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

Novel Method for Predicting Lp(a) From Genomic Testing Identifies ASCVD Risk Across a Diverse Cohort

一种基于基因组检测预测Lp(a)的新方法可识别不同人群的ASCVD风险

Telis, Natalie; Dai, Hang; Waring, Ashley; Kann, David; Wyman, Dana; White, Simon; Khuder, Basil; Tanudjaja, Francisco; Bolze, Alexandre; Levy, Matthew E; Hajek, Cassie; McEwen, Lisa M; Stoller, Douglas; Chapman, Christopher N; Chahal, C Anwar A; Judge, Daniel P; Olson, Douglas A; Grzymski, Joseph J; Washington, Nicole L; Lee, William; Cirulli, Elizabeth T; Luo, Shishi; Schiabor Barrett, Kelly

Population Genomic Screening and Improved Lipid Management in Patients With Familial Hypercholesterolemia

群体基因组筛查和改善家族性高胆固醇血症患者的血脂管理

Levy, Matthew E; Schiabor Barrett, Kelly M; Betts, Megan N; Kann, David; Bolze, Alexandre; Khuder, Basil; Telis, Natalie; McEwen, Lisa M; Sturm, Amy C; Haldeman-Englert, Chad; Cauwels, Jeremy; Stoller, Douglas; Chahal, C Anwar A; Chapman, Christopher N; Waring, Ashley A; Olson, Douglas A; Grzymski, Joseph J; Washington, Nicole L; Lee, William; Cirulli, Elizabeth T; Hajek, Catherine

Hypertension increases PPV for polycystic kidney disease in PKD1 and PKD2 variant carriers

高血压会增加PKD1和PKD2变异携带者患多囊肾病的阳性预测值。

Telis, Natalie; McEwen, Lisa; Bolze, Alexandre; Lipschutz, Joshua H; Sweer, Leon W; Judge, Daniel P; Pawloski, Pamala A; Grzymski, Joseph J; Hajek, Catherine; Schiabor Barrett, Kelly M; Washington, Nicole L; Cirulli, Elizabeth T

A power-based sliding window approach to evaluate the clinical impact of rare genetic variants in the nucleotide sequence or the spatial position of the folded protein

一种基于幂函数的滑动窗口方法,用于评估核苷酸序列或折叠蛋白空间位置中罕见基因变异的临床影响。

Cirulli, Elizabeth T; Schiabor Barrett, Kelly M; Bolze, Alexandre; Judge, Daniel P; Pawloski, Pamala A; Grzymski, Joseph J; Lee, William; Washington, Nicole L

Combining rare and common genetic variants improves population risk stratification for breast cancer

结合罕见和常见基因变异可以改善乳腺癌人群风险分层。

Bolze, Alexandre; Kiser, Daniel; Schiabor Barrett, Kelly M; Elhanan, Gai; Schnell Blitstein, Jamie M; Neveux, Iva; Dabe, Shaun; Reed, Harry; Anderson, Alexa; Metcalf, William J; Orlova, Ekaterina; Thibodeau, Ildiko; Telis, Natalie; Jiang, Ruomu; Washington, Nicole L; Ferber, Matthew J; Hajek, Catherine; Cirulli, Elizabeth T; Grzymski, Joseph J

Lack of association between HLA and asymptomatic SARS-CoV-2 infection

HLA与无症状SARS-CoV-2感染之间缺乏关联

Marchal, Astrid; Cirulli, Elizabeth T; Neveux, Iva; Bellos, Evangelos; Thwaites, Ryan S; Schiabor Barrett, Kelly M; Zhang, Yu; Nemes-Bokun, Ivana; Kalinova, Mariya; Catchpole, Andrew; Tangye, Stuart G; Spaan, András N; Lack, Justin B; Ghosn, Jade; Burdet, Charles; Gorochov, Guy; Tubach, Florence; Hausfater, Pierre; Dalgard, Clifton L; Zhang, Shen-Ying; Zhang, Qian; Chiu, Christopher; Fellay, Jacques; Grzymski, Joseph J; Sancho-Shimizu, Vanessa; Abel, Laurent; Casanova, Jean-Laurent; Cobat, Aurélie; Bolze, Alexandre

SARS-CoV-2 variant Delta rapidly displaced variant Alpha in the United States and led to higher viral loads

SARS-CoV-2 变体 Delta 在美国迅速取代变体 Alpha,并导致病毒载量增加

Alexandre Bolze, Shishi Luo, Simon White, Elizabeth T Cirulli, Dana Wyman, Andrew Dei Rossi, Henrique Machado, Tyler Cassens, Sharoni Jacobs, Kelly M Schiabor Barrett, Francisco Tanudjaja, Kevin Tsan, Jason Nguyen, Jimmy M Ramirez 3rd, Efren Sandoval, Xueqing Wang, David Wong, David Becker, Marc Lau

