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.
Rare variant associations with plasma protein levels in the UK Biobank.
Nature
; 622(7982): 339-347, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37794183
3.
The genetics of human performance.
Nat Rev Genet
; 23(1): 40-54, 2022 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34522035
4.
Personal omics profiling reveals dynamic molecular and medical phenotypes.
Cell
; 148(6): 1293-307, 2012 Mar 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-22424236
5.
Video-based AI for beat-to-beat assessment of cardiac function.
Nature
; 580(7802): 252-256, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32269341
6.
Improved Cardiac Performance and Decreased Arrhythmia in Hypertrophic Cardiomyopathy With Non-ß-Blocking R-Enantiomer Carvedilol.
Circulation
; 148(21): 1691-1704, 2023 11 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37850394
7.
Left Ventricular Systolic Dysfunction in Patients Diagnosed With Hypertrophic Cardiomyopathy During Childhood: Insights From the SHaRe Registry.
Circulation
; 148(5): 394-404, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37226762
8.
Polygenic risk scores for the prediction of cardiometabolic disease.
Eur Heart J
; 44(2): 89-99, 2023 01 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-36478054
9.
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
Eur Heart J
; 44(48): 5064-5073, 2023 Dec 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-37639473
10.
Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.
J Physiol
; 601(23): 5367-5389, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37883018
11.
Polygenic Risk Scores for Cardiovascular Disease: A Scientific Statement From the American Heart Association.
Circulation
; 146(8): e93-e118, 2022 08 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-35862132
12.
Genomics Research with Undiagnosed Children: Ethical Challenges at the Boundaries of Research and Clinical Care.
J Pediatr
; 261: 113537, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37271495
13.
Phenotypic Expression, Natural History, and Risk Stratification of Cardiomyopathy Caused by Filamin C Truncating Variants.
Circulation
; 144(20): 1600-1611, 2021 11 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-34587765
14.
Towards precision medicine.
Nat Rev Genet
; 17(9): 507-22, 2016 08 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-27528417
15.
Clinical characteristics and outcomes in childhood-onset hypertrophic cardiomyopathy.
Eur Heart J
; 42(20): 1988-1996, 2021 05 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-33769460
16.
Worldwide differences in primary prevention implantable cardioverter defibrillator utilization and outcomes in hypertrophic cardiomyopathy.
Eur Heart J
; 42(38): 3932-3944, 2021 10 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491319
17.
Functional and structural analysis of cytokine-selective IL6ST defects that cause recessive hyper-IgE syndrome.
J Allergy Clin Immunol
; 148(2): 585-598, 2021 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-33771552
18.
Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.
BMC Bioinformatics
; 22(1): 85, 2021 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-33627090
19.
Hypertrophic Cardiomyopathy With Left Ventricular Systolic Dysfunction: Insights From the SHaRe Registry.
Circulation
; 141(17): 1371-1383, 2020 04 28.
Artigo
em Inglês
| MEDLINE | ID: mdl-32228044
20.
Biallelic Mutations in ATP5F1D, which Encodes a Subunit of ATP Synthase, Cause a Metabolic Disorder.
Am J Hum Genet
; 102(3): 494-504, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29478781