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.
The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Am J Hum Genet
; 97(2): 199-215, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166479
4.
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
5.
Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Genet Med
; 17(10): 782-8, 2015 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25569433
6.
The clinical utility of sequencing the entirety of CFTR.
J Cyst Fibros
; 2024 May 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-38734509
7.
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
8.
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
9.
Performance assessment of copy number microarray platforms using a spike-in experiment.
Bioinformatics
; 27(8): 1052-60, 2011 Apr 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-21478196
10.
Complete CFTR gene sequencing in 5,058 individuals with cystic fibrosis informs variant-specific treatment.
J Cyst Fibros
; 21(3): 463-470, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-34782259
11.
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
12.
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
13.
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
14.
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
15.
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
16.
Whole-Exome Sequencing in Familial Parkinson Disease.
JAMA Neurol
; 73(1): 68-75, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26595808
17.
Lessons learned from whole exome sequencing in multiplex families affected by a complex genetic disorder, intracranial aneurysm.
PLoS One
; 10(3): e0121104, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25803036
18.
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
19.
Mutations in Alström protein impair terminal differentiation of cardiomyocytes.
Nat Commun
; 5: 3416, 2014 Mar 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-24595103
20.
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