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1.

Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.

Joy, George; Kelly, Christopher I; Webber, Matthew; Pierce, Iain; Teh, Irvin; McGrath, Louise; Velazquez, Paula; Hughes, Rebecca K; Kotwal, Huafrin; Das, Arka; Chan, Fiona; Bakalakos, Athanasios; Lorenzini, Massimiliano; Savvatis, Konstantinos; Mohiddin, Saidi A; Macfarlane, Peter W; Orini, Michele; Manisty, Charlotte; Kellman, Peter; Davies, Rhodri H; Lambiase, Pier D; Nguyen, Christopher; Schneider, Jurgen E; Tome, Maite; Captur, Gabriella; Dall'Armellina, Erica; Moon, James C; Lopes, Luis R.

Circulation; 148(10): 808-818, 2023 09 05.

Artículo en Inglés | MEDLINE | ID: mdl-37463608

2.

Structure determination and analysis of titin A-band fibronectin type III domains provides insights for disease-linked variants and protein oligomerisation.

Rees, Martin; Nikoopour, Roksana; Alexandrovich, Alexander; Pfuhl, Mark; Lopes, Luis R; Akhtar, Mohammed M; Syrris, Petros; Elliott, Perry; Carr-White, Gerry; Gautel, Mathias.

J Struct Biol; 215(3): 108009, 2023 09.

Artículo en Inglés | MEDLINE | ID: mdl-37549721

3.

Frequency, Penetrance, and Variable Expressivity of Dilated Cardiomyopathy-Associated Putative Pathogenic Gene Variants in UK Biobank Participants.

Shah, Ravi A; Asatryan, Babken; Sharaf Dabbagh, Ghaith; Aung, Nay; Khanji, Mohammed Y; Lopes, Luis R; van Duijvenboden, Stefan; Holmes, Anthony; Muser, Daniele; Landstrom, Andrew P; Lee, Aaron Mark; Arora, Pankaj; Semsarian, Christopher; Somers, Virend K; Owens, Anjali T; Munroe, Patricia B; Petersen, Steffen E; Chahal, C Anwar A.

Circulation; 146(2): 110-124, 2022 07 12.

Artículo en Inglés | MEDLINE | ID: mdl-35708014

4.

Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.

Field, Ella; Norrish, Gabrielle; Acquaah, Vanessa; Dady, Kathleen; Cicerchia, Marcos Nicolas; Ochoa, Juan Pablo; Syrris, Petros; McLeod, Karen; McGowan, Ruth; Fell, Hannah; Lopes, Luis R; Cervi, Elena; Kaski, Juan Pablo Pablo.

J Med Genet; 59(8): 768-775, 2022 08.

Artículo en Inglés | MEDLINE | ID: mdl-34400558

5.

Precision measurement of cardiac structure and function in cardiovascular magnetic resonance using machine learning.

Davies, Rhodri H; Augusto, João B; Bhuva, Anish; Xue, Hui; Treibel, Thomas A; Ye, Yang; Hughes, Rebecca K; Bai, Wenjia; Lau, Clement; Shiwani, Hunain; Fontana, Marianna; Kozor, Rebecca; Herrey, Anna; Lopes, Luis R; Maestrini, Viviana; Rosmini, Stefania; Petersen, Steffen E; Kellman, Peter; Rueckert, Daniel; Greenwood, John P; Captur, Gabriella; Manisty, Charlotte; Schelbert, Erik; Moon, James C.

J Cardiovasc Magn Reson; 24(1): 16, 2022 03 10.

Artículo en Inglés | MEDLINE | ID: mdl-35272664

6.

Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy Using Quantitative Proteomics and Machine Learning.

Captur, Gabriella; Heywood, Wendy E; Coats, Caroline; Rosmini, Stefania; Patel, Vimal; Lopes, Luis R; Collis, Richard; Patel, Nina; Syrris, Petros; Bassett, Paul; O'Brien, Ben; Moon, James C; Elliott, Perry M; Mills, Kevin.

Mol Cell Proteomics; 19(1): 114-127, 2020 01.

Artículo en Inglés | MEDLINE | ID: mdl-31243064

7.

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.

