Showing results (1-10 of 16) with videos related to

Sort By:
Pageof 2
Current Opinion in Pharmacology|October 17, 2017
Transformative therapies for rare CFTR missense allelesKathryn E Oliver, Sangwoo T Han, Eric J Sorscher, et al.
Journal of Inherited Metabolic Disease|May 23, 2022
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemiaSangwoo T Han, Katherine J Anderson, Hans T Bjornsson, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 25, 2023
A test of automated use of electronic health records to aid in diagnosis of genetic diseaseThomas Cassini, Lisa Bastarache, Chenjie Zeng, et al.
Journal of Inherited Metabolic Disease|January 26, 2023
Gene expression changes in Tay-Sachs disease begin early in fetal brain developmentSangwoo T Han, Ashley Hirt, Elena-Raluca Nicoli, et al.
JAMA Internal Medicine|June 16, 2025
Diseases Common in Persons With Cystic Fibrosis Among CFTR HeterozygotesChenjie Zeng, Sangwoo T Han, Thomas A Cassini, et al.
The Journal of Physiology|January 8, 2024
Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftorHongyu Li, Mayuree Rodrat, Majid K Al-Salmani, et al.
Molecular Genetics and Metabolism|February 11, 2022
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translationSangwoo T Han, Andrew C Kim, Karolyn Garcia, et al.
Journal of Cystic Fibrosis : Official Journal of the European Cystic Fibrosis Society|December 24, 2015
Creation and characterization of an airway epithelial cell line for stable expression of CFTR variantsLaura B Gottschalk, Briana Vecchio-Pagan, Neeraj Sharma, et al.
American Journal of Human Genetics|May 29, 2018
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable ExpressivityKaren S Raraigh, Sangwoo T Han, Emily Davis, et al.
JCI Insight|July 27, 2018
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulatorsSangwoo T Han, Andras Rab, Matthew J Pellicore, et al.
Pageof 2