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

The functional landscape of coding variation in the familial hypercholesterolemia gene LDLR.

家族性高胆固醇血症基因 LDLR 编码变异的功能图谱。

Tabet Daniel R, Coté Atina G, Lancaster Megan C, Weile Jochen, Rayhan Ashyad, Fotiadou Iosifina, Kishore Nishka, Li Roujia, Kuang Da, Knapp Jennifer J, Carrero Carmela S, Taverniti Olivia, Axakova Anna, Castelli Jack M P, Islam Mohammad M, Sowlati-Hashjin Shahin, Gandhi Aanshi, Maaieh Ranim, Garton Michael, Matreyek Kenneth, Fowler Douglas M, Bourbon Mafalda, Pfisterer Simon G, Glazer Andrew M, Kroncke Brett M, Parikh Victoria N, Ashley Euan A, Knowles Joshua W, Claussnitzer Melina, Cirulli Elizabeth T, Hegele Robert A, Roden Dan M, MacRae Calum A, Roth Frederick P

Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine

建立变异效应图谱,以解决意义未明的变异,并指导心血管医学研究。

Glazer, Andrew M; Tabet, Daniel R; Parikh, Victoria N; Kroncke, Brett M; Cote, Atina G; Yamamoto, Yuta; Wang, Qianru; Muhammad, Ayesha; Lancaster, Megan C; O'Neill, Matthew J; Weile, Jochen; Yang, Tao; Macrae, Calum A; Ashley, Euan A; Roth, Frederick P; Roden, Dan M

Heterogeneity in clinically diagnosed type 1 diabetes: characterising a unique cohort with maintained C-peptide secretion in Ghana

临床诊断的1型糖尿病的异质性:对加纳C肽分泌持续存在的独特队列进行特征分析

Aniagyei, Wilfred; Sarfo-Kantanka, Osei; Mohayideen, Sumaya; Vivekanandan, Monika M; Adankwah, Ernest; Asibey, Shadrack O; Boateng, Agnes O; Owusu, Elisabeth; Arthur, Joseph F; Yeboah, Augustine; Ahor, Hubert S; Owusu, Dorcas O; Huttasch, Maximilian; Karusheva, Yanislava; Burkart, Volker; Wagner, Robert; Roden, Michael; Balz, Vera; Enczmann, Jürgen; Sterzenbach, Maike; Kummer, Sebastian; Meissner, Thomas; Herebian, Diran; Mayatepek, Ertan; Jacobsen, Marc; Phillips, Richard O; Seyfarth, Julia

Do Community Characteristics Explain Heat‐Related Illness in Seoul, Korea?

社区特征能否解释韩国首尔与高温相关的疾病?

Shade, Ashley; Read, Jordan S; Youngblut, Nicholas D; Fierer, Noah; Knight, Rob; Kratz, Timothy K; Lottig, Noah R; Roden, Eric E; Stanley, Emily H; Stombaugh, Jesse; Whitaker, Rachel J; Wu, Chin H; McMahon, Katherine D; Park, Minyeong; Kang, Jung Eun

Immune cell profiling reveals expanded stem cell-like memory T cells in anti-GAD65-associated neurological syndromes

免疫细胞分析显示,抗GAD65相关神经系统综合征中干细胞样记忆T细胞扩增

Barman, Sumanta; Räuber, Saskia; Eisenhut, Katharina; Esser, Daniela; van Duijn, Martijn; Scharf, Madeleine; Herrera-Rivero, Marisol; Disse, Paul; Preuth, Lara-Maria; Gulyaeva, Valeria; Schwan, Ilja; Vom Stein, Eliza; Jonas, Marius; Pul, Duygu; Heming, Michael; Müller-Miny, Louisa; Paunovic, Manuela; Strippel, Christine; Haholu, Ebru; Bartosch, Jan; Kaufmann, Elisabeth; Dargvainiene, Justina; Kahl, Sabine; Ringelstein, Marius; Bindels, Eric; Wiendl, Heinz; Stoecklein, Nikolas H; Fischer, Johannes; Goebels, Norbert; Komorowski, Lars; Roden, Michael; Rossi, Andrea; Stoll, Monika; Becker, Albert J; Hamed, Motaz; Bien, Christian G; Höftberger, Romana; Bauer, Jan; Meuth, Sven G; Titulaer, Maarten J; Leypoldt, Frank; Meyer zu Hörste, Gerd; Thaler, Franziska; Melzer, Nico

A novel extracellular flux assay workflow uncovers impaired sciatic nerve mitochondrial respiration in diabetic db/db mice

一种新型的细胞外通量检测方法揭示了糖尿病db/db小鼠坐骨神经线粒体呼吸功能受损。

Sill, Sebastian; Ouwens, D Margriet; Zivehe, Fariba; Hartwig, Sonja; Lehr, Stefan; Bönhof, Gidon J; Roden, Michael; Al-Hasani, Hadi; Chadt, Alexandra; Strom, Alexander

Return of genome-informed risk-assessment results for common conditions to 23,840 adults and children: An eMERGE network study

