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.
The impact of GeneMatcher on international data sharing and collaboration.
Hum Mutat
; 43(6): 668-673, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170833
3.
Variant-level matching for diagnosis and discovery: Challenges and opportunities.
Hum Mutat
; 43(6): 782-790, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35191117
4.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Genet Med
; 24(4): 784-797, 2022 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35148959
5.
A Genome-wide Association Study of Nonsyndromic Cleft Palate Identifies an Etiologic Missense Variant in GRHL3.
Am J Hum Genet
; 98(4): 744-54, 2016 Apr 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27018472
6.
Insights into genetics, human biology and disease gleaned from family based genomic studies.
Genet Med
; 21(4): 798-812, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30655598
7.
A multi-ethnic genome-wide association study identifies novel loci for non-syndromic cleft lip with or without cleft palate on 2p24.2, 17q23 and 19q13.
Hum Mol Genet
; 25(13): 2862-2872, 2016 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27033726
8.
Genome-wide meta-analysis of homocysteine and methionine metabolism identifies five one carbon metabolism loci and a novel association of ALDH1L1 with ischemic stroke.
PLoS Genet
; 10(3): e1004214, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24651765
9.
Biology-Driven Gene-Gene Interaction Analysis of Age-Related Cataract in the eMERGE Network.
Genet Epidemiol
; 39(5): 376-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-25982363
10.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
JAMA
; 315(1): 47-57, 2016 Jan 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26746457
11.
The chromosome 3q25 genomic region is associated with measures of adiposity in newborns in a multi-ethnic genome-wide association study.
Hum Mol Genet
; 22(17): 3583-96, 2013 Sep 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-23575227
12.
Genetic variation associated with circulating monocyte count in the eMERGE Network.
Hum Mol Genet
; 22(10): 2119-27, 2013 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-23314186
13.
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
14.
Truncating mutations in the last exon of NOTCH3 cause lateral meningocele syndrome.
Am J Med Genet A
; 167A(2): 271-81, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25394726
15.
Common variants at 9p21 and 8q22 are associated with increased susceptibility to optic nerve degeneration in glaucoma.
PLoS Genet
; 8(4): e1002654, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-22570617
16.
Genotoxic colibactin mutational signature in colorectal cancer is associated with clinicopathological features, specific genomic alterations and better survival.
medRxiv
; 2024 Jan 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-37090539
17.
Stroke Genetics Network (SiGN) study: design and rationale for a genome-wide association study of ischemic stroke subtypes.
Stroke
; 44(10): 2694-702, 2013 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24021684
18.
Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2.
Ann Neurol
; 71(3): 370-84, 2012 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-22451204
19.
A genome-wide association study of alcohol dependence.
Proc Natl Acad Sci U S A
; 107(11): 5082-7, 2010 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-20202923
20.
Intra-familial tests of association between familial idiopathic scoliosis and linked regions on 9q31.3-q34.3 and 16p12.3-q22.2.
Hum Hered
; 74(1): 36-44, 2012.
Artigo
em Inglês
| MEDLINE | ID: mdl-23154503