Detalhe da pesquisa
1.
Genetic Drivers of Epigenetic and Transcriptional Variation in Human Immune Cells.
Cell
; 167(5): 1398-1414.e24, 2016 11 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-27863251
2.
KSR2 mutations are associated with obesity, insulin resistance, and impaired cellular fuel oxidation.
Cell
; 155(4): 765-77, 2013 Nov 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-24209692
3.
100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
N Engl J Med
; 385(20): 1868-1880, 2021 11 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34758253
4.
Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature
; 546(7660): 686, 2017 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28614302
5.
Common genetic variation drives molecular heterogeneity in human iPSCs.
Nature
; 546(7658): 370-375, 2017 06 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28489815
6.
Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes.
Am J Hum Genet
; 103(1): 3-18, 2018 07 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29909963
7.
Large-Scale Whole-Genome Sequencing Reveals the Genetic Architecture of Primary Membranoproliferative GN and C3 Glomerulopathy.
J Am Soc Nephrol
; 31(2): 365-373, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31919107
8.
A gain-of-function variant in DIAPH1 causes dominant macrothrombocytopenia and hearing loss.
Blood
; 127(23): 2903-14, 2016 06 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26912466
9.
G protein-coupled receptor kinase 5 regulates thrombin signaling in platelets via PAR-1.
Blood Adv
; 6(7): 2319-2330, 2022 04 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34581777
10.
Genetic variants influencing circulating lipid levels and risk of coronary artery disease.
Arterioscler Thromb Vasc Biol
; 30(11): 2264-76, 2010 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-20864672
11.
Exome Sequencing Identifies Genes and Gene Sets Contributing to Severe Childhood Obesity, Linking PHIP Variants to Repressed POMC Transcription.
Cell Metab
; 31(6): 1107-1119.e12, 2020 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-32492392
12.
LDL-cholesterol concentrations: a genome-wide association study.
Lancet
; 371(9611): 483-91, 2008 Feb 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-18262040
13.
Germline selection shapes human mitochondrial DNA diversity.
Science
; 364(6442)2019 05 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-31123110
14.
The Genetic Links to Anxiety and Depression (GLAD) Study: Online recruitment into the largest recontactable study of depression and anxiety.
Behav Res Ther
; 123: 103503, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31715324
15.
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Sci Rep
; 7(1): 4394, 2017 06 29.
Artigo
em Inglês
| MEDLINE | ID: mdl-28663568
16.
Platelet function is modified by common sequence variation in megakaryocyte super enhancers.
Nat Commun
; 8: 16058, 2017 07 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-28703137
17.
A dominant gain-of-function mutation in universal tyrosine kinase SRC causes thrombocytopenia, myelofibrosis, bleeding, and bone pathologies.
Sci Transl Med
; 8(328): 328ra30, 2016 Mar 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-26936507
18.
Prospective study of insulin-like growth factor-I, insulin-like growth factor-binding protein 3, genetic variants in the IGF1 and IGFBP3 genes and risk of coronary artery disease.
Int J Mol Epidemiol Genet
; 2(3): 261-85, 2011 Aug 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-21915365