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

PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance

PTPN1相关的自身炎症是低外显率Aicardi-Goutières综合征的常见病因

Calame, Daniel G; Wiener, Emma K; Gavazzi, Francesco; Sevagamoorthy, Anjana; Pizzino, Amy; Arnold, Kaley; Dominguez Gonzalez, Carlos; Jammihal, Tejas; Bennett, Mariko; Adang, Laura; Woidill, Sarah; Whitehead, Matthew T; Vossough, Arastoo; D'Aiello, Russell; Takanohashi, Asako; Lele, Janhavi; Simons, Cas; Rius, Rocio; Formaini, Edward; Sullivan, Kathleen E; Andzelm, Milena; Ebrahimi-Fakhari, Darius; Otten, Catherine; Wong, Stephen; Reynolds, Thomas; Schiffmann, Raphael; Wolf, Nicole I; Waisfisz, Quinten; Niermeijer, Jikke-Mien; DeMarzo, Danielle; Dawood, Moez; Gandhi, Mira; Levine, Jesse M; Chinn, Ivan K; Fisher, Kristen; Emrick, Lisa; Alam, Chadi Al; Kaiyrzhanov, Rauan; Maroofian, Reza; Houlden, Henry; Jhangiani, Shalini N; Mehta, Heer H; Muzny, Donna M; Sedlazeck, Fritz J; Posey, Jennifer E; Lupski, James R; Gibbs, Richard A; Rajagopalan, Ramakrishnan; Vanderver, Adeline

Scalable and comprehensive mosaic variant calling using DRAGEN

使用 DRAGEN 进行可扩展且全面的嵌合变异检测

Behera, Sairam; Rossi, Massimiliano; Wang, Yina; Izydorczyk, Michal B; Tran, Duke; Dalgard, Clifton L; Kalef-Ezra, Ester; Kottapalli, Kavya; Mehta, Heer; Parnaby, Gavin; Risse-Adams, Oona Shigeno; Scholz, Sonja W; Shen, Helen; Nelson, Theodore M; Visvanath, Arun; Zheng, Xinchang; Doddapaneni, Harsha; Garcia, Thomas; Mason, Christopher E; Proukakis, Christos; Han, James; Mehio, Rami; Catreux, Severine; Sedlazeck, Fritz J

Kupffer cell diversity maintains liver function in alcohol-associated liver disease.

库普弗细胞多样性维持酒精性肝病中的肝功能

Sasaki Kyo, Rooge Sheetalnath, Gunewardena Sumedha, Hintz Janice Averilla, Ghosh Priyanka, Pulido Ruiz Isabel Aranzazu, Yuquimpo Kyle, Schonfeld Michael, Mehta Heer, Stevenson Heather L, Saldarriaga Omar A, Arroyave Esteban, Tikhanovich Irina, Wozniak Ann L, Weinman Steven A

Correction: Development and extensive sequencing of a broadly-consented Genome in a Bottle matched tumor-normal pair

