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

Whole genome sequencing analysis of body mass index identifies novel African ancestry-specific risk allele

通过对体重指数进行全基因组测序分析,发现了一种新的非洲血统特异性风险等位基因。

Zhang, Xinruo; Brody, Jennifer A; Graff, Mariaelisa; Highland, Heather M; Chami, Nathalie; Xu, Hanfei; Wang, Zhe; Ferrier, Kendra R; Chittoor, Geetha; Josyula, Navya Shilpa; Meyer, Mariah; Gupta, Shreyash; Li, Xihao; Li, Zilin; Allison, Matthew A; Becker, Diane M; Bielak, Lawrence F; Bis, Joshua C; Boorgula, Meher Preethi; Bowden, Donald W; Broome, Jai G; Buth, Erin J; Carlson, Christopher S; Chang, Kyong-Mi; Chavan, Sameer; Chiu, Yen-Feng; Chuang, Lee-Ming; Conomos, Matthew P; DeMeo, Dawn L; Du, Mengmeng; Duggirala, Ravindranath; Eng, Celeste; Fohner, Alison E; Freedman, Barry I; Garrett, Melanie E; Guo, Xiuqing; Haiman, Chris; Heavner, Benjamin D; Hidalgo, Bertha; Hixson, James E; Ho, Yuk-Lam; Hobbs, Brian D; Hu, Donglei; Hui, Qin; Hwu, Chii-Min; Jackson, Rebecca D; Jain, Deepti; Kalyani, Rita R; Kardia, Sharon L R; Kelly, Tanika N; Lange, Ethan M; LeNoir, Michael; Li, Changwei; Le Marchand, Loic; McDonald, Merry-Lynn N; McHugh, Caitlin P; Morrison, Alanna C; Naseri, Take; O'Connell, Jeffrey; O'Donnell, Christopher J; Palmer, Nicholette D; Pankow, James S; Perry, James A; Peters, Ulrike; Preuss, Michael H; Rao, D C; Regan, Elizabeth A; Reupena, Sefuiva M; Roden, Dan M; Rodriguez-Santana, Jose; Sitlani, Colleen M; Smith, Jennifer A; Tiwari, Hemant K; Vasan, Ramachandran S; Wang, Zeyuan; Weeks, Daniel E; Wessel, Jennifer; Wiggins, Kerri L; Wilkens, Lynne R; Wilson, Peter W F; Yanek, Lisa R; Yoneda, Zachary T; Zhao, Wei; Zöllner, Sebastian; Arnett, Donna K; Ashley-Koch, Allison E; Barnes, Kathleen C; Blangero, John; Boerwinkle, Eric; Burchard, Esteban G; Carson, April P; Chasman, Daniel I; Ida Chen, Yii-Der; Curran, Joanne E; Fornage, Myriam; Gordeuk, Victor R; He, Jiang; Heckbert, Susan R; Hou, Lifang; Irvin, Marguerite R; Kooperberg, Charles; Minster, Ryan L; Mitchell, Braxton D; Nouraie, Mehdi; Psaty, Bruce M; Raffield, Laura M; Reiner, Alexander P; Rich, Stephen S; Rotter, Jerome I; Benjamin Shoemaker, M; Smith, Nicholas L; Taylor, Kent D; Telen, Marilyn J; Weiss, Scott T; Zhang, Yingze; Heard-Costa, Nancy; Sun, Yan V; Lin, Xihong; Cupples, L Adrienne; Lange, Leslie A; Liu, Ching-Ti; Loos, Ruth J F; North, Kari E; Justice, Anne E

Targeting PIEZO1-TMEM16F Coupling to Mitigate Sickle Cell Disease Complications

靶向PIEZO1-TMEM16F偶联以减轻镰状细胞病并发症

Liang, Pengfei; Wan, Yui-Chun S; Shan, Ke Z; Chou, Ryan; Zhang, Yang; Delahunty, Martha; Khandelwal, Sanjay; Francis, Samuel J; Arepally, Gowthami M; Telen, Marilyn J; Yang, Huanghe

A replication study of novel fetal hemoglobin-associated genetic variants in sickle cell disease-only cohorts

一项针对仅患有镰状细胞病的队列中新型胎儿血红蛋白相关基因变异的重复研究

Yann Ilboudo ,Nicolas Brosseau ,Ken Sin Lo ,Hicham Belhaj ,Stéphane Moutereau ,Kwesi Marshall ,Marvin Reid ,Abdullah Kutlar ,Allison E Ashley-Koch ,Marilyn J Telen ,Philippe Joly ,Frédéric Galactéros ,Pablo Bartolucci ,Guillaume Lettre

Genetic modifiers of frequent vaso-occlusive hospitalizations among individuals with sickle cell disease (SCD)

