Javni dostop

A straightforward guide to the sarcomeric basis of cardiomyopathies

LR Lopes, PM Elliott

Heart 100 (24), 1916-1923, 2014

Zahteve: Fundação para a Ciência e a Tecnologia, Portugal

Use of high-throughput targeted exome-sequencing to screen for copy number variation in hypertrophic cardiomyopathy

LR Lopes, C Murphy, P Syrris, C Dalageorgou, WJ McKenna, PM Elliott, ...

European journal of medical genetics 58 (11), 611-616, 2015

Zahteve: Fundação para a Ciência e a Tecnologia, Portugal, British Heart Foundation …

Myocardial work is associated with significant left ventricular myocardial fibrosis in patients with hypertrophic cardiomyopathy

AV Gonçalves, SA Rosa, L Branco, A Galrinho, A Fiarresga, LR Lopes, ...

The International Journal of Cardiovascular Imaging 37, 2237-2244, 2021

Zahteve: UK Medical Research Council

Na voljo nekje: 38

[HTML] nature.com

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

Zahteve: UK Biotechnology and Biological Sciences Research Council, British Heart …

[HTML] oup.com

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

Zahteve: German Research Foundation

[HTML] nature.com

Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.

Nature Communications, 2015

Zahteve: Canadian Institutes of Health Research, Fonds de recherche du Québec - Santé …

[HTML] bmj.com

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

Zahteve: British Heart Foundation, UK Medical Research Council, Wellcome Trust

[PDF] ucl.ac.uk

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

Zahteve: British Heart Foundation, UK Medical Research Council, National Institute …

[HTML] bmj.com

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

Zahteve: Fundação para a Ciência e a Tecnologia, Portugal, British Heart Foundation …

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

Zahteve: British Heart Foundation, UK Medical Research Council, National Institute …

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

Zahteve: British Heart Foundation, UK Medical Research Council, National Institute …

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

Zahteve: UK Medical Research Council, National Institute for Health Research, UK …

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

Zahteve: Fundação para a Ciência e a Tecnologia, Portugal, British Heart Foundation …

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

Zahteve: US National Institutes of Health, Fundação para a Ciência e a Tecnologia …

[PDF] thelancet.com

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

Zahteve: British Heart Foundation, UK Medical Research Council, National Institute …

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

Zahteve: National Institute for Health Research, UK, Government of Spain

[PDF] oup.com

Diagnostic yield of molecular autopsy in patients with sudden arrhythmic death syndrome using targeted exome sequencing.

N LM, L LR, S P

Europace, 2015

Zahteve: US National Institutes of Health, Fundação para a Ciência e a Tecnologia …

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

Zahteve: British Heart Foundation, National Institute for Health Research, UK

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

Zahteve: Banking Foundation "la Caixa", British Heart Foundation, UK Medical Research …

[PDF] oup.com