更正:开发并广泛测序了经广泛认可的“瓶中基因组”匹配的肿瘤-正常样本对

McDaniel, Jennifer H; Patel, Vaidehi; Olson, Nathan D; He, Hua-Jun; He, Zhiyong; Cole, Kenneth D; Gooden, Alexander A; Schmitt, Anthony; Sikkink, Kristin; Sedlazeck, Fritz J; Doddapaneni, Harsha; Jhangiani, Shalini N; Muzny, Donna M; Gingras, Marie-Claude; Mehta, Heer; Behera, Sairam; Paulin, Luis F; Hastie, Alex R; Yu, Hung-Chun; Weigman, Victor; Rojas, Alison; Kennedy, Katie; Remington, Jamie; Salas-González, Isai; Sudkamp, Mitch; Wiseman, Kelly; Lajoie, Bryan R; Levy, Shawn; Jain, Miten; Akeson, Stuart; Narzisi, Giuseppe; Steinsnyder, Zoe; Reeves, Catherine; Shelton, Jennifer; Kingan, Sarah B; Lambert, Christine; Baybayan, Primo; Wenger, Aaron M; McLaughlin, Ian J; Adamson, Aaron; Kingsley, Christopher; Wescott, Melanie; Kim, Young; Paten, Benedict; Park, Jimin; Violich, Ivo; Miga, Karen H; Gardner, Joshua; McNulty, Brandy; Rosen, Gail L; McCoy, Rajiv; Brundu, Francesco; Sayyari, Erfan; Scheffler, Konrad; Truong, Sean; Catreux, Severine; Hannah, Lesley Chapman; Lipson, Doron; Benjamin, Hila; Iremadze, Nika; Soifer, Ilya; Krieger, Gat; Eacker, Stephen; Wood, Mary; Cross, Erin; Husar, Greg; Gross, Stephen; Vernich, Michael; Kolmogorov, Mikhail; Ahmad, Tanveer; Keskus, Ayse G; Bryant, Asher; Thibaud-Nissen, Francoise; Trow, Jonathan; Proszynski, Jacqueline; Hirschberg, Jeremy Wain; Ryon, Krista; Mason, Christopher E; Bhakta, Mital S; Sanborn, J Zachary; Munding, Elizabeth M; Wagner, Justin; Xiao, Chunlin; Liss, Andrew S; Zook, Justin M

Comparison Between Dynamic Models for Predicting Response to Corticosteroids in Alcohol-Associated Hepatitis: A Global Cohort Study

比较用于预测酒精相关性肝炎患者对皮质类固醇反应的动态模型:一项全球队列研究

Idalsoaga, Francisco; Díaz, Luis Antonio; Guizzetti, Leonardo; Dunn, Winston; Mehta, Heer; Arnold, Jorge; Ayares, Gustavo; Mortuza, Rokhsana; Mahli, Gurpreet; Islam, Alvi H; Sarin, Shiv K; Maiwall, Rakhi; Zhang, Wei; Qian, Steve; Simonetto, Douglas; Singal, Ashwani K; Elfeki, Mohamed A; Ramirez-Cadiz, Carolina; Cabezas, Joaquín; Echavarría, Victor; Cots, Meritxell Ventura; La Tijera, María Fátima Higuera-De; Abraldes, Juan G; Al-Karaghouli, Mustafa; Jalal, Prasun K; Ali Ibrahim, Mohamad; García-Tsao, Guadalupe; Goyes, Daniela; Skladaný, Lubomir; Havaj, Daniel J; Sulejova, Karolina; Selcanova, Svetlana Adamcova; Rincón, Diego; Shah, Vijay H; Kamath, Patrick S; Arrese, Marco; Bataller, Ramon; Arab, Juan Pablo

Single cell long read whole genome sequencing reveals somatic transposon activity in human brain

单细胞长读长全基因组测序揭示人脑体细胞转座子活性

Izydorczyk, Michal B; Kalef-Ezra, Ester; Horner, Dominic W; Zheng, Xinchang; Holmes, Nadine; Toffoli, Marco; Sahin, Zeliha; Han, Yi; Mehta, Heer H; Scholz, Sonja W; Dalgard, Clifton L; Muzny, Donna M; Ameur, Adam; Sedlazeck, Fritz J; Proukakis, Christos

