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

Comparative Real-World Efficacy of Anti-Vascular Endothelial Growth Factor Agents in Neovascular Age-Related Macular Degeneration: A Multicenter Retrospective Study

抗血管内皮生长因子药物治疗新生血管性年龄相关性黄斑变性的真实世界疗效比较:一项多中心回顾性研究

Berco, Efraim; Kozlov, Yuval; Ostrovsky, Michael; Tuli, Raman; Kin Man Lee, Thomas; Samocha, Ksenia; Shcolnik, Eilon; Goldfeather Ben Zaken, Shalhevet; Shoham-Hazon, Nir

Tirzepatide in Adults With Type 1 Diabetes: A Phase 2 Randomized Placebo-Controlled Clinical Trial

替拉帕肽治疗1型糖尿病成人患者:一项2期随机安慰剂对照临床试验

Snaith, Jennifer R; Frampton, Ruth; Samocha-Bonet, Dorit; Greenfield, Jerry R

Integrating 730,947 exome sequences with clinical literature improves gene discovery

将730,947个外显子组序列与临床文献整合,可提高基因发现率。

Guez, Jeremy; Goodrich, Julia K; Moldovan, Mikhail A; Chao, Katherine R; Kar, Prathitha; Panchal, Ruchit; Wilson, Michael W; Laricchia, Kristen M; Rohlicek, Greg; Biba, Dmitry; Marten, Daniel; He, Qin; Darnowsky, Philip W; Grant, Riley; Weisburd, Ben; Baxter, Samantha M; Nadeau, Joshua; Lu, Wenhan; Jahl, Steve; Parsa, Sophie; Lamane, Abdallah; DiTroia, Stephanie; Fu, Jack; Zhao, Xuefang; Alarmani, Elissa; Tolonen, Charlotte; Novod, Sam; Bryant, Sam; Stevens, Christine; Chapman, Sinéad B; Cusick, Caroline; Vittal, Christopher; Gauthier, Laura D; Goldstein, Jacqueline I; Goldstein, Daniel; King, Daniel; Poterba, Timothy; Tiao, Grace; Tranchero, Matteo; Lotter, William; MacArthur, Daniel G; Brand, Harrison; Seplyarskiy, Vladimir; Koch, Evan; Talkowski, Michael E; Solomonson, Matthew; Neale, Benjamin M; O'Donnell-Luria, Anne; Finucane, Hilary K; Sunyaev, Shamil R; Daly, Mark J; Rehm, Heidi L; Samocha, Kaitlin E; Karczewski, Konrad J

GREGoR: accelerating genomics for rare diseases

GREGoR:加速罕见病基因组学研究

Dawood, Moez; Heavner, Ben; Wheeler, Marsha M; Ungar, Rachel A; LoTempio, Jonathan; Wiel, Laurens; Berger, Seth; Bernstein, Jonathan A; Chong, Jessica X; Délot, Emmanuèle C; Eichler, Evan E; Lupski, James R; Shojaie, Ali; Talkowski, Michael E; Wagner, Alex H; Wei, Chia-Lin; Wellington, Christopher; Wheeler, Matthew T; Carvalho, Claudia M B; Gibbs, Richard A; Gifford, Casey A; May, Susanne; Miller, Danny E; Rehm, Heidi L; Samocha, Kaitlin E; Sedlazeck, Fritz J; Vilain, Eric; O'Donnell-Luria, Anne; Posey, Jennifer E; Chadwick, Lisa H; Bamshad, Michael J; Montgomery, Stephen B

Effect of metformin on insulin resistance in adults with type 1 diabetes: a 26-week randomized double-blind clinical trial

二甲双胍对1型糖尿病成人胰岛素抵抗的影响:一项为期26周的随机双盲临床试验

Snaith, Jennifer R; Olsen, Nick; Evans, Jennifer; Kowalski, Greg M; Bruce, Clinton R; Samocha-Bonet, Dorit; Breit, Samuel N; Holmes-Walker, Deborah J; Greenfield, Jerry R

