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

Diseases Common in Persons With Cystic Fibrosis Among CFTR Heterozygotes

囊性纤维化患者中常见的疾病(CFTR杂合子)

Zeng, Chenjie; Han, Sangwoo T; Cassini, Thomas A; Raraigh, Karen S; Tran, Tam C; Yang, James; Cutting, Garry R; Denny, Joshua C

GM1 gangliosidosis type II: Results of a 10-year prospective study

GM1神经节苷脂沉积症II型:一项为期10年的前瞻性研究结果

D'Souza, Precilla; Farmer, Cristan; Johnston, Jean M; Han, Sangwoo T; Adams, David; Hartman, Adam L; Zein, Wadih; Huryn, Laryssa A; Solomon, Beth; King, Kelly; Jordan, Christopher P; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E; Mojica Algarin, Yoliann; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Debra S; Brooks, Brian P; Acosta, Maria T; Baker, Eva H; Vézina, Gilbert; Thurm, Audrey; Tifft, Cynthia J

Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.

影响 CFTR 中同一氨基酸的两种罕见变异对伊伐卡托的反应不同

Li Hongyu, Rodrat Mayuree, Al-Salmani Majid K, Veselu Diana-Florentina, Han Sangwoo T, Raraigh Karen S, Cutting Garry R, Sheppard David N

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

GM1神经节苷脂沉积症II型:一项为期10年的前瞻性研究结果

D'Souza, Precilla; Farmer, Cristan; Johnston, Jean; Han, Sangwoo T; Adams, David; Hartman, Adam L; Zein, Wadih; Huryn, Laryssa A; Solomon, Beth; King, Kelly; Jordan, Christopher; Myles, Jennifer; Nicoli, Elena-Raluca; Rothermel, Caroline E; Algarin, Yoliann Mojica; Huang, Reyna; Quimby, Rachel; Zainab, Mosufa; Bowden, Sarah; Crowell, Anna; Buckley, Ashura; Brewer, Carmen; Regier, Deborah; Brooks, Brian; Baker, Eva; Vézina, Gilbert; Thurm, Audrey; Tifft, Cynthia J

A test of automated use of electronic health records to aid in diagnosis of genetic disease

一项利用电子健康记录自动化辅助诊断遗传疾病的测试

Cassini, Thomas; Bastarache, Lisa; Zeng, Chenjie; Han, Sangwoo T; Wang, Janey; He, Jing; Denny, Joshua C

Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients

Glb1基因敲除小鼠模型与II型GM1神经节苷脂病患者具有相似的自然病程

Nicoli, Elena-Raluca; Huebecker, Mylene; Han, Sangwoo T; Garcia, Karolyn; Munasinghe, Jeeva; Lizak, Martin; Latour, Yvonne; Yoon, Robin; Glase, Brianna; Tyrlik, Michal; Peiravi, Morteza; Springer, Danielle; Baker, Eva H; Priestman, David; Sidhu, Rohini; Kell, Pamela; Jiang, Xuntian; Kolstad, Josephine; Kuhn, Anna Luisa; Shazeeb, Mohammed Salman; Acosta, Maria T; Proia, Richard L; Platt, Frances M; Tifft, Cynthia J

Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis

将囊性纤维化跨膜电导调节因子功能与临床特征相关联,以指导囊性纤维化的精准治疗

McCague, Allison F; Raraigh, Karen S; Pellicore, Matthew J; Davis-Marcisak, Emily F; Evans, Taylor A; Han, Sangwoo T; Lu, Zhongzhou; Joynt, Anya T; Sharma, Neeraj; Castellani, Carlo; Collaco, Joseph M; Corey, Mary; Lewis, Michelle H; Penland, Chris M; Rommens, Johanna M; Stephenson, Anne L; Sosnay, Patrick R; Cutting, Garry R