Moderate alcohol-associated hepatitis: A real-world multicenter study

中度酒精相关性肝炎:一项真实世界多中心研究

Idalsoaga, Francisco; Díaz, Luis Antonio; Dunn, Winston; Mehta, Heer; Muñoz, Karen; Caldentey, Vicente; Arnold, Jorge; Ayares, Gustavo; Mortuza, Rokhsana; Sarin, Shiv K; Maiwall, Rakhi; Zhang, Wei; Qian, Steve; Simonetto, Douglas; Singal, Ashwani K; Elfeki, Mohamed A; Ramirez-Cadiz, Carolina; Malhi, Gurpreet; Ahmed, Adan; Homsi, Hoomam; Abid, Zinia; Cabezas, Joaquín; Echavarría, Victor; Poca, Maria; Soriano, German; Cuyas, Berta; Ventura Cots, Meritxell; Higuera-De La Tijera, María Fátima; Ayala-Valverde, Maria; Perez, Diego; Gomez, Jaime; Abraldes, Juan G; Al-Karaghouli, Mustafa; Jalal, Prasun K; Ibrahim, Mohamad Ali; García-Tsao, Guadalupe; Goyes, Daniela; Skladaný, Lubomir; Havaj, Daniel J; Sulejova, Karolina; Adamcova Selcanova, Svetlana; Rincón, Diego; Chacko, Kristina R; Restrepo, Juan C; Yaquich, Pamela; Toro, Luis G; Shah, Vijay; Arrese, Marco; Kamath, Patrick S; Bataller, Ramon; Arab, Juan Pablo

Pentoxifylline use in alcohol-associated hepatitis with acute kidney injury does not improve survival: a global study

一项全球研究表明,己酮可可碱用于治疗酒精性肝炎合并急性肾损伤并不能提高生存率。

Idalsoaga, Francisco; Diaz, Luis Antonio; Dunn, Winston; Mehta, Heer; Caldentey, Vicente; Arnold, Jorge; Ayares, Gustavo; Sarin, Shiv K; Maiwall, Rakhi; Zhang, Wei; Qian, Steve; Simonetto, Douglas; Singal, Ashwani K; Elfeki, Mohamed A; Khan, Mohammad Qasim; Mortuza, Rokhsana; Malhi, Gurpreet; Islam, Alvi Husni; Guizzetti, Leonardo; Ramirez-Cadiz, Carolina; Cabezas, Joaquín; Echavarria, Victor; Poca, Maria; Cuyas, Berta; Soriano, German; Ventura Cots, Meritxell; Higuera-De La Tijera, María Fátima; Abraldes, Juan G; Al-Karaghouli, Mustafa; Skladaný, Lubomir; Havaj, Daniel Jan; Rincón, Diego; Shah, Vijay; Arrese, Marco; Kamath, Patrick S; Bataller, Ramon; Arab, Juan Pablo

Population-scale Long-read Sequencing in the All of Us Research Program

“我们所有人”研究计划中的群体规模长读长测序

Garimella, Kiran V; Li, Qiuhui; Wertz, Julie; Lee, Samuel K; Cunial, Fabio; Huang, Yongqing; Mostovoy, Yulia; Lorig-Roach, Ryan; English, Adam; Su, Hang; Levy, Shawn; Muzny, Donna M; Berngruber, Chelsea; Danzi, Matt C; Harvey, William T; LaPlante, Emily L; Patterson, Karynne; Rozanski, Allison N; Schwartz, Sophie; Shifaw, Beri; Wang, Yuanyuan; Wong, Isaac; Xu, Isaac R L; Zaheri, Shadi; Zuchner, Stephan; Zheng, Xinchang; Dugan-Perez, Shannon; Izydorczyk, Michal; Mehta, Heer; Gibbs, Richard A; Lichtenstein, Lee; Gupta, Namrata; Lennon, Niall; Gabriel, Stacey; Timp, Winston; Doheny, Kimberly F; Dutka, Tara; Musick, Anjene; Wei, Chia-Lin; Sedlazeck, Fritz J; Schatz, Michael C; Talkowski, Michael E; Eichler, Evan E

Constellation illuminates rare disease genetics

星座揭示罕见病遗传学

Cheng, Siyuan; Zhang, Qing; Zheng, Xinchang; Jhangiani, Shalini; Weir, Jacqueline C; Farek, Jesse R; Mehta, Heer H; Khan, Ziad M; Han, Yi; Dinh, Huyen H; Blankenburg, Kerstin P; Posey, Jennifer E; Gibbs, Richard A; Muzny, Donna M; Carvalho, Claudia M B; Bekritsky, Mitchell A; Crawford, Ali; Calame, Daniel; Han, James; Sedlazeck, Fritz J