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Luis Rocha Lopes
Luis Rocha Lopes
Preverjeni e-poštni naslov na ucl.ac.uk
Naslov
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Navedeno
Leto
The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT (co-chair) 7 8 14 19 ...
Nature 526 (7571), 82-90, 2015
11402015
Atlas of the clinical genetics of human dilated cardiomyopathy
J Haas, KS Frese, B Peil, W Kloos, A Keller, R Nietsch, Z Feng, S Müller, ...
European heart journal 36 (18), 1123-1135, 2015
6152015
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature Communications, 2015
4452015
Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
LR Lopes, A Zekavati, P Syrris, M Hubank, C Giambartolomei, ...
Journal of medical genetics 50 (4), 228-239, 2013
3312013
A systematic review and meta-analysis of genotype–phenotype associations in patients with hypertrophic cardiomyopathy caused by sarcomeric protein mutations
LR Lopes, MS Rahman, PM Elliott
Heart 99 (24), 1800-1811, 2013
2592013
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study
JB Augusto, R Eiros, E Nakou, S Moura-Ferreira, TA Treibel, G Captur, ...
European Heart Journal-Cardiovascular Imaging 21 (3), 326-336, 2020
1882020
Novel genotype–phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy
LR Lopes, P Syrris, OP Guttmann, C O'Mahony, HC Tang, C Dalageorgou, ...
Heart 101 (4), 294-301, 2015
1772015
Penetrance of hypertrophic cardiomyopathy in sarcomere protein mutation carriers
M Lorenzini, G Norrish, E Field, JP Ochoa, M Cicerchia, MM Akhtar, ...
Journal of the American College of Cardiology 76 (5), 550-559, 2020
1532020
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations
F Domínguez, S Cuenca, Z Bilińska, R Toro, E Villard, R Barriales-Villa, ...
Journal of the American College of Cardiology 72 (20), 2471-2481, 2018
1462018
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene
MM Akhtar, M Lorenzini, M Cicerchia, JP Ochoa, TM Hey, ...
Circulation: Heart Failure 13 (10), e006832, 2020
1382020
Abnormal cardiac formation in hypertrophic cardiomyopathy: fractal analysis of trabeculae and preclinical gene expression
G Captur, LR Lopes, V Patel, C Li, P Bassett, P Syrris, DM Sado, ...
Circulation: Cardiovascular Genetics 7 (3), 241-248, 2014
1172014
Prediction of sarcomere mutations in subclinical hypertrophic cardiomyopathy
G Captur, LR Lopes, TJ Mohun, V Patel, C Li, P Bassett, G Finocchiaro, ...
Circulation: Cardiovascular Imaging 7 (6), 863-871, 2014
1092014
Diagnosis and risk stratification in hypertrophic cardiomyopathy using machine learning wall thickness measurement: a comparison with human test-retest performance
JB Augusto, RH Davies, AN Bhuva, KD Knott, A Seraphim, M Alfarih, ...
The Lancet Digital Health 3 (1), e20-e28, 2021
1072021
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy
JP Ochoa, M Sabater-Molina, JM García-Pinilla, J Mogensen, ...
Journal of the American College of Cardiology 72 (20), 2457-2467, 2018
942018
Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.
N LM, L LR, S P
Europace, 2015
902015
Proteomic analysis of the myocardium in hypertrophic obstructive cardiomyopathy
CJ Coats, WE Heywood, A Virasami, N Ashrafi, P Syrris, C Dos Remedios, ...
Circulation: Genomic and Precision Medicine 11 (12), e001974, 2018
842018
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis
A Lopez-Sainz, F Dominguez, LR Lopes, JP Ochoa, R Barriales-Villa, ...
Journal of the American College of Cardiology 76 (2), 186-197, 2020
812020
Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy
LR Lopes, S Garcia-Hernández, M Lorenzini, M Futema, O Chumakova, ...
European heart journal 42 (32), 3063-3073, 2021
752021
A straightforward guide to the sarcomeric basis of cardiomyopathies
LR Lopes, PM Elliott
Heart 100 (24), 1916-1923, 2014
672014
Evaluation of left ventricular outflow tract gradient during treadmill exercise and in recovery period in orthostatic position, in patients with hypertrophic cardiomyopathy
R Miranda, C Cotrim, N Cardim, S Almeida, L Lopes, MJ Loureiro, ...
Cardiovascular Ultrasound 6, 1-7, 2008
662008
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