Detalhe da pesquisa
1.
Genomic ancestry and social dynamics of the last hunter-gatherers of Atlantic France.
Proc Natl Acad Sci U S A
; 121(10): e2310545121, 2024 Mar 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-38408241
2.
Brugada syndrome in Japan and Europe: a genome-wide association study reveals shared genetic architecture and new risk loci.
Eur Heart J
; 2024 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-38747976
3.
Dyslipidemia, inflammation, calcification, and adiposity in aortic stenosis: a genome-wide study.
Eur Heart J
; 44(21): 1927-1939, 2023 06 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-37038246
4.
Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
Eur Heart J
; 43(17): 1668-1680, 2022 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-35245370
5.
Burden of rare variants in arrhythmogenic cardiomyopathy with right dominant form-associated genes provides new insights for molecular diagnosis and clinical management.
Hum Mutat
; 43(9): 1333-1342, 2022 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-35819174
6.
Correction: AVPR1a and SLC6A4 Gene Polymorphisms Are Associated with Creative Dance Performance.
PLoS Genet
; 15(4): e1008135, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-31026275
7.
Association of Coding Variants in Hydroxysteroid 17-beta Dehydrogenase 14 (HSD17B14) with Reduced Progression to End Stage Kidney Disease in Type 1 Diabetes.
J Am Soc Nephrol
; 32(10): 2634-2651, 2021 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-34261756
8.
Functionally validated SCN5A variants allow interpretation of pathogenicity and prediction of lethal events in Brugada syndrome.
Eur Heart J
; 42(29): 2854-2863, 2021 07 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-34219138
9.
Rare Coding Variants in ANGPTL6 Are Associated with Familial Forms of Intracranial Aneurysm.
Am J Hum Genet
; 102(1): 133-141, 2018 01 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304371
10.
Mutations in DCHS1 cause mitral valve prolapse.
Nature
; 525(7567): 109-13, 2015 Sep 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-26258302
11.
Shared genetic risk between eating disorder- and substance-use-related phenotypes: Evidence from genome-wide association studies.
Addict Biol
; 26(1): e12880, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32064741
12.
RRAD mutation causes electrical and cytoskeletal defects in cardiomyocytes derived from a familial case of Brugada syndrome.
Eur Heart J
; 40(37): 3081-3094, 2019 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31114854
13.
SMMB: a stochastic Markov blanket framework strategy for epistasis detection in GWAS.
Bioinformatics
; 34(16): 2773-2780, 2018 08 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-29547902
14.
New insights into mitral valve dystrophy: a Filamin-A genotype-phenotype and outcome study.
Eur Heart J
; 39(15): 1269-1277, 2018 04 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-29020406
15.
Seventy-five genetic loci influencing the human red blood cell.
Nature
; 492(7429): 369-75, 2012 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23222517
16.
Testing the burden of rare variation in arrhythmia-susceptibility genes provides new insights into molecular diagnosis for Brugada syndrome.
Hum Mol Genet
; 24(10): 2757-63, 2015 May 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25650408
17.
Utilizing the Jaccard index to reveal population stratification in sequencing data: a simulation study and an application to the 1000 Genomes Project.
Bioinformatics
; 32(9): 1366-72, 2016 05 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26722118
18.
De Novo Truncating Mutations in the Kinetochore-Microtubules Attachment Gene CHAMP1 Cause Syndromic Intellectual Disability.
Hum Mutat
; 37(4): 354-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26751395
19.
Variation in FTO contributes to childhood obesity and severe adult obesity.
Nat Genet
; 39(6): 724-6, 2007 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-17496892
20.
Novel association approach for variable number tandem repeats (VNTRs) identifies DOCK5 as a susceptibility gene for severe obesity.
Hum Mol Genet
; 21(16): 3727-38, 2012 Aug 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-22595969