Detalhe da pesquisa
1.
Molecular Choreography of Acute Exercise.
Cell
; 181(5): 1112-1130.e16, 2020 05 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32470399
2.
Longitudinal multi-omics of host-microbe dynamics in prediabetes.
Nature
; 569(7758): 663-671, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31142858
3.
Phenotypically Silent Bone Morphogenetic Protein Receptor 2 Mutations Predispose Rats to Inflammation-Induced Pulmonary Arterial Hypertension by Enhancing the Risk for Neointimal Transformation.
Circulation
; 140(17): 1409-1425, 2019 10 22.
Artigo
em Inglês
| MEDLINE | ID: mdl-31462075
4.
Biallelic loss-of-function WNT5A mutations in an infant with severe and atypical manifestations of Robinow syndrome.
Am J Med Genet A
; 176(4): 1030-1036, 2018 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29575631
5.
Genomic analysis of fibrolamellar hepatocellular carcinoma.
Hum Mol Genet
; 24(1): 50-63, 2015 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-25122662
6.
46,XY disorders of sex development and congenital diaphragmatic hernia: a case with dysmorphic facies, truncus arteriosus, bifid thymus, gut malrotation, rhizomelia, and adactyly.
Am J Med Genet A
; 167(6): 1360-4, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25898814
7.
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversible.
Nat Genet
; 38(12): 1397-405, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17086182
8.
Clinical interpretation and implications of whole-genome sequencing.
JAMA
; 311(10): 1035-45, 2014 Mar 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-24618965
9.
Personalized transcriptome signatures in a cardiomyopathy stem cell biobank.
bioRxiv
; 2024 May 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-38798547
10.
Filaggrin loss-of-function variants are associated with atopic dermatitis phenotypes in a diverse, early-life prospective cohort.
JCI Insight
; 9(9)2024 Apr 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-38564302
11.
A systematic approach to mapping recessive disease genes in individuals from outbred populations.
PLoS Genet
; 5(1): e1000353, 2009 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19165332
12.
Single-cell analyses define a continuum of cell state and composition changes in the malignant transformation of polyps to colorectal cancer.
Nat Genet
; 54(7): 985-995, 2022 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-35726067
13.
Whole transcriptome profiling of prospective endomyocardial biopsies reveals prognostic and diagnostic signatures of cardiac allograft rejection.
J Heart Lung Transplant
; 41(6): 840-848, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35317953
14.
Obesity Drives Delayed Infarct Expansion, Inflammation, and Distinct Gene Networks in a Mouse Stroke Model.
Transl Stroke Res
; 12(2): 331-346, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32588199
15.
Mapping of a new locus for congenital anomalies of the kidney and urinary tract on chromosome 8q24.
Nephrol Dial Transplant
; 25(5): 1496-501, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20007758
16.
Chromosome-level de novo assembly of the pig-tailed macaque genome using linked-read sequencing and HiC proximity scaffolding.
Gigascience
; 9(7)2020 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32649757
17.
Novel surface expression of reticulocalbin 1 on bone endothelial cells and human prostate cancer cells is regulated by TNF-alpha.
J Cell Biochem
; 104(6): 2298-309, 2008 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18561328
18.
Evolution of 8p loss in transformed human prostate epithelial cells.
Cancer Genet Cytogenet
; 154(1): 36-43, 2004 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-15381370
19.
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
J Clin Invest
; 120(3): 791-802, 2010 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-20179356
20.
Identification of BRAF as a new interactor of PLCepsilon1, the protein mutated in nephrotic syndrome type 3.
Am J Physiol Renal Physiol
; 294(1): F93-9, 2008 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-17942568