Detalhe da pesquisa
1.
Human MCTS1-dependent translation of JAK2 is essential for IFN-γ immunity to mycobacteria.
Cell;
186(23): 5114-5134.e27, 2023 11 09.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37875108
2.
Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.
Cell;
172(5): 952-965.e18, 2018 02 22.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29474921
3.
Human genetic and immunological determinants of critical COVID-19 pneumonia.
Nature;
603(7902): 587-598, 2022 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35090163
4.
Human autoantibodies neutralizing type I IFNs: From 1981 to 2023.
Immunol Rev;
322(1): 98-112, 2024 Mar.
Artigo
em Inglês
| MEDLINE
| ID: mdl-38193358
5.
Genome-wide detection of human intronic AG-gain variants located between splicing branchpoints and canonical splice acceptor sites.
Proc Natl Acad Sci U S A;
120(46): e2314225120, 2023 Nov 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37931111
6.
Allele-dependent interaction of LRRK2 and NOD2 in leprosy.
PLoS Pathog;
19(3): e1011260, 2023 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36972292
7.
A computational approach for detecting physiological homogeneity in the midst of genetic heterogeneity.
Am J Hum Genet;
108(6): 1012-1025, 2021 06 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34015270
8.
Neurologic complications in herpes simplex encephalitis: clinical, immunological and genetic studies.
Brain;
146(10): 4306-4319, 2023 10 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37453099
9.
Genome-wide association study of resistance to Mycobacterium tuberculosis infection identifies a locus at 10q26.2 in three distinct populations.
PLoS Genet;
17(3): e1009392, 2021 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-33661925
10.
Clinical, Immunological, and Genetic Findings in Iranian Patients with MHC-II Deficiency: Confirmation of c.162delG RFXANK Founder Mutation in the Iranian Population.
J Clin Immunol;
43(8): 1941-1952, 2023 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37584719
11.
Autoantibodies Neutralizing Type I IFNs in the Bronchoalveolar Lavage of at Least 10% of Patients During Life-Threatening COVID-19 Pneumonia.
J Clin Immunol;
43(6): 1093-1103, 2023 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-37209324
12.
No increased prevalence of autoantibodies neutralizing type I IFNs in idiopathic pulmonary fibrosis patients.
Respir Res;
24(1): 87, 2023 Mar 20.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36941652
13.
A genome-wide case-only test for the detection of digenic inheritance in human exomes.
Proc Natl Acad Sci U S A;
117(32): 19367-19375, 2020 08 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32719112
14.
Genetic and immunologic evaluation of children with inborn errors of immunity and severe or critical COVID-19.
J Allergy Clin Immunol;
150(5): 1059-1073, 2022 11.
Artigo
em Inglês
| MEDLINE
| ID: mdl-36113674
15.
Taking population stratification into account by local permutations in rare-variant association studies on small samples.
Genet Epidemiol;
45(8): 821-829, 2021 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34402542
16.
Autoantibodies Neutralizing Type I Interferons in 20% of COVID-19 Deaths in a French Hospital.
J Clin Immunol;
42(3): 459-470, 2022 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-35083626
17.
Family-based genome-wide association study of leprosy in Vietnam.
PLoS Pathog;
16(5): e1008565, 2020 05.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32421744
18.
The complex pattern of genetic associations of leprosy with HLA class I and class II alleles can be reduced to four amino acid positions.
PLoS Pathog;
16(8): e1008818, 2020 08.
Artigo
em Inglês
| MEDLINE
| ID: mdl-32776973
19.
Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry.
Proc Natl Acad Sci U S A;
116(21): 10430-10434, 2019 05 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31068474
20.
Pleiotropic effects for Parkin and LRRK2 in leprosy type-1 reactions and Parkinson's disease.
Proc Natl Acad Sci U S A;
116(31): 15616-15624, 2019 07 30.
Artigo
em Inglês
| MEDLINE
| ID: mdl-31308240