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

A novel spliceosomopathy caused by de novo SF3B3 variants.

一种由新生SF3B3变异引起的新型剪接体病。

Musante Luciana, Janos Pavel, Pianigiani Giulia, Cappelli Sara, Longo Alessandra, Alves Carolina, Schwaibold Eva Mc, Wagner Matias, Costain Gregory, Fridriksdottir Run, Stefansson Kari, Sulem Patrick, Lichtenbelt Klaske D, van Binsbergen Ellen, van Jaarsveld Richard H, Brusco Alfredo, Pavinato Lisa, Biamino Elisa, Spano Alessandra, Hildebrandt Clara C, Chan Yee-Ming, Groopman Emily, Berkenstadt Michal, Koboldt Daniel, Williamson Rachel, Brunner Han G, Vissers Lisenka Elm, Torring Pernille M, Hao Qin, Gelb Bruce D, Goldmuntz Elizabeth, Reed Kristen, Bedoukian Emma C, Vecchio Davide, Salzano Emanuela, Piccione Maria, Zanus Caterina, Mio Catia, Eichler Evan E, Wang Tianyun, Patterson Wesley G, Butler Kameryn M, Piotrowski Mattie, Mercier Sandra, Cogné Benjamin, Wentzensen Ingrid M, Buratti Emanuele, Magistrato Alessandra, Faletra Flavio

Operationalizing the Wilson-Jungner principles for the genomics era: Consensus recommendations from the International Consortium on Newborn Sequencing

将威尔逊-荣格纳原则应用于基因组学时代:国际新生儿测序联盟的共识建议

Downie, Lilian; Yeo, Julie; Minten, Thomas; Heald, Rose; Ansel, Derek; Baker, Mei; Balciuniene, Jorune; Berg, Jonathan S; Boemer, François; Chung, Wendy K; Cope, Heidi L; Eckstein, David J; Encina, Nicolas; Faivre, Laurence; Ferlini, Alessandra; García-Villoria, Judit; Gelb, Michael H; González De Aledo-Castillo, José Manuel; Golden-Grant, Katie; Parad, Richard B; Shah, Nidhi; Stark, Zornitza; Sund, Kristen L; Tsipouras, Petros; To, Meekai; Bick, David; Green, Robert C; Gold, Nina B

Cancer risk in adults with pathogenic germline variants in RAS/MAPK genes using genomic ascertainment

利用基因组检测方法评估携带 RAS/MAPK 基因致病性种系变异的成年人的癌症风险

Kim, Jung; Ney, Gina; Frone, Megan N; Haley, Jeremy S; Ramos, Mark L; Mirshahi, Uyenlinh L; Astiazaran-Symonds, Esteban; Shandrina, Mariya; Urban, Gretchen; Rao, H Shanker; Stahl, Rick; Golden, Alicia; Yohe, Marielle E; Gross, Andrea M; Ding, Yi; Carey, David J; Gelb, Bruce D; Stewart, Douglas R

Regional Variation in Early Kidney Transplant Access Across Dialysis Facilities in 4 US Regions

美国四个地区透析中心早期肾移植机会的区域差异

Buford, Jade; Di, Mengyu; Harding, Jessica L; Drewry, Kelsey; Kelty, Catherine; Wilk, Adam; Huml, Anne; Rossi, Ana P; Mohan, Sumit; Gelb, Bruce E; Chopra, Bhavna; Glicklich, Daniel; Anand, Prince Mohan; Handmacher, Matthew; Mulloy, Laura; Dar, Wasim A; Reeves-Daniel, Amber; Akalin, Enver; McPartland, Kenneth J; Pastan, Stephen O; Patzer, Rachel E

ROBO2 Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element

与房间隔缺损相关的ROBO2变异定义了一种新的调控元件

Kim, Seong Won; Parfenov, Michael; Rodriguez-Murillo, Laura; Conner, David A; Sharma, Arun; Peter, Inga; Xiao, Feng; Layton, Olivia; Tai, Angela; Ward, Tarsha; Wasson, Lauren K; Gorham, Joshua M; Mazaika, Erica; Lagomarsino, Valentina N; Young-Pearse, Tracy L; Goldmuntz, Elizabeth; Wakimoto, Hiroko; Agopian, A J; McKean, David M; DePalma, Steven R; Pu, William T; Seidman, Christine E; Gelb, Bruce D; Seidman, Jonathan G

Prothrombin G20210A and Factor V Leiden Variants Are Not Associated With Thrombotic Events in Congenital Heart Disease: An Observational Trial

凝血酶原 G20210A 和 V 因子 Leiden 变异与先天性心脏病血栓事件无关:一项观察性试验

Ladha, Feria A; VanderPluym, Christina; Mondragon-Estrada, Enrique; Avillach, Paul; Brueckner, Martina; Chung, Wendy K; Cnota, James F; Gelb, Bruce D; Lewis, Matthew; Liu, Cong; Roberts, Amy E; Seidman, Christine E; Tristani-Firouzi, Martin; Wagner, Michael; Morton, Sarah U; Newburger, Jane W

Sphingolipid-neutralizing molecular therapy reduces psychosine cytotoxicity in Krabbe disease

鞘脂中和分子疗法可降低克拉伯病中精神苷脂的细胞毒性

Begum, Salma; Hsueh, Shin-Chang; Cheria, Ezra M Y; Espejo, Jayar; Zhang, Ping; Collin, Armand; Kappauf, Edgar; Mardenli, Murielle; Gelb, Michael H; Ling, Chang-Chun; Maegawa, Gustavo H B

Supporting General Practitioners to Deprescribe Benzodiazepines and Z-Drugs in Primary Care: Findings From a Modified Delphi Study

支持全科医生在初级保健中停止处方苯二氮卓类药物和Z类药物:一项改良德尔菲研究的发现

Oldenhof, Erin; Pisegna, Megan; Horowitz, Mark; Wilson, Hester; Gelb, Karen; Trumble, Stephen; Andronis, Catherine; Tracy, Marguerite; Zwar, Nicholas A; Mau, Andrew; Chapman, Anna; Staiger, Petra K

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

线粒体疾病诊断延迟的驱动因素:未能识别典型特征

Tinker, Rory J; Jacob, Neil; Syed, Mohammad Ghouse; Kelkar, Janhawi; Donnelly, Colleen; Elsharkawi, Ibrahim; Ganesh, Jaya; Gelb, Bruce D; Pejaver, Vikas; Kozicz, Tamas; Morava, Eva

Feeder-Free Generation of Lymphatic Endothelial Cells from Human Induced Pluripotent Stem Cells

利用人诱导多能干细胞在无饲养层条件下生成淋巴内皮细胞

Prasad, Aditi; Patel, Shrey; Ng, Simon; Liu, Clifford Z; Gelb, Bruce D