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Human Molecular Genetics|February 26, 2016
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway diseaseMelissa Lee, Briana Vecchio-Pagán, Neeraj Sharma, et al.
American Journal of Respiratory and Critical Care Medicine|March 20, 2019
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic FibrosisAllison F McCague, Karen S Raraigh, Matthew J Pellicore, et al.
Plos Genetics|November 17, 2018
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosisNeeraj Sharma, Taylor A Evans, Matthew J Pellicore, et al.
Molecular Genetics and Metabolism|January 29, 2023
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patientsElena-Raluca Nicoli, Mylene Huebecker, Sangwoo T Han, et al.
Medrxiv : the Preprint Server for Health Sciences|February 5, 2024
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective StudyPrecilla D'Souza, Cristan Farmer, Jean Johnston, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|April 20, 2024
GM1 gangliosidosis type II: Results of a 10-year prospective studyPrecilla D'Souza, Cristan Farmer, Jean M Johnston, et al.
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