镰状细胞病(SCD)患者频繁发生血管阻塞性住院的遗传修饰因素

Ozahata, Mina Cintho; Gomes, Isabel; Oliveira, Beatriz A; Park, Miriam; Rodrigues, Daniela O W; Carneiro-Proietti, Anna Bárbara; Máximo, Cláudia; Ashley-Koch, Allison; Telen, Marilyn; Kelly, Shannon; Custer, Brian; Sabino, Ester Cerdeira; Dinardo, Carla Luana

Targeting PIEZO1-TMEM16F Coupling to Mitigate Sickle Cell Disease Complications

靶向PIEZO1-TMEM16F偶联以减轻镰状细胞病并发症

Liang, Pengfei; Wan, Yui-Chun Serena; Shan, Ke Zoe; Chou, Ryan; Zhang, Yang; Delahunty, Martha; Khandelwal, Sanjay; Francis, Samuel J; Arepally, Gowthami M; Telen, Marilyn J; Yang, Huanghe

Riociguat in patients with sickle cell disease and hypertension or proteinuria (STERIO-SCD): a randomised, double-blind, placebo controlled, phase 1-2 trial

利奥西呱治疗伴有高血压或蛋白尿的镰状细胞病患者(STERIO-SCD):一项随机、双盲、安慰剂对照的1/2期试验

Gladwin, Mark T; Gordeuk, Victor R; Desai, Payal C; Minniti, Caterina; Novelli, Enrico M; Morris, Claudia R; Ataga, Kenneth I; De Castro, Laura; Curtis, Susanna A; El Rassi, Fuad; Ford, Hubert James; Harrington, Thomas; Klings, Elizabeth S; Lanzkron, Sophie; Liles, Darla; Little, Jane; Nero, Alecia; Smith, Wally; Taylor, James G 6th; Baptiste, Ayanna; Hagar, Ward; Kanter, Julie; Kinzie, Amy; Martin, Temeia; Rafique, Amina; Telen, Marilyn J; Lalama, Christina M; Kato, Gregory J; Abebe, Kaleab Z

Whole-genome sequencing in 333,100 individuals reveals rare non-coding single variant and aggregate associations with height

对 333,100 名个体进行全基因组测序,揭示了罕见的非编码单变异和与身高相关的聚集性变异

Hawkes, Gareth; Beaumont, Robin N; Li, Zilin; Mandla, Ravi; Li, Xihao; Albert, Christine M; Arnett, Donna K; Ashley-Koch, Allison E; Ashrani, Aneel A; Barnes, Kathleen C; Boerwinkle, Eric; Brody, Jennifer A; Carson, April P; Chami, Nathalie; Chen, Yii-Der Ida; Chung, Mina K; Curran, Joanne E; Darbar, Dawood; Ellinor, Patrick T; Fornage, Myrian; Gordeuk, Victor R; Guo, Xiuqing; He, Jiang; Hwu, Chii-Min; Kalyani, Rita R; Kaplan, Robert; Kardia, Sharon L R; Kooperberg, Charles; Loos, Ruth J F; Lubitz, Steven A; Minster, Ryan L; Naseri, Take; Viali, Satupa'itea; Mitchell, Braxton D; Murabito, Joanne M; Palmer, Nicholette D; Psaty, Bruce M; Redline, Susan; Shoemaker, M Benjamin; Silverman, Edwin K; Telen, Marilyn J; Weiss, Scott T; Yanek, Lisa R; Zhou, Hufeng; Liu, Ching-Ti; North, Kari E; Justice, Anne E; Locke, Jonathan M; Owens, Nick; Murray, Anna; Patel, Kashyap; Frayling, Timothy M; Wright, Caroline F; Wood, Andrew R; Lin, Xihong; Manning, Alisa; Weedon, Michael N

The critical role of symptom experience on risk tolerance for gene therapy

症状体验对基因治疗风险承受能力的关键作用

Gonzalez Sepulveda, Juan Marcos; Reed, Shelby D; Telen, Marilyn

Multicenter, phase 1 study of etavopivat (FT-4202) treatment for up to 12 weeks in patients with sickle cell disease

一项针对镰状细胞病患者的依他伐匹伐(FT-4202)治疗长达12周的多中心I期研究

Saraf, Santosh L; Hagar, Robert; Idowu, Modupe; Osunkwo, Ifeyinwa; Cruz, Kimberly; Kuypers, Frans A; Brown, R Clark; Geib, James; Ribadeneira, Maria; Schroeder, Patricia; Wu, Eric; Forsyth, Sanjeev; Kelly, Patrick F; Kalfa, Theodosia A; Telen, Marilyn J

Standard Compared With Extended Red Blood Cell Antigen Matching for Prevention of Subsequent Hemolytic Disease of the Fetus and Newborn: A Systematic Review

标准红细胞抗原配型与扩展红细胞抗原配型在预防胎儿和新生儿溶血病方面的比较:一项系统评价

Sugrue, Ronan P; Olsen, Jaxon; Abi Antoun, Marie Elise; Skalla, Lesley A; Cate, Jennifer; James, Andra H; Stonehill, Alexandra; Watkins, Virginia; Telen, Marilyn J; Federspiel, Jerome J