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

Prophylaxis for von Willebrand disease: Is it time for parity with established practice in hemophilia A?

预防血管性血友病:是否应该与 A 型血友病的既定做法保持一致?

Sidonio, Robert F Jr; Corrales-Medina, Fernando F; Johnsen, Jill M; Sholzberg, Michelle; Malcolmson, Caroline; Connell, Nathan T

A scalable approach to resolving variants of uncertain significance

一种解决意义不确定变异的可扩展方法

Tejura, Malvika; Chen, Yile; McEwen, Abbye E; Stewart, Ross; Sverchkov, Yuriy; Laval, Florent; Woo, Ivan; Zeiberg, Daniel; Shen, Runxi; Fayer, Shawn; Stone, Jeremy; Smith, Nahum; Casadei, Silvia; Wang, Ziyu R; Snyder, Matthew W; Capodanno, Benjamin J; Gupta, Pankhuri; Benazouz, Mariam; Jain, Shantanu; Heidl, Sarah; Muffley, Lara; Dong, Shengcheng; Hitz, Benjamin C; Gabdank, Idan; Lin, Khine; Da, Estelle Y; Best, Sabrina; Grindstaff, Sally; Reinhart, David; Rodriguez-Salas, Leslie; Seid, Obsa; Vandi, Allyssa J; Wenman, Cameron; Wheelock, Melinda K; Pendyala, Sriram; Holmes, Dan; Xu, Alicia; Hosokai, Airi; Tixhon, Maxime; Reno, Chloe; Ewald, Jessica D; Spirohn-Fitzgerald, Kerstin; Teelucksingh, Tanisha; Hao, Tong; Chen, Zitong S; Haghighi, Marzieh; Hamid, Ahmad Kamal; Miglietta, Esteban A; Weisbart, Erin; Coppin, Georges; Lambourne, Luke; Gebbia, Marinella; Coté, Atina G; van Loggerenberg, Warren; Fawcett, Kirby M; Steiner, Robert D; Johnsen, Jill M; Stergachis, Andrew B; Iakoucheva, Lilia M; Singh, Shantanu; Cimini, Beth A; Roth, Frederick P; James, Richard G; Vidal, Marc; Taipale, Mikko; Carpenter, Anne E; Calderwood, Michael A; Craven, Mark; Pejaver, Vikas; Rubin, Alan F; Radivojac, Predrag; Fowler, Douglas M; Starita, Lea M

Multiplex and multimodal mapping of variant effects in secreted proteins via MultiSTEP

利用 MultiSTEP 技术对分泌蛋白中的变异效应进行多重和多模态映射

Popp, Nicholas A; Powell, Rachel L; Wheelock, Melinda K; Holmes, Kristen J; Zapp, Brendan D; Sheldon, Kathryn M; Fletcher, Shelley N; Wu, Xiaoping; Fayer, Shawn; Rubin, Alan F; Lannert, Kerry W; Chang, Alexis T; Sheehan, John P; Johnsen, Jill M; Fowler, Douglas M

Genetic study of von Willebrand factor antigen levels ≤ 50 IU/dL identifies variants associated with increased risk of von Willebrand disease and bleeding

对血管性血友病因子抗原水平≤50 IU/dL的基因研究可识别与血管性血友病和出血风险增加相关的变异。

Friedman, Rachel K; Heath, Adam S; Huffman, Jennifer E; Baker, James T; Hasbani, Natalie R; Gagliano Taliun, Sarah A; Chen, Ming-Huei; Howard, Tom E; Lewis, Joshua P; Pankratz, Nathan; Patil, Snehal; Reiner, Alex P; Thibord, Florian; Yanek, Lisa R; Yao, Jie; Chen, Hung-Hsin; Curran, Joanne E; Faraday, Nauder; Guo, Xiuqing; Wheeler, Marsha M; Ryan, Kathleen A; Zhou, Xiang; Cho, Kelly; Almasy, Laura; Auer, Paul L; Becker, Lewis C; Wilson, Peter W F; Boerwinkle, Eric; O'Connell, Jeffrey R; Rich, Stephen S; Samuels, David C; Blangero, John; Fornage, Myriam; Kooperberg, Charles; Mathias, Rasika A; Mitchell, Braxton D; Rotter, Jerome I; Johnson, Andrew D; Smith, Nicholas L; Coban-Akdemir, Zeynep H; Below, Jennifer E; Morrison, Alanna C; Johnsen, Jill M; de Vries, Paul S

F8 Variants and Inhibitor Development in a Multiethnic Cohort of Nonsevere Haemophilia A

在多民族非重型血友病A患者队列中,F8变异体与抑制剂的产生情况研究

Lim, Ming Y; Lee, Kristy; Johnsen, Jill M; Key, Nigel S

Multiplex, multimodal mapping of variant effects in secreted proteins

分泌蛋白变异效应的多重、多模态映射

Popp, Nicholas A; Powell, Rachel L; Wheelock, Melinda K; Holmes, Kristen J; Zapp, Brendan D; Sheldon, Kathryn M; Fletcher, Shelley N; Wu, Xiaoping; Fayer, Shawn; Rubin, Alan F; Lannert, Kerry W; Chang, Alexis T; Sheehan, John P; Johnsen, Jill M; Fowler, Douglas M

Genetics of Latin American Diversity Project: Insights into population genetics and association studies in admixed groups in the Americas

