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1.
The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.
Am J Hum Genet
; 110(9): 1482-1495, 2023 09 07.
Article
in English
| MEDLINE | ID: mdl-37652022
2.
Whole-genome sequencing of patients with rare diseases in a national health system.
Nature
; 583(7814): 96-102, 2020 07.
Article
in English
| MEDLINE | ID: mdl-32581362
3.
Metabolic profiling of aortic stenosis and hypertrophic cardiomyopathy identifies mechanistic contrasts in substrate utilization.
FASEB J
; 38(6): e23505, 2024 Mar 31.
Article
in English
| MEDLINE | ID: mdl-38507255
4.
Apolipoprotein Proteomics for Residual Lipid-Related Risk in Coronary Heart Disease.
Circ Res
; 132(4): 452-464, 2023 02 17.
Article
in English
| MEDLINE | ID: mdl-36691918
5.
Efficacy and Safety of Aficamten in Symptomatic Nonobstructive Hypertrophic Cardiomyopathy: Results From the REDWOOD-HCM Trial, Cohort 4.
J Card Fail
; 2024 Mar 15.
Article
in English
| MEDLINE | ID: mdl-38493832
6.
Correction: A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.
PLoS Genet
; 17(4): e1009503, 2021 Apr.
Article
in English
| MEDLINE | ID: mdl-33822779
7.
Comparing the effects of chemical Ca2+ dyes and R-GECO on contractility and Ca2+ transients in adult and human iPSC cardiomyocytes.
J Mol Cell Cardiol
; 180: 44-57, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37127261
8.
Robust estimates of heritable coronary disease risk in individuals with type 2 diabetes.
Genet Epidemiol
; 46(1): 51-62, 2022 02.
Article
in English
| MEDLINE | ID: mdl-34672391
9.
Heritability and family-based GWAS analyses of the N-acyl ethanolamine and ceramide plasma lipidome.
Hum Mol Genet
; 30(6): 500-513, 2021 04 30.
Article
in English
| MEDLINE | ID: mdl-33437986
10.
Angiotensin receptor blockers and ß blockers in Marfan syndrome: an individual patient data meta-analysis of randomised trials.
Lancet
; 400(10355): 822-831, 2022 09 10.
Article
in English
| MEDLINE | ID: mdl-36049495
11.
CalTrack: High-Throughput Automated Calcium Transient Analysis in Cardiomyocytes.
Circ Res
; 129(2): 326-341, 2021 07 09.
Article
in English
| MEDLINE | ID: mdl-34018815
12.
A missense variant in Mitochondrial Amidoxime Reducing Component 1 gene and protection against liver disease.
PLoS Genet
; 16(4): e1008629, 2020 04.
Article
in English
| MEDLINE | ID: mdl-32282858
13.
Toward Replacing Late Gadolinium Enhancement With Artificial Intelligence Virtual Native Enhancement for Gadolinium-Free Cardiovascular Magnetic Resonance Tissue Characterization in Hypertrophic Cardiomyopathy.
Circulation
; 144(8): 589-599, 2021 08 24.
Article
in English
| MEDLINE | ID: mdl-34229451
14.
Right ventricular function declines prior to left ventricular ejection fraction in hypertrophic cardiomyopathy.
J Cardiovasc Magn Reson
; 24(1): 36, 2022 06 13.
Article
in English
| MEDLINE | ID: mdl-35692049
15.
Data-driven modelling of mutational hotspots and in silico predictors in hypertrophic cardiomyopathy.
J Med Genet
; 58(8): 556-564, 2021 08.
Article
in English
| MEDLINE | ID: mdl-32732227
16.
Myosin Sequestration Regulates Sarcomere Function, Cardiomyocyte Energetics, and Metabolism, Informing the Pathogenesis of Hypertrophic Cardiomyopathy.
Circulation
; 141(10): 828-842, 2020 03 10.
Article
in English
| MEDLINE | ID: mdl-31983222
17.
Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.
Circulation
; 141(5): 387-398, 2020 02 04.
Article
in English
| MEDLINE | ID: mdl-31983221
18.
Functional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Basic Res Cardiol
; 116(1): 14, 2021 02 26.
Article
in English
| MEDLINE | ID: mdl-33637999
19.
Measurement of Myofilament-Localized Calcium Dynamics in Adult Cardiomyocytes and the Effect of Hypertrophic Cardiomyopathy Mutations.
Circ Res
; 124(8): 1228-1239, 2019 04 12.
Article
in English
| MEDLINE | ID: mdl-30732532
20.
Incremental value of left atrial booster and reservoir strain in predicting atrial fibrillation in patients with hypertrophic cardiomyopathy: a cardiovascular magnetic resonance study.
J Cardiovasc Magn Reson
; 23(1): 109, 2021 10 11.
Article
in English
| MEDLINE | ID: mdl-34635131