Oral Microbial Diversity is Associated with Biologic Treatment and Metabolic Health Status but not with Disease Activity in Patients with Inflammatory Bowel Disease

口腔微生物多样性与炎症性肠病患者的生物治疗和代谢健康状况相关,但与疾病活动度无关。

Wark, Gabrielle; Kaakoush, Nadeem O; Samocha-Bonet, Dorit; Ghaly, Simon; Danta, Mark

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

可扩展的基因组数据自动化再分析在研究和临床罕见病队列中的应用

Welland, Matthew J; Ahlquist, K D; De Fazio, Paul; Austin-Tse, Christina; Pais, Lynn; Wedd, Laura; Bryen, Samantha; Rius, Rocio; Franklin, Michael; Morrison, Caitlin; Hall, Giles; Gauthier, Laura; Bloemendal, Alex; Francis, David I; Mallett, Andrew J; Mallawaarachchi, Amali; Lockhart, Paul J; Leventer, Richard; Scheffer, Ingrid E; Howell, Katherine B; Kassahn, Karin S; Scott, Hamish S; McGaughran, Julie; Christodoulou, John; Thorburn, David R; Thompson, Bryony A; Patel, Chirag V; Smith, Greg; O'Donnell-Luria, Anne; Sadedin, Simon; Rehm, Heidi L; Lunke, Sebastian; Wander, Jeremiah; Samocha, Kaitlin E; Simons, Cas; MacArthur, Daniel G; Stark, Zornitza

Examining the role of common variants in rare neurodevelopmental conditions

研究常见变异在罕见神经发育障碍中的作用

Huang, Qin Qin; Wigdor, Emilie M; Malawsky, Daniel S; Campbell, Patrick; Samocha, Kaitlin E; Chundru, V Kartik; Danecek, Petr; Lindsay, Sarah; Marchant, Thomas; Koko, Mahmoud; Amanat, Sana; Bonfanti, Davide; Sheridan, Eamonn; Radford, Elizabeth J; Barrett, Jeffrey C; Wright, Caroline F; Firth, Helen V; Warrier, Varun; Strudwick Young, Alexander; Hurles, Matthew E; Martin, Hilary C

Federated analysis of autosomal recessive coding variants in 29,745 developmental disorder patients from diverse populations

对来自不同人群的 29,745 名发育障碍患者的常染色体隐性编码变异进行联合分析

Chundru, V Kartik; Zhang, Zhancheng; Walter, Klaudia; Lindsay, Sarah J; Danecek, Petr; Eberhardt, Ruth Y; Gardner, Eugene J; Malawsky, Daniel S; Wigdor, Emilie M; Torene, Rebecca; Retterer, Kyle; Wright, Caroline F; Ólafsdóttir, Hildur; Guillen Sacoto, Maria J; Ayaz, Akif; Akbeyaz, Ismail Hakki; Türkdoğan, Dilşad; Al Balushi, Aaisha Ibrahim; Bertoli-Avella, Aida; Bauer, Peter; Szenker-Ravi, Emmanuelle; Reversade, Bruno; McWalter, Kirsty; Sheridan, Eamonn; Firth, Helen V; Hurles, Matthew E; Samocha, Kaitlin E; Ustach, Vincent D; Martin, Hilary C

Inferring compound heterozygosity from large-scale exome sequencing data

从大规模外显子组测序数据推断复合杂合性

Guo, Michael H; Francioli, Laurent C; Stenton, Sarah L; Goodrich, Julia K; Watts, Nicholas A; Singer-Berk, Moriel; Groopman, Emily; Darnowsky, Philip W; Solomonson, Matthew; Baxter, Samantha; Tiao, Grace; Neale, Benjamin M; Hirschhorn, Joel N; Rehm, Heidi L; Daly, Mark J; O'Donnell-Luria, Anne; Karczewski, Konrad J; MacArthur, Daniel G; Samocha, Kaitlin E