido; Savoldi, Silvana; Spotti, Donatella; Zamboli, Pasquale; Izzi, Claudia; Alberici, Federico; Delbarba, Elisa; Florczak, Michał; Krata, Natalia; Mucha, Krzysztof; Pączek, Leszek; Niemczyk, Stanisław; Moszczuk, Barbara; Pańczyk-Tomaszewska, Malgorzata; Mizerska-Wasiak, Malgorzata; Perkowska-Ptasińska, Agnieszka; Bączkowska, Teresa; Durlik, Magdalena; Pawlaczyk, Krzysztof; Sikora, Przemyslaw; Zaniew, Marcin; Kaminska, Dorota; Krajewska, Magdalena; Kuzmiuk-Glembin, Izabella; Heleniak, Zbigniew; Bullo-Piontecka, Barbara; Liberek, Tomasz; Dębska-Slizien, Alicja; Hryszko, Tomasz; Materna-Kiryluk, Anna; Miklaszewska, Monika; Szczepańska, Maria; Dyga, Katarzyna; Machura, Edyta; Siniewicz-Luzeńczyk, Katarzyna; Pawlak-Bratkowska, Monika; Tkaczyk, Marcin; Runowski, Dariusz; Kwella, Norbert; Drożdż, Dorota; Habura, Ireneusz; Kronenberg, Florian; Prikhodina, Larisa; van Heel, David; Fontaine, Bertrand; Cotsapas, Chris; Wijmenga, Cisca; Franke, Andre; Annese, Vito; Gregersen, Peter K; Parameswaran, Sreeja; Weirauch, Matthew; Kottyan, Leah; Harley, John B; Suzuki, Hitoshi; Narita, Ichiei; Goto, Shin; Lee, Hajeong; Kim, Dong Ki; Kim, Yon Su; Park, Jin-Ho; Cho, BeLong; Choi, Murim; Van Wijk, Ans; Huerta, Ana; Ars, Elisabet; Ballarin, Jose; Lundberg, Sigrid; Vogt, Bruno; Mani, Laila-Yasmin; Caliskan, Yasar; Barratt, Jonathan; Abeygunaratne, Thilini; Kalra, Philip A; Gale, Daniel P; Panzer, Ulf; Rauen, Thomas; Floege, Jürgen; Schlosser, Pascal; Ekici, Arif B; Eckardt, Kai-Uwe; Chen, Nan; Xie, Jingyuan; Lifton, Richard P; Loos, Ruth J F; Kenny, Eimear E; Ionita-Laza, Iuliana; Köttgen, Anna; Julian, Bruce A; Novak, Jan; Scolari, Francesco; Zhang, Hong; Gharavi, Ali G; Ayani, *Nobutaka John; Kurokawa, Takuya; Matsumoto, Yoshihiro; Oya, Nozomu; Kitaoka, Riki; Yokoi, Takato; Narumoto, Jin

The impact of common and rare genetic variants on bradyarrhythmia development

常见和罕见基因变异对缓慢性心律失常发展的影响

Weng, Lu-Chen; Rämö, Joel T; Jurgens, Sean J; Khurshid, Shaan; Chaffin, Mark; Hall, Amelia Weber; Morrill, Valerie N; Wang, Xin; Nauffal, Victor; Sun, Yan V; Beer, Dominik; Lee, Simon; Nadkarni, Girish N; Duong, ThuyVy; Wang, Biqi; Czuba, Tomasz; Austin, Thomas R; Yoneda, Zachary T; Friedman, Daniel J; Clayton, Anne; Hyman, Matthew C; Judy, Renae L; Skanes, Allan C; Orland, Kate M; Treu, Timothy M; Oetjens, Matthew T; Alonso, Alvaro; Soliman, Elsayed Z; Lin, Honghuang; Lunetta, Kathryn L; van der Pals, Jesper; Issa, Tariq Z; Nafissi, Navid A; May, Heidi T; Leong-Sit, Peter; Roselli, Carolina; Choi, Seung Hoan; Khan, Habib R; Knight, Stacey; Karlsson Linnér, Richard; Bezzina, Connie R; Ripatti, Samuli; Heckbert, Susan R; Gaziano, J Michael; Loos, Ruth J F; Psaty, Bruce M; Smith, J Gustav; Benjamin, Emelia J; Arking, Dan E; Rader, Daniel J; Shah, Svati H; Roden, Dan M; Damrauer, Scott M; Eckhardt, Lee L; Roberts, Jason D; Cutler, Michael J; Shoemaker, M Benjamin; Haggerty, Christopher M; Cho, Kelly; Palotie, Aarno; Wilson, Peter W F; Ellinor, Patrick T; Lubitz, Steven A