Detalhe da pesquisa
1.
Human Adaptive Immunity Rescues an Inborn Error of Innate Immunity.
Cell
; 168(5): 789-800.e10, 2017 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-28235196
2.
Differences and commonalities in the genetic architecture of protein quantitative trait loci in European and Arab populations.
Hum Mol Genet
; 32(6): 907-916, 2023 03 06.
Artigo
Inglês
| MEDLINE | ID: mdl-36168886
3.
An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.
Immunity
; 39(4): 676-86, 2013 Oct 17.
Artigo
Inglês
| MEDLINE | ID: mdl-24120361
4.
A deep intronic splice mutation of STAT3 underlies hyper IgE syndrome by negative dominance.
Proc Natl Acad Sci U S A
; 116(33): 16463-16472, 2019 08 13.
Artigo
Inglês
| MEDLINE | ID: mdl-31346092
5.
Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.
Proc Natl Acad Sci U S A
; 113(24): 6713-8, 2016 06 14.
Artigo
Inglês
| MEDLINE | ID: mdl-27247391
6.
Single nucleotide variant counts computed from RNA sequencing and cellular traffic into human kidney allografts.
Am J Transplant
; 18(10): 2429-2442, 2018 10.
Artigo
Inglês
| MEDLINE | ID: mdl-29659169
7.
Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Proc Natl Acad Sci U S A
; 112(17): 5473-8, 2015 Apr 28.
Artigo
Inglês
| MEDLINE | ID: mdl-25827230
8.
The human gene damage index as a gene-level approach to prioritizing exome variants.
Proc Natl Acad Sci U S A
; 112(44): 13615-20, 2015 Nov 03.
Artigo
Inglês
| MEDLINE | ID: mdl-26483451
9.
Exome and genome sequencing for inborn errors of immunity.
J Allergy Clin Immunol
; 138(4): 957-969, 2016 10.
Artigo
Inglês
| MEDLINE | ID: mdl-27720020
10.
Mycobacterium simiae infection in two unrelated patients with different forms of inherited IFN-γR2 deficiency.
J Clin Immunol
; 34(8): 904-9, 2014 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-25135595
11.
Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.
Cell Genom
; 3(1): 100218, 2023 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36777185
12.
Retinal nerve fibre layer thinning and corneal nerve loss in patients with Bardet-Biedl syndrome.
BMC Med Genomics
; 16(1): 301, 2023 11 23.
Artigo
Inglês
| MEDLINE | ID: mdl-37996899
13.
Ratios of Acetaminophen Metabolites Identify New Loci of Pharmacogenetic Relevance in a Genome-Wide Association Study.
Metabolites
; 12(6)2022 May 30.
Artigo
Inglês
| MEDLINE | ID: mdl-35736429
14.
Detection of infiltrating fibroblasts by single-cell transcriptomics in human kidney allografts.
PLoS One
; 17(6): e0267704, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-35657798
15.
Whole genome sequencing in the Middle Eastern Qatari population identifies genetic associations with 45 clinically relevant traits.
Nat Commun
; 12(1): 1250, 2021 02 23.
Artigo
Inglês
| MEDLINE | ID: mdl-33623009
16.
Deep sequencing of DNA from urine of kidney allograft recipients to estimate donor/recipient-specific DNA fractions.
PLoS One
; 16(4): e0249930, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-33857204
17.
Inherited human c-Rel deficiency disrupts myeloid and lymphoid immunity to multiple infectious agents.
J Clin Invest
; 131(17)2021 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-34623332
18.
Identification of genetic variants controlling RNA editing and their effect on RNA structure stabilization.
Eur J Hum Genet
; 28(12): 1753-1762, 2020 12.
Artigo
Inglês
| MEDLINE | ID: mdl-32651550
19.
Microdeletion on chromosome 8p23.1 in a familial form of severe Buruli ulcer.
PLoS Negl Trop Dis
; 12(4): e0006429, 2018 04.
Artigo
Inglês
| MEDLINE | ID: mdl-29708969
20.
A recessive form of hyper-IgE syndrome by disruption of ZNF341-dependent STAT3 transcription and activity.
Sci Immunol
; 3(24)2018 06 15.
Artigo
Inglês
| MEDLINE | ID: mdl-29907691