Detalhe da pesquisa
1.
Genetic, Immunological, and Clinical Features of 32 Patients with Autosomal Recessive STAT1 Deficiency.
J Immunol;
207(1): 133-152, 2021 07 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34183371
2.
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
3.
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
4.
Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons.
Proc Natl Acad Sci U S A;
115(34): E8007-E8016, 2018 08 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30072435
5.
Mendelian Susceptibility to Mycobacterial Disease Caused by a Novel Founder IL12B Mutation in Saudi Arabia.
J Clin Immunol;
38(3): 278-282, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29589181
6.
A candidate gene study identifies a haplotype of CD2 as novel susceptibility factor for systemic sclerosis.
Clin Exp Rheumatol;
34 Suppl 100(5): 43-48, 2016.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27385538
7.
A regulatory variant in CCR6 is associated with susceptibility to antitopoisomerase-positive systemic sclerosis.
Arthritis Rheum;
65(12): 3202-8, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23983073
8.
TGFß receptor gene variants in systemic sclerosis-related pulmonary arterial hypertension: results from a multicentre EUSTAR study of European Caucasian patients.
Ann Rheum Dis;
71(11): 1900-3, 2012 Nov.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22896741
9.
Controlling for human population stratification in rare variant association studies.
Sci Rep;
11(1): 19015, 2021 09 24.
Artigo
em Inglês
| MEDLINE
| ID: mdl-34561511
10.
Tuberculosis and impaired IL-23-dependent IFN-γ immunity in humans homozygous for a common TYK2 missense variant.
Sci Immunol;
3(30)2018 12 21.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30578352
11.
The human CIB1-EVER1-EVER2 complex governs keratinocyte-intrinsic immunity to ß-papillomaviruses.
J Exp Med;
215(9): 2289-2310, 2018 09 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30068544
12.
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Sci Immunol;
3(24)2018 06 15.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29907691
13.
IRF4 haploinsufficiency in a family with Whipple's disease.
Elife;
72018 03 14.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29537367
14.
Inherited p40phox deficiency differs from classic chronic granulomatous disease.
J Clin Invest;
128(9): 3957-3975, 2018 08 31.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29969437
15.
Multiple testing in large-scale genetic studies.
Methods Mol Biol;
888: 213-33, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22665284
16.
SHIPS: Spectral Hierarchical clustering for the Inference of Population Structure in genetic studies.
PLoS One;
7(10): e45685, 2012.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23077494
17.
Independent replication and meta analysis of association studies establish TNFSF4 as a susceptibility gene preferentially associated with the subset of anticentromere-positive patients with systemic sclerosis.
J Rheumatol;
39(5): 997-1003, 2012 May.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22422496
18.
Accounting for population stratification in practice: a comparison of the main strategies dedicated to genome-wide association studies.
PLoS One;
6(12): e28845, 2011.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22216125