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

Gene Portals: A Framework for Integrating Clinical, Functional, and Structural Evidence into Rare Disease Variant Classification

基因门户:将临床、功能和结构证据整合到罕见病变异分类中的框架

Brünger, Tobias; Krey, Ilona; Kim, Suyeon; Klöckner, Chiara; Myers, Scott J; Johannesen, Katrine M; Stefanski, Arthur; Taylor, Gary; Perez-Palma, Eduardo; Macnee, Marie; Schorge, Stephanie; Dahl, Rebekka S; Yuan, Hongjie; Perszyk, Riley E; Kim, Sukhan; Bajaj, Sunanjay; Helbig, Ingo; Pan, Jen Q; Farrant, Mark; Wollmuth, Lonnie; Wyllie, David J A; Kurganov, Erkin; Baez, David; Zuberi, Sameer; Boßelmann, Christian M; Lerche, Holger; Mantegazza, Massimo; Cestèle, Sandrine; May, Patrick; Ivaniuk, Alina; Meskis, Mary Anne; Hood, Veronica; Schust, Leah; Goodspeed, Kimberly; Kang, Jing-Qiong; Freed, Amber; Gati, Cornelius; Montanucci, Ludovica; Wuster, Arthur; Trinidad, Marena; Froelich, Steven; Deng, Alexander T; Serrano, Ángel Aledo; Borovikov, Artem; Sharkov, Artem; Bouman, Arjan; Hajianpour, M J; Pal, Deb K; Danvoye, Leslie; Lederer, Damien; Balci, Tugce R; Hagebeuk, Eveline E O; Heidlebaugh, Alexis; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Williams, Sarah Drewes; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; Benke, Tim A; Strehlow, Vincent; Platzer, Konrad; Ramsey, Amy; Manaster, Lisa; Malepati, Sunitha; Fox, Pangkong; Noebels, Jeffrey; Chung, Wendy; Poduri, Annapurna; Stripe, Laina Lusk; Ruggiero, Sarah M; Cohen, Stacey; Smith, Lacey; Boesch, Sylvia; Wilmarth, Olivia; Prentice, Anna Jenne; Cha, Esther; Budnik, Nikita; Hommersom, Marina P; Kramer, Audra; Vanoye, Carlos G; Zhang, Guo-Qiang; Nothnagel, Michael; Palotie, Aarno; Daly, Mark J; George, Alfred L Jr; Zarate, Yuri A; Brunklaus, Andreas; Traynelis, Stephen F; Møller, Rikke S; Lemke, Johannes R; Lal, Dennis

Plasma Metabolic Outliers Identified in Estonian Human Knockouts

在爱沙尼亚人类基因敲除小鼠中发现血浆代谢异常值

Yu, Ketian; Estonian Biobank Research Team; Estrada, Karol; Esko, Tõnu; Kals, Mart; Nikopensius, Tiit; Kronberg, Jaanika; Võsa, Urmo; Wuster, Arthur; Bomba, Lorenzo

Haploinsufficiency underlies the neurodevelopmental consequences of SLC6A1 variants

单倍体不足是SLC6A1变异导致神经发育后果的根本原因。

Silva, Dina Buitrago; Trinidad, Marena; Ljungdahl, Alicia; Revalde, Jezrael L; Berguig, Geoffrey Y; Wallace, William; Patrick, Cory S; Bomba, Lorenzo; Arkin, Michelle; Dong, Shan; Estrada, Karol; Hutchinson, Keino; LeBowitz, Jonathan H; Schlessinger, Avner; Johannesen, Katrine M; Møller, Rikke S; Giacomini, Kathleen M; Froelich, Steven; Sanders, Stephan J; Wuster, Arthur

