Detalhe da pesquisa
1.
Novel pathological variants of NHP2 affect N-terminal domain flexibility, protein stability, H/ACA Ribonucleoprotein (RNP) complex formation and telomerase activity.
Hum Mol Genet
; 32(19): 2901-2912, 2023 09 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-37440454
2.
Integrating a Polygenic Risk Score into a clinical setting would impact risk predictions in familial breast cancer.
J Med Genet
; 61(2): 150-154, 2024 Jan 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-37580114
3.
PD-L1 and IDO1 are potential targets for treatment in patients with primary diffuse large B-cell lymphoma of the CNS.
Acta Oncol
; 60(4): 531-538, 2021 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-33579170
4.
Genome-wide meta-analysis identifies novel determinants of circulating serum progranulin.
Hum Mol Genet
; 27(3): 546-558, 2018 02 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29186428
5.
Discovery and Fine-Mapping of Glycaemic and Obesity-Related Trait Loci Using High-Density Imputation.
PLoS Genet
; 11(7): e1005230, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-26132169
6.
Identification and functional characterization of G6PC2 coding variants influencing glycemic traits define an effector transcript at the G6PC2-ABCB11 locus.
PLoS Genet
; 11(1): e1004876, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25625282
7.
The Genetic Landscape of Renal Complications in Type 1 Diabetes.
J Am Soc Nephrol
; 28(2): 557-574, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27647854
8.
Impact of common genetic determinants of Hemoglobin A1c on type 2 diabetes risk and diagnosis in ancestrally diverse populations: A transethnic genome-wide meta-analysis.
PLoS Med
; 14(9): e1002383, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28898252
9.
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
10.
Genome-wide associations between genetic and epigenetic variation influence mRNA expression and insulin secretion in human pancreatic islets.
PLoS Genet
; 10(11): e1004735, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25375650
11.
Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation.
PLoS Genet
; 10(2): e1004127, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-24516404
12.
Global genomic and transcriptomic analysis of human pancreatic islets reveals novel genes influencing glucose metabolism.
Proc Natl Acad Sci U S A
; 111(38): 13924-9, 2014 Sep 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-25201977
13.
Genome wide meta-analysis highlights the role of genetic variation in RARRES2 in the regulation of circulating serum chemerin.
PLoS Genet
; 10(12): e1004854, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25521368
14.
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
15.
Excess maternal transmission of variants in the THADA gene to offspring with type 2 diabetes.
Diabetologia
; 59(8): 1702-13, 2016 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-27155871
16.
Network-based analysis of genome wide association data provides novel candidate genes for lipid and lipoprotein traits.
Mol Cell Proteomics
; 12(11): 3398-408, 2013 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23882023
17.
The role of adiposity in cardiometabolic traits: a Mendelian randomization analysis.
PLoS Med
; 10(6): e1001474, 2013.
Artigo
em Inglês
| MEDLINE | ID: mdl-23824655
18.
Somatic Exonic Deletions in RUNX1 Constitutes a Novel Recurrent Genomic Abnormality in Acute Myeloid Leukemia.
Clin Cancer Res
; 29(15): 2826-2834, 2023 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37022349
19.
Genetic insights into resting heart rate and its role in cardiovascular disease.
Nat Commun
; 14(1): 4646, 2023 08 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-37532724
20.
Five Percent Variant Allele Frequency Is a Reliable Reporting Threshold for TP53 Variants Detected by Next Generation Sequencing in Chronic Lymphocytic Leukemia in the Clinical Setting.
Hemasphere
; 6(8): e761, 2022 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-35935605