Lopes, Luis R; Garcia-Hernández, Soledad; Lorenzini, Massimiliano; Futema, Marta; Chumakova, Olga; Zateyshchikov, Dmitry; Isidoro-Garcia, Maria; Villacorta, Eduardo; Escobar-Lopez, Luis; Garcia-Pavia, Pablo; Bilbao, Raquel; Dobarro, David; Sandin-Fuentes, Maria; Catalli, Claudio; Gener Querol, Blanca; Mezcua, Ainhoa; Garcia Pinilla, Jose; Bloch Rasmussen, Torsten; Ferreira-Aguar, Ana; Revilla-Martí, Pablo; Basurte Elorz, Maria Teresa; Bautista Paves, Alicia; Ramon Gimeno, Juan; Figueroa, Ana Virginia; Franco-Gutierrez, Raul; Fuentes-Cañamero, Maria Eugenia; Martinez Moreno, Marina; Ortiz-Genga, Martin; Piqueras-Flores, Jesus; Analia Ramos, Karina; Rudzitis, Ainars; Ruiz-Guerrero, Luis; Stein, Ricardo; Triguero-Bocharán, Mayte; de la Higuera, Luis; Ochoa, Juan Pablo; Abu-Bonsrah, Dad; Kwok, Cecilia Y T; Smith, Jacob B; Porrello, Enzo R; Akhtar, Mohammed M; Jager, Joanna; Ashworth, Michael; Syrris, Petros; Elliott, David A; Monserrat, Lorenzo; Elliott, Perry M.

Eur Heart J; 42(32): 3063-3073, 2021 08 21.

Artículo en Inglés | MEDLINE | ID: mdl-34263907

8.

Deletions of specific exons of FHOD3 detected by next-generation sequencing are associated with hypertrophic cardiomyopathy.

Ochoa, Juan P; Lopes, Luis R; Perez-Barbeito, Marlene; Cazón-Varela, Laura; de la Torre-Carpente, Maria M; Sonicheva-Paterson, Natalia; De Uña-Iglesias, David; Quinn, Ellen; Kuzmina-Krutetskaya, Svetlana; Garrote, José A; Elliott, Perry M; Monserrat, Lorenzo.

Clin Genet; 98(1): 86-90, 2020 07.

Artículo en Inglés | MEDLINE | ID: mdl-32335906

9.

State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.

Patel, Viraj; Asatryan, Babken; Siripanthong, Bhurint; Munroe, Patricia B; Tiku-Owens, Anjali; Lopes, Luis R; Khanji, Mohammed Y; Protonotarios, Alexandros; Santangeli, Pasquale; Muser, Daniele; Marchlinski, Francis E; Brady, Peter A; Chahal, C Anwar A.

Int J Mol Sci; 21(18)2020 Sep 10.

Artículo en Inglés | MEDLINE | ID: mdl-32927679

10.

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

Nunn, Laurence M; Lopes, Luis R; Syrris, Petros; Murphy, Cian; Plagnol, Vincent; Firman, Eileen; Dalageorgou, Chrysoula; Zorio, Esther; Domingo, Diana; Murday, Victoria; Findlay, Iain; Duncan, Alexis; Carr-White, Gerry; Robert, Leema; Bueser, Teofila; Langman, Caroline; Fynn, Simon P; Goddard, Martin; White, Anne; Bundgaard, Henning; Ferrero-Miliani, Laura; Wheeldon, Nigel; Suvarna, Simon K; O'Beirne, Aliceson; Lowe, Martin D; McKenna, William J; Elliott, Perry M; Lambiase, Pier D.

Europace; 18(6): 888-96, 2016 Jun.

Artículo en Inglés | MEDLINE | ID: mdl-26498160

11.

Cardiovascular magnetic resonance imaging volume criteria for arrhythmogenic right ventricular cardiomyopathy: need for update?

Khanji, Mohammed Y; Chahal, Anwar A; Lopes, Luis R; Petersen, Steffen E.

Eur Heart J; 41(14): 1451, 2020 04 07.

Artículo en Inglés | MEDLINE | ID: mdl-32031606

12.

Genetics of heart failure.

Lopes, Luís R; Elliott, Perry M.

Biochim Biophys Acta; 1832(12): 2451-61, 2013 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-23298545

13.

Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing.

Lopes, Luis R; Zekavati, Anna; Syrris, Petros; Hubank, Mike; Giambartolomei, Claudia; Dalageorgou, Chrysoula; Jenkins, Sharon; McKenna, William; Plagnol, Vincent; Elliott, Perry M.

J Med Genet; 50(4): 228-39, 2013 Apr.

Artículo en Inglés | MEDLINE | ID: mdl-23396983

14.

Pregnancy in women with dilated cardiomyopathy genetic variants.

Restrepo-Córdoba, María Alejandra; Chmielewski, Przemyslaw; Truszkowska, Grazyna; Peña-Peña, María Luisa; Kubánek, Milos; Krebsová, Alice; Lopes, Luis R; García-Ropero, Álvaro; Merlo, Marco; Paldino, Alessia; Peters, Stacey; Jurcut, Ruxandra; Barriales-Villa, Roberto; Zorio, Esther; Hazebroek, Mark; Mogensen, Jens; García-Pavía, Pablo.