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

一项旨在识别影响 COVID-19 预后的罕见变异的全外显子组关联研究:来自宿主遗传学计划的结果

Butler-Laporte, Guillaume; Povysil, Gundula; Kosmicki, Jack A; Cirulli, Elizabeth T; Drivas, Theodore; Furini, Simone; Saad, Chadi; Schmidt, Axel; Olszewski, Pawel; Korotko, Urszula; Quinodoz, Mathieu; Çelik, Elifnaz; Kundu, Kousik; Walter, Klaudia; Jung, Junghyun; Stockwell, Amy D; Sloofman, Laura G; Jordan, Daniel M; Thompson, Ryan C; Del Valle, Diane; Simons, Nicole; Cheng, Esther; Sebra, Robert; Schadt, Eric E; Kim-Schulze, Seunghee; Gnjatic, Sacha; Merad, Miriam; Buxbaum, Joseph D; Beckmann, Noam D; Charney, Alexander W; Przychodzen, Bartlomiej; Chang, Timothy; Pottinger, Tess D; Shang, Ning; Brand, Fabian; Fava, Francesca; Mari, Francesca; Chwialkowska, Karolina; Niemira, Magdalena; Pula, Szymon; Baillie, J Kenneth; Stuckey, Alex; Salas, Antonio; Bello, Xabier; Pardo-Seco, Jacobo; Gómez-Carballa, Alberto; Rivero-Calle, Irene; Martinón-Torres, Federico; Ganna, Andrea; Karczewski, Konrad J; Veerapen, Kumar; Bourgey, Mathieu; Bourque, Guillaume; Eveleigh, Robert Jm; Forgetta, Vincenzo; Morrison, David; Langlais, David; Lathrop, Mark; Mooser, Vincent; Nakanishi, Tomoko; Frithiof, Robert; Hultström, Michael; Lipcsey, Miklos; Marincevic-Zuniga, Yanara; Nordlund, Jessica; Schiabor Barrett, Kelly M; Lee, William; Bolze, Alexandre; White, Simon; Riffle, Stephen; Tanudjaja, Francisco; Sandoval, Efren; Neveux, Iva; Dabe, Shaun; Casadei, Nicolas; Motameny, Susanne; Alaamery, Manal; Massadeh, Salam; Aljawini, Nora; Almutairi, Mansour S; Arabi, Yaseen M; Alqahtani, Saleh A; Al Harthi, Fawz S; Almutairi, Amal; Alqubaishi, Fatima; Alotaibi, Sarah; Binowayn, Albandari; Alsolm, Ebtehal A; El Bardisy, Hadeel; Fawzy, Mohammad; Cai, Fang; Soranzo, Nicole; Butterworth, Adam; Geschwind, Daniel H; Arteaga, Stephanie; Stephens, Alexis; Butte, Manish J; Boutros, Paul C; Yamaguchi, Takafumi N; Tao, Shu; Eng, Stefan; Sanders, Timothy; Tung, Paul J; Broudy, Michael E; Pan, Yu; Gonzalez, Alfredo; Chavan, Nikhil; Johnson, Ruth; Pasaniuc, Bogdan; Yaspan, Brian; Smieszek, Sandra; Rivolta, Carlo; Bibert, Stephanie; Bochud, Pierre-Yves; Dabrowski, Maciej; Zawadzki, Pawel; Sypniewski, Mateusz; Kaja, Elżbieta; Chariyavilaskul, Pajaree; Nilaratanakul, Voraphoj; Hirankarn, Nattiya; Shotelersuk, Vorasuk; Pongpanich, Monnat; Phokaew, Chureerat; Chetruengchai, Wanna; Tokunaga, Katsushi; Sugiyama, Masaya; Kawai, Yosuke; Hasegawa, Takanori; Naito, Tatsuhiko; Namkoong, Ho; Edahiro, Ryuya; Kimura, Akinori; Ogawa, Seishi; Kanai, Takanori; Fukunaga, Koichi; Okada, Yukinori; Imoto, Seiya; Miyano, Satoru; Mangul, Serghei; Abedalthagafi, Malak S; Zeberg, Hugo; Grzymski, Joseph J; Washington, Nicole L; Ossowski, Stephan; Ludwig, Kerstin U; Schulte, Eva C; Riess, Olaf; Moniuszko, Marcin; Kwasniewski, Miroslaw; Mbarek, Hamdi; Ismail, Said I; Verma, Anurag; Goldstein, David B; Kiryluk, Krzysztof; Renieri, Alessandra; Ferreira, Manuel A R; Richards, J Brent

Clinical validation of genomic functional screen data: Analysis of observed BRCA1 variants in an unselected population cohort

基因组功能筛查数据的临床验证:对未经选择的人群队列中观察到的BRCA1变异进行分析

Schiabor Barrett, Kelly M; Masnick, Max; Hatchell, Kathryn E; Savatt, Juliann M; Banet, Natalie; Buchanan, Adam; Willard, Huntington F

HLA-A∗03:01 is associated with increased risk of fever, chills, and stronger side effects from Pfizer-BioNTech COVID-19 vaccination

HLA-A∗03:01 与辉瑞-BioNTech COVID-19 疫苗接种后出现发热、寒战和更严重副作用的风险增加相关。

Bolze, Alexandre; Neveux, Iva; Schiabor Barrett, Kelly M; White, Simon; Isaksson, Magnus; Dabe, Shaun; Lee, William; Grzymski, Joseph J; Washington, Nicole L; Cirulli, Elizabeth T