Detalhe da pesquisa
1.
Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms.
Cell
; 170(1): 199-212.e20, 2017 Jun 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28666119
2.
Inaxaplin for Proteinuric Kidney Disease in Persons with Two APOL1 Variants.
N Engl J Med
; 388(11): 969-979, 2023 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-36920755
3.
The Lin28/let-7 axis regulates glucose metabolism.
Cell
; 147(1): 81-94, 2011 Sep 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21962509
4.
CRISPR-Cas9 Gene Editing for Sickle Cell Disease and ß-Thalassemia.
N Engl J Med
; 384(3): 252-260, 2021 01 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33283989
5.
Combined cytotoxic and immune-stimulatory gene therapy for primary adult high-grade glioma: a phase 1, first-in-human trial.
Lancet Oncol
; 24(9): 1042-1052, 2023 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-37657463
6.
Specificity of CRISPR-Cas9 Editing in Exagamglogene Autotemcel.
N Engl J Med
; 390(18): 1723-1725, 2024 May 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-38657268
7.
Analysis of protein-coding genetic variation in 60,706 humans.
Nature
; 536(7616): 285-91, 2016 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27535533
8.
Exercise improves health-related quality of life sleep and fatigue domains in adult high- and low-grade glioma patients.
Support Care Cancer
; 30(2): 1493-1500, 2022 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-34532753
9.
Imaging Errors in Distinguishing Pituitary Adenomas From Other Sellar Lesions.
J Neuroophthalmol
; 41(4): 512-518, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33630780
10.
Sequence variants in SLC16A11 are a common risk factor for type 2 diabetes in Mexico.
Nature
; 506(7486): 97-101, 2014 Feb 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-24390345
11.
Guidelines for Large-Scale Sequence-Based Complex Trait Association Studies: Lessons Learned from the NHLBI Exome Sequencing Project.
Am J Hum Genet
; 99(4): 791-801, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-27666372
12.
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Nature
; 493(7431): 216-20, 2013 Jan 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-23201682
13.
Transancestral fine-mapping of four type 2 diabetes susceptibility loci highlights potential causal regulatory mechanisms.
Hum Mol Genet
; 25(10): 2070-2081, 2016 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-26911676
14.
The power of gene-based rare variant methods to detect disease-associated variation and test hypotheses about complex disease.
PLoS Genet
; 11(4): e1005165, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25906071
15.
Simulation of Finnish population history, guided by empirical genetic data, to assess power of rare-variant tests in Finland.
Am J Hum Genet
; 94(5): 710-20, 2014 May 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24768551
16.
A novel test for recessive contributions to complex diseases implicates Bardet-Biedl syndrome gene BBS10 in idiopathic type 2 diabetes and obesity.
Am J Hum Genet
; 95(5): 509-20, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439097
17.
Age-related clonal hematopoiesis associated with adverse outcomes.
N Engl J Med
; 371(26): 2488-98, 2014 Dec 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-25426837
18.
Rare variants in PPARG with decreased activity in adipocyte differentiation are associated with increased risk of type 2 diabetes.
Proc Natl Acad Sci U S A
; 111(36): 13127-32, 2014 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25157153
19.
Genetic modifiers of EGFR dependence in non-small cell lung cancer.
Proc Natl Acad Sci U S A
; 111(52): 18661-6, 2014 Dec 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-25512530
20.
Distribution and medical impact of loss-of-function variants in the Finnish founder population.
PLoS Genet
; 10(7): e1004494, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25078778