向 23,840 名成人和儿童反馈常见疾病的基因组信息风险评估结果:一项 eMERGE 网络研究

Lawson, Lucinda P; Prows, Cynthia A; Cortopassi, Josh; Davis, Kyle W; Head, Madilyn; Martin, Lisa J; Perez, Emma F; Sobowale, Agboade; Abul-Husn, Noura S; Bangash, Hana; Bland, Harris T; Bonini, Katherine E; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John J; Crosslin, David R; Freimuth, Robert R; Goff, Blake; Gordon, Adam S; Hakonarson, Hakon; Harr, Margaret H; Henricks, Emma; Hernandez, Valentina; Hoell, Christin; Holm, Ingrid A; Hripcsak, George; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Kottyan, Leah C; Lennon, Niall J; Limdi, Nita; Linder, Jodell E; Liu, Cong; Manolio, Teri A; Maradik, Mary A; Marathe, Priya N; Maripuri, Devi P; McNally, Elizabeth M; Murphy, Shawn N; Naderian, Mohammadreza; Namjou, Bahram; Odgis, Jacqueline A; Peterson, Josh F; Pineda-Alvarez, Daniel E; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura J; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Scherr, Courtney L; Shaibi, Gabriel Q; Sharp, Richard R; Smoller, Jordan W; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Ting, Yi-Lee; Velez Edwards, Digna R; Walunas, Theresa L; Wei, Wei-Qi; Weng, Chunhua; Wiesner, Georgia L; Xian, Su; Jarvik, Gail P; Kullo, Iftikhar

The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments

电子病历与基因组学研究:评估基因组信息风险评估影响的设计和分析框架

Limdi, Nita; Beasley, T Mark; Cortopassi, Josh; Davis, Brittney; Bangash, Hana; Chen, Jingheng; Chisholm, Rex L; Chung, Wendy K; Cimino, James J; Connolly, John; Crosslin, David R; Davis, Kyle W; DiVietro, Alanna; Esplin, Edward D; Freimuth, Bob; Gordon, Adam; Hakonarson, Hakon; Hamed, Marwan; He, Megan; Hoell, Christin; Holm, Ingrid; Hripscak, George; Irvin, Margurite R; Jarvik, Gail P; Karavite, Dean; Karlson, Elizabeth W; Kenny, Eimear E; Khan, Atlas; Kiryluk, Krzysztof; Knerr, Sarah; Korf, Bruce; Kottyan, Leah; Kullo, Iftikhar; Larkin, Katie; Lennon, Niall; Linder, Jodell E; Manolio, Teri; Martin, Lisa J; McNally, Elizabeth M; Morse, Jennifer; Murphy, Shawn; Namjou, Bahram; Odgis, Jacqueline A; Orlando, Lori; Pacheco, Jennifer; Peterson, Josh F; Pineda-Alvarez, Daniel E; Prows, Cindy; Puckelwartz, Megan; Purcell, Jasmine; Rasmussen-Torvik, Laura; Rehm, Heidi; Roden, Dan M; Rosenthal, Elisabeth A; Rowley, Robb; Sabatello, Maya; Schaid, Daniel; Sharp, Richard; Smith, Johanna L; Smoller, Jordan W; Soper, Emily R; Sterling, Rene; Suckiel, Sabrina A; Terek, Shannon; Thayer, Jeritt; Ting, Yi-Lee; Tiwari, Hemant; Velez-Edwards, Digna; Wagholikar, Kavishwar B; Walunas, Theresa; Wei, Wei-Qi; Weng, Chunua; Wiesner, Georgia; Abul-Husn, Noura S; Veenstra, David L

Lessons learned from implementing FAIRification workflows in diabetes research in Germany

德国糖尿病研究中实施 FAIR 化工作流程的经验教训

Inau, Esther Thea; Dedié, Angela; Anastasova, Ivona; Schick, Renate; Fröhlich, Brigitte; Roden, Michael; Birkenfeld, Andreas L; de Angelis, Martin Hrabě; Preusse, Martin; Waltemath, Dagmar; Zeleke, Atinkut Alamirrew

Corrigendum to "Transient juvenile hypoglycemia in GH insensitive Laron syndrome pigs is associated with insulin hypersensitivity" [Mol Metabol (2025) 102273]

对“生长激素不敏感的拉伦综合征猪的短暂性幼年低血糖与胰岛素高敏感性有关”的更正[Mol Metabol (2025) 102273]

Hinrichs, Arne; Pafili, Kalliopi; Sancar, Gencer; Laane, Laeticia; Zettler, Silja; Torgeman, Malek; Kessler, Barbara; Nono, Judith Leonie; Kunz, Sonja; Rathkolb, Birgit; Barosa, Cristina; Prehn, Cornelia; Cecil, Alexander; Renner, Simone; Kemter, Elisabeth; Kahl, Sabine; Szendroedi, Julia; Bidlingmaier, Martin; Jones, John Griffith; Hrabĕ de Angelis, Martin; Roden, Michael; Wolf, Eckhard