| Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators ST Han, A Rab, MJ Pellicore, EF Davis, AF McCague, TA Evans, AT Joynt, ... JCI insight 3 (14), 2018 | 96 | 2018 |
| Correlating cystic fibrosis transmembrane conductance regulator function with clinical features to inform precision treatment of cystic fibrosis AF McCague, KS Raraigh, MJ Pellicore, EF Davis-Marcisak, TA Evans, ... American journal of respiratory and critical care medicine 199 (9), 1116-1126, 2019 | 82 | 2019 |
| Phenotypic Variation in FAM83H-associated Amelogenesis Imperfecta JT Wright, S Frazier-Bowers, D Simmons, K Alexander, P Crawford, ... Journal of dental research 88 (4), 356-360, 2009 | 82 | 2009 |
| Functional assays are essential for interpretation of missense variants associated with variable expressivity KS Raraigh, ST Han, E Davis, TA Evans, MJ Pellicore, AF McCague, ... The American Journal of Human Genetics 102 (6), 1062-1077, 2018 | 80 | 2018 |
| Identification of 2 novel ANTXR2 mutations in patients with hyaline fibromatosis syndrome and proposal of a modified grading system R Denadai, CE Raposo‐Amaral, D Bertola, C Kim, N Alonso, T Hart, ... American journal of medical genetics Part A 158 (4), 732-742, 2012 | 77 | 2012 |
| Novel FAM83H mutations in Turkish families with autosomal dominant hypocalcified amelogenesis imperfecta PS Hart, S Becerik, D Cogulu, G Emingil, D Ozdemir-Ozenen, ST Han, ... Clinical genetics 75 (4), 401, 2009 | 58 | 2009 |
| Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis N Sharma, TA Evans, MJ Pellicore, E Davis, MA Aksit, AF McCague, ... PLoS genetics 14 (11), e1007723, 2018 | 55 | 2018 |
| Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants LB Gottschalk, B Vecchio-Pagan, N Sharma, ST Han, A Franca, ... Journal of Cystic Fibrosis 15 (3), 285-294, 2016 | 41 | 2016 |
| Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease M Lee, B Vecchio-Pagán, N Sharma, A Waheed, X Li, KS Raraigh, ... Human molecular genetics 25 (10), 1923-1933, 2016 | 40 | 2016 |
| Transformative therapies for rare CFTR missense alleles KE Oliver, ST Han, EJ Sorscher, GR Cutting Current opinion in pharmacology 34, 76-82, 2017 | 26 | 2017 |
| Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering TC Markello, T Han, H Carlson-Donohoe, C Ahaghotu, U Harper, ... Molecular genetics and metabolism 105 (3), 382-389, 2012 | 23 | 2012 |
| Exclusion of candidate genes in seven Turkish families with autosomal recessive amelogenesis imperfecta S Becerik, D Cogulu, G Emingil, T Han, PS Hart, TC Hart American Journal of Medical Genetics Part A 149 (7), 1392-1398, 2009 | 23 | 2009 |
| PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation ST Han, AC Kim, K Garcia, LA Schimmenti, E Macnamara, UD Network, ... Molecular genetics and metabolism 135 (3), 221-229, 2022 | 6 | 2022 |
| Cystic Fibrosis: A Multi-Organ System Approach SD Davis, M Rosenfeld, J Chmiel Springer Nature, 2020 | 5 | 2020 |
| A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia ST Han, KJ Anderson, HT Bjornsson, N Longo, D Valle Journal of inherited metabolic disease 45 (4), 710-718, 2022 | 4 | 2022 |
| A test of automated use of electronic health records to aid in diagnosis of genetic disease T Cassini, L Bastarache, C Zeng, ST Han, J Wang, J He, JC Denny Genetics in Medicine 25 (12), 100966, 2023 | 2 | 2023 |
| Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients ER Nicoli, M Huebecker, ST Han, K Garcia, J Munasinghe, M Lizak, ... Molecular genetics and metabolism 138 (2), 107508, 2023 | 2 | 2023 |
| Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor H Li, M Rodrat, MK Al‐Salmani, DF Veselu, ST Han, KS Raraigh, ... The Journal of Physiology 602 (2), 333-354, 2024 | 1 | 2024 |
| Gene expression changes in Tay–Sachs disease begin early in fetal brain development ST Han, A Hirt, ER Nicoli, M Kono, C Toro, RL Proia, CJ Tifft Journal of Inherited Metabolic Disease 46 (4), 687-694, 2023 | 1 | 2023 |
| GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study P D’Souza, C Farmer, JM Johnston, ST Han, D Adams, AL Hartman, ... Genetics in Medicine, 101144, 2024 | | 2024 |
Karen RaraighGenetic counselor, Johns Hopkins UniversityVerified email at jhmi.edu