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis

SLC6A1变异体的致病性、分子功能和表型:一项遗传和临床分析

Stefanski, Arthur; Pérez-Palma, Eduardo; Brünger, Tobias; Montanucci, Ludovica; Gati, Cornelius; Klöckner, Chiara; Johannesen, Katrine M; Goodspeed, Kimberly; Macnee, Marie; Deng, Alexander T; Aledo-Serrano, Ángel; Borovikov, Artem; Kava, Maina; Bouman, Arjan M; Hajianpour, M J; Pal, Deb K; Engelen, Marc; Hagebeuk, Eveline E O; Shinawi, Marwan; Heidlebaugh, Alexis R; Oetjens, Kathryn; Hoffman, Trevor L; Striano, Pasquale; Freed, Amanda S; Futtrup, Line; Balslev, Thomas; Abulí, Anna; Danvoye, Leslie; Lederer, Damien; Balci, Tugce; Nouri, Maryam Nabavi; Butler, Elizabeth; Drewes, Sarah; van Engelen, Kalene; Howell, Katherine B; Khoury, Jean; May, Patrick; Trinidad, Marena; Froelich, Steven; Lemke, Johannes R; Tiller, Jacob; Freed, Amber N; Kang, Jing-Qiong; Wuster, Arthur; Møller, Rikke S; Lal, Dennis

Rare CIDEC coding variants enriched in age-related macular degeneration patients with small low-luminance deficit cause lipid droplet and fat storage defects

年龄相关性黄斑变性患者中富含罕见的 CIDEC 编码变异,这些变异具有较小的低亮度缺陷,导致脂滴和脂肪储存缺陷

Sehyun Kim, Amy Stockwell, Han Qin, Simon S Gao, Meredith Sagolla, Ivaylo Stoilov, Arthur Wuster, Phillip Lai, Brian L Yaspan, Marion Jeanne

Bacterial Adaptation to Venom in Snakes and Arachnida

细菌对蛇和蛛形纲动物毒液的适应

Esmaeilishirazifard, Elham; Usher, Louise; Trim, Carol; Denise, Hubert; Sangal, Vartul; Tyson, Gregory H; Barlow, Axel; Redway, Keith F; Taylor, John D; Kremyda-Vlachou, Myrto; Davies, Sam; Loftus, Teresa D; Lock, Mikaella M G; Wright, Kstir; Dalby, Andrew; Snyder, Lori A S; Wuster, Wolfgang; Trim, Steve; Moschos, Sterghios A

Identifying therapeutic drug targets using bidirectional effect genes

利用双向效应基因识别治疗药物靶点

Karol Estrada, Steven Froelich, Arthur Wuster, Christopher R Bauer, Teague Sterling, Wyatt T Clark, Yuanbin Ru, Marena Trinidad, Hong Phuc Nguyen, Amanda R Luu, Daniel J Wendt, Gouri Yogalingam, Guoying Karen Yu, Jonathan H LeBowitz, Lon R Cardon

Previously reported placebo-response-associated variants do not predict patient outcomes in inflammatory disease Phase III trial placebo arms

先前报道的与安慰剂反应相关的变异体并不能预测炎症性疾病 III 期临床试验安慰剂组的患者预后。

Haug-Baltzell, Asher; Bhangale, Tushar R; Chang, Diana; Dressen, Amy; Yaspan, Brian L; Ortmann, Ward; Brauer, Matthew J; Hunkapiller, Julie; Reeder, Jens; Mukhyala, Kiran; Cuenco, Karen T; Tom, Jennifer A; Cowgill, Amy; Vogel, Jan; Forrest, William F; Behrens, Timothy W; Graham, Robert R; Wuster, Arthur

LACC1 Regulates TNF and IL-17 in Mouse Models of Arthritis and Inflammation

LACC1 在小鼠关节炎和炎症模型中调节 TNF 和 IL-17

Cara Skon-Hegg, Juan Zhang, Xiumin Wu, Meredith Sagolla, Naruhisa Ota, Arthur Wuster, Jennifer Tom, Emma Doran, Nandhini Ramamoorthi, Patrick Caplazi, John Monroe, Wyne P Lee, Timothy W Behrens

Influence of genetic copy number variants of the human GLUT3 glucose transporter gene SLC2A3 on protein expression, glycolysis and rheumatoid arthritis risk: A genetic replication study

人类GLUT3葡萄糖转运蛋白基因SLC2A3的遗传拷贝数变异对蛋白质表达、糖酵解和类风湿性关节炎风险的影响:一项遗传复制研究

Simpfendorfer, Kim R; Li, Wentian; Shih, Andrew; Wen, Hongxiu; Kothari, Harini P; Einsidler, Edward A; Wuster, Arthur; Hunkapiller, Julie; Behrens, Timothy W; Graham, Robert R; Townsend, Michael J; Behar, Doron M; Hu, Rui; Greenspan, Elliott; Gregersen, Peter K