拉丁美洲多样性遗传学项目:深入了解美洲混合人群的群体遗传学和关联研究

Borda, Victor; Loesch, Douglas P; Guo, Bing; Laboulaye, Roland; Veliz-Otani, Diego; French, Jennifer N; Leal, Thiago Peixoto; Gogarten, Stephanie M; Ikpe, Sunday; Gouveia, Mateus H; Mendes, Marla; Abecasis, Gonçalo R; Alvim, Isabela; Arboleda-Bustos, Carlos E; Arboleda, Gonzalo; Arboleda, Humberto; Barreto, Mauricio L; Barwick, Lucas; Bezzera, Marcos A; Blangero, John; Borges, Vanderci; Caceres, Omar; Cai, Jianwen; Chana-Cuevas, Pedro; Chen, Zhanghua; Custer, Brian; Dean, Michael; Dinardo, Carla; Domingos, Igor; Duggirala, Ravindranath; Dieguez, Elena; Fernandez, Willian; Ferraz, Henrique B; Gilliland, Frank; Guio, Heinner; Horta, Bernardo; Curran, Joanne E; Johnsen, Jill M; Kaplan, Robert C; Kelly, Shannon; Kenny, Eimear E; Konkle, Barbara A; Kooperberg, Charles; Lescano, Andres; Lima-Costa, M Fernanda; Loos, Ruth J F; Manichaikul, Ani; Meyers, Deborah A; Naslavsky, Michel S; Nickerson, Deborah A; North, Kari E; Padilla, Carlos; Preuss, Michael; Raggio, Victor; Reiner, Alexander P; Rich, Stephen S; Rieder, Carlos R; Rienstra, Michiel; Rotter, Jerome I; Rundek, Tatjana; Sacco, Ralph L; Sanchez, Cesar; Sankaran, Vijay G; Santos-Lobato, Bruno Lopes; Schumacher-Schuh, Artur Francisco; Scliar, Marilia O; Silverman, Edwin K; Sofer, Tamar; Lasky-Su, Jessica; Tumas, Vitor; Weiss, Scott T; Mata, Ignacio F; Hernandez, Ryan D; Tarazona-Santos, Eduardo; O'Connor, Timothy D

The genetic determinants of recurrent somatic mutations in 43,693 blood genomes

43693个血液基因组中复发性体细胞突变的遗传决定因素

Weinstock, Joshua S; Laurie, Cecelia A; Broome, Jai G; Taylor, Kent D; Guo, Xiuqing; Shuldiner, Alan R; O'Connell, Jeffrey R; Lewis, Joshua P; Boerwinkle, Eric; Barnes, Kathleen C; Chami, Nathalie; Kenny, Eimear E; Loos, Ruth J F; Fornage, Myriam; Redline, Susan; Cade, Brian E; Gilliland, Frank D; Chen, Zhanghua; Gauderman, W James; Kumar, Rajesh; Grammer, Leslie; Schleimer, Robert P; Psaty, Bruce M; Bis, Joshua C; Brody, Jennifer A; Silverman, Edwin K; Yun, Jeong H; Qiao, Dandi; Weiss, Scott T; Lasky-Su, Jessica; DeMeo, Dawn L; Palmer, Nicholette D; Freedman, Barry I; Bowden, Donald W; Cho, Michael H; Vasan, Ramachandran S; Johnson, Andrew D; Yanek, Lisa R; Becker, Lewis C; Kardia, Sharon; He, Jiang; Kaplan, Robert; Heckbert, Susan R; Smith, Nicholas L; Wiggins, Kerri L; Arnett, Donna K; Irvin, Marguerite R; Tiwari, Hemant; Correa, Adolfo; Raffield, Laura M; Gao, Yan; de Andrade, Mariza; Rotter, Jerome I; Rich, Stephen S; Manichaikul, Ani W; Konkle, Barbara A; Johnsen, Jill M; Wheeler, Marsha M; Custer, Brian S; Duggirala, Ravindranath; Curran, Joanne E; Blangero, John; Gui, Hongsheng; Xiao, Shujie; Williams, L Keoki; Meyers, Deborah A; Li, Xingnan; Ortega, Victor; McGarvey, Stephen; Gu, C Charles; Chen, Yii-Der Ida; Lee, Wen-Jane; Shoemaker, M Benjamin; Darbar, Dawood; Roden, Dan; Albert, Christine; Kooperberg, Charles; Desai, Pinkal; Blackwell, Thomas W; Abecasis, Goncalo R; Smith, Albert V; Kang, Hyun M; Mathias, Rasika; Natarajan, Pradeep; Jaiswal, Siddhartha; Reiner, Alexander P; Bick, Alexander G

Macrophage Galactose Lectin Contributes to the Regulation of FVIII (Factor VIII) Clearance in Mice-Brief Report

巨噬细胞半乳糖凝集素参与小鼠体内FVIII(因子VIII)清除的调节——简报

Ward, Soracha E; Guest, Thomas; Byrne, Ciara; Lopes, Patricia; O'Sullivan, Jamie M; Doherty, Dearbhla; O'Connell, David; Gutierrez Llaneza, Sara; Chion, Alain; Fazavana, Judicael; Fallon, Padraic G; Preston, Roger J S; Johnsen, Jill M; Pipe, Steven W; Turecek, Peter L; O'Donnell, James S

Identification of genomic loci regulating platelet plasminogen activator inhibitor-1 in mice

小鼠血小板纤溶酶原激活物抑制剂-1调控基因组位点的鉴定

Siebert, Amy E; Brake, Marisa A; Verbeek, Stephanie C; Johnston, Alexander J; Morgan, Andrew P; Cleuren, Audrey C; Jurek, Adrianna M; Schneider, Caitlin D; Germain, Derrik M; Battistuzzi, Fabia U; Zhu, Guojing; Miller, Darla R; Johnsen, Jill M; Pardo-Manuel de Villena, Fernando; Rondina, Matthew T; Westrick, Randal J