Detalhe da pesquisa
1.
Two rare variants that affect the same amino acid in CFTR have distinct responses to ivacaftor.
J Physiol
; 602(2): 333-354, 2024 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-38186087
2.
GM1 gangliosidosis type II: Results of a 10-year prospective study.
Genet Med
; 26(7): 101144, 2024 Apr 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38641994
3.
A test of automated use of electronic health records to aid in diagnosis of genetic disease.
Genet Med
; 25(12): 100966, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37622442
4.
Glb1 knockout mouse model shares natural history with type II GM1 gangliosidosis patients.
Mol Genet Metab
; 138(2): 107508, 2023 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-36709532
5.
Gene expression changes in Tay-Sachs disease begin early in fetal brain development.
J Inherit Metab Dis
; 46(4): 687-694, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36700853
6.
PUS7 deficiency in human patients causes profound neurodevelopmental phenotype by dysregulating protein translation.
Mol Genet Metab
; 135(3): 221-229, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35144859
7.
A promoter variant in the OTC gene associated with late and variable age of onset hyperammonemia.
J Inherit Metab Dis
; 45(4): 710-718, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35605046
8.
Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.
Am J Hum Genet
; 102(6): 1062-1077, 2018 06 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29805046
9.
Capitalizing on the heterogeneous effects of CFTR nonsense and frameshift variants to inform therapeutic strategy for cystic fibrosis.
PLoS Genet
; 14(11): e1007723, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30444886
10.
Correlating Cystic Fibrosis Transmembrane Conductance Regulator Function with Clinical Features to Inform Precision Treatment of Cystic Fibrosis.
Am J Respir Crit Care Med
; 199(9): 1116-1126, 2019 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-30888834
11.
Loss of carbonic anhydrase XII function in individuals with elevated sweat chloride concentration and pulmonary airway disease.
Hum Mol Genet
; 25(10): 1923-1933, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911677
12.
GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.
medRxiv
; 2024 Jan 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-38313286
13.
Residual function of cystic fibrosis mutants predicts response to small molecule CFTR modulators.
JCI Insight
; 3(14)2018 07 26.
Artigo
em Inglês
| MEDLINE | ID: mdl-30046002
14.
Transformative therapies for rare CFTR missense alleles.
Curr Opin Pharmacol
; 34: 76-82, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-29032041
15.
Creation and characterization of an airway epithelial cell line for stable expression of CFTR variants.
J Cyst Fibros
; 15(3): 285-94, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26694805