Rev Esp Cardiol (Engl Ed); 2024 Apr 18.

Artículo en Inglés, Español | MEDLINE | ID: mdl-38641168

15.

Electrophysiological Characterization of Subclinical and Overt Hypertrophic Cardiomyopathy by Magnetic Resonance Imaging-Guided Electrocardiography.

Joy, George; Lopes, Luis R; Webber, Matthew; Ardissino, Alessandra M; Wilson, James; Chan, Fiona; Pierce, Iain; Hughes, Rebecca K; Moschonas, Konstantinos; Shiwani, Hunain; Jamieson, Robert; Velazquez, Paula P; Vijayakumar, Ramya; Dall'Armellina, Erica; Macfarlane, Peter W; Manisty, Charlotte; Kellman, Peter; Davies, Rhodri H; Tome, Maite; Koncar, Vladan; Tao, Xuyuan; Guger, Christoph; Rudy, Yoram; Hughes, Alun D; Lambiase, Pier D; Moon, James C; Orini, Michele; Captur, Gabriella.

J Am Coll Cardiol; 83(11): 1042-1055, 2024 Mar 19.

Artículo en Inglés | MEDLINE | ID: mdl-38385929

16.

Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.

Bermudez-Jimenez, Francisco J; Protonotarios, Alexandros; García-Hernández, Soledad; Pérez Asensio, Ana; Rampazzo, Alessandra; Zorio, Esther; Brodehl, Andreas; Arias, Miguel A; Macías-Ruiz, Rosa; Fernández-Armenta, Juan; Remior Perez, Paloma; Muñoz-Esparza, Carmen; Pilichou, Kalliopi; Bauce, Barbara; Merino, Jose L; Moliner-Abós, Carlos; Ochoa, Juan P; Barriales-Villa, Roberto; Garcia-Pavia, Pablo; Lopes, Luis R; Syrris, Petros; Corrado, Domenico; Elliott, Perry M; McKenna, William J; Jimenez-Jaimez, Juan.

JACC Clin Electrophysiol; 2024 Apr 23.

Artículo en Inglés | MEDLINE | ID: mdl-38727660

17.

Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.

Aung, Nay; Lopes, Luis R; van Duijvenboden, Stefan; Harper, Andrew R; Goel, Anuj; Grace, Christopher; Ho, Carolyn Y; Weintraub, William S; Kramer, Christopher M; Neubauer, Stefan; Watkins, Hugh C; Petersen, Steffen E; Munroe, Patricia B.

Circ Genom Precis Med; 16(1): e003716, 2023 02.

Artículo en Inglés | MEDLINE | ID: mdl-36598836

18.

Three-dimensional echocardiography for the evaluation of hypertrophic cardiomyopathy patients: relation to symptoms and exercise capacity.

Cardoso, Isabel; Viegas, José Miguel; Rosa, Sílvia Aguiar; Brás, Pedro Garcia; Grazina, André; Cruz, Inês; Branco, Luísa Moura; Galrinho, Ana; Fiarresga, António; Lopes, Luís R; Ferreira, Rui Cruz.

Int J Cardiovasc Imaging; 39(12): 2475-2481, 2023 Dec.

Artículo en Inglés | MEDLINE | ID: mdl-37821713

19.

Apical Ischemia Is a Universal Feature of Apical Hypertrophic Cardiomyopathy.

Hughes, Rebecca K; Augusto, João B; Knott, Kristopher; Davies, Rhodri; Shiwani, Hunain; Seraphim, Andreas; Malcolmson, James W; Khoury, Shafik; Joy, George; Mohiddin, Saidi; Lopes, Luis R; McKenna, William J; Kellman, Peter; Xue, Hui; Tome, Maite; Sharma, Sanjay; Captur, Gabriella; Moon, James C.

Circ Cardiovasc Imaging; 16(3): e014907, 2023 03.

Artículo en Inglés | MEDLINE | ID: mdl-36943913

20.

Improved Diagnostic Criteria for Apical Hypertrophic Cardiomyopathy.

Hughes, Rebecca K; Shiwani, Hunain; Rosmini, Stefania; Augusto, João B; Burke, Liam; Jiang, Yue; Pierce, Iain; Joy, George; Castelletti, Silvia; Orini, Michele; Kellman, Peter; Xue, Hui; Lopes, Luis R; Mohiddin, Saidi; Treibel, Thomas; Manisty, Charlotte; Captur, Gabriella; Davies, Rhodri; Moon, James C.

JACC Cardiovasc Imaging; 2023 Sep 29.

Artículo en Inglés | MEDLINE | ID: mdl-37831014

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