Sangwoo T. Han

Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators

Sangwoo T. Han, András Rab, Matthew J. Pellicore et al. · JCI Insight · 2018 · 104 citations · Full text

Medicine, Molecular Biology, Pharmacology +14

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

Allison F. McCague, Karen S. Raraigh, Matthew J. Pellicore et al. · American Journal of Respiratory and Critical Care Medicine · 2019 · 99 citations · Full text

Medicine, Molecular Medicine, Pharmacology +17

Identification of 2 novel <i>ANTXR2</i> mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system

Rafael Denadai, CassioEduardo Raposo-Amaral, CassioEduardo Raposo-Amaral et al. · American Journal of Medical Genetics Part A · 2012 · 96 citations

Medicine, Dermatology, Pathology +13

Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity

Karen S. Raraigh, Sangwoo T. Han, Emily F. Davis-Marcisak et al. · The American Journal of Human Genetics · 2018 · 94 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Phenotypic Variation in <i>FAM83H-</i> associated Amelogenesis Imperfecta

J. Timothy Wright, Sylvia A. Frazier‐Bowers, Darrin Simmons et al. · Journal of Dental Research · 2009 · 73 citations · Full text

Dentistry, Genetics, Oral Biology +14