Detalhe da pesquisa
1.
Clonal hematopoiesis and risk of prostate cancer in large samples of European ancestry men.
Hum Mol Genet
; 32(3): 489-495, 2023 01 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-36018819
2.
Genetic Modifiers of Cystic Fibrosis Lung Disease Severity: Whole-Genome Analysis of 7,840 Patients.
Am J Respir Crit Care Med
; 207(10): 1324-1333, 2023 05 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-36921087
3.
Detecting and estimating contamination of human DNA samples in sequencing and array-based genotype data.
Am J Hum Genet
; 91(5): 839-48, 2012 Nov 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-23103226
4.
Germline Sequencing Analysis to Inform Clinical Gene Panel Testing for Aggressive Prostate Cancer.
JAMA Oncol
; 9(11): 1514-1524, 2023 Nov 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37733366
5.
Mutations in PCYT1A, encoding a key regulator of phosphatidylcholine metabolism, cause spondylometaphyseal dysplasia with cone-rod dystrophy.
Am J Hum Genet
; 94(1): 105-12, 2014 Jan 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-24387990
6.
A genome-wide association study on African-ancestry populations for asthma.
J Allergy Clin Immunol
; 125(2): 336-346.e4, 2010 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-19910028
7.
Germline Sequencing DNA Repair Genes in 5545 Men With Aggressive and Nonaggressive Prostate Cancer.
J Natl Cancer Inst
; 113(5): 616-625, 2021 05 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853339
8.
R/Bioconductor software for Illumina's Infinium whole-genome genotyping BeadChips.
Bioinformatics
; 25(19): 2621-3, 2009 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-19661241
9.
Multi-Omics Analysis Reveals a HIF Network and Hub Gene EPAS1 Associated with Lung Adenocarcinoma.
EBioMedicine
; 32: 93-101, 2018 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-29859855
10.
Generating Exome Enriched Sequencing Libraries from Formalin-Fixed, Paraffin-Embedded Tissue DNA for Next-Generation Sequencing.
Curr Protoc Hum Genet
; 92: 18.10.1-18.10.25, 2017 01 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28075488
11.
Novel Deletion of SERPINF1 Causes Autosomal Recessive Osteogenesis Imperfecta Type VI in Two Brazilian Families.
Mol Syndromol
; 5(6): 268-75, 2014 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-25565926
12.
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Nat Commun
; 5: 3416, 2014 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24595103
13.
Detectable clonal mosaicism from birth to old age and its relationship to cancer.
Nat Genet
; 44(6): 642-50, 2012 May 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-22561516
14.
Copy number variation in familial Parkinson disease.
PLoS One
; 6(8): e20988, 2011.
Artigo
em Inglês
| MEDLINE | ID: mdl-21829596
15.
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants.
Science
; 316(5829): 1341-5, 2007 Jun 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-17463248