Browse by UCL people
Group by: Type | Date
Number of items: 56.
Article
Akhtar, MM;
Lorenzini, M;
Cicerchia, M;
Ochoa, JP;
Hey, TM;
Sabater Molina, M;
Restrepo-Cordoba, MA;
... European Genetic Cardiomyopathies Initiative Investigators; + view all
(2020)
Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene.
Circulation: Heart Failure
, 13
(10)
, Article e006832. 10.1161/CIRCHEARTFAILURE.119.006832.
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Al-Numair, NS;
Lopes, L;
Syrris, P;
Monserrat, L;
Elliott, P;
Martin, AC;
(2016)
The structural effects of mutations can aid in differential phenotype prediction of beta-myosin heavy chain (Myosin-7) missense variants.
Bioinformatics
, 32
(19)
pp. 2947-2955.
10.1093/bioinformatics/btw362.
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Alfarih, M;
Syrris, P;
Arbustini, E;
Augusto, JB;
Hughes, A;
Lloyd, G;
Lopes, LR;
... Captur, G; + view all
(2019)
Familial cardiomyopathy caused by a novel heterozygous mutation in the gene LMNA (c.1434dupG): a cardiac MRI-augmented segregation study.
Acta Myologica
, 38
(3)
pp. 159-162.
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Augusto, JB;
Davies, RH;
Bhuva, AN;
Knott, KD;
Seraphim, A;
Alfarih, M;
Lau, C;
... Moon, JC; + view all
(2020)
Diagnosis and risk stratification in hypertrophic cardiomyopathy using machine learning wall thickness measurement: a comparison with human test-retest performance.
The Lancet Digital Health
10.1016/s2589-7500(20)30267-3.
(In press).
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Augusto, JB;
Eiros, R;
Nakou, E;
Moura-Ferreira, S;
Treibel, TA;
Captur, G;
Akhtar, MA;
... Lopes, LR; + view all
(2020)
Dilated cardiomyopathy and arrhythmogenic left ventricular cardiomyopathy: a comprehensive genotype-imaging phenotype study.
European Heart Journal: Cardiovascular Imaging
, 21
(3)
pp. 326-336.
10.1093/ehjci/jez188.
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Aung, Nay;
Lopes, Luis R;
van Duijvenboden, Stefan;
Harper, Andrew R;
Goel, Anuj;
Grace, Christopher;
Ho, Carolyn Y;
... Munroe, Patricia B; + view all
(2023)
Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy.
Circulation: Genomic and Precision Medicine
, 16
(1)
, Article e003716. 10.1161/CIRCGEN.122.003716.
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Aung, Nay;
Nicholls, Hannah L;
Anwar, C Anwar A;
Khanji, Mohammed Y;
Rauseo, Elisa;
Chadalavada, Sucharitha;
Petersen, Steffen E;
... Lopes, Luis R; + view all
(2024)
Prevalence, Cardiac Phenotype, and Outcomes of Transthyretin Variants in the UK Biobank Population.
JAMA Cardiology
10.1001/jamacardio.2024.2190.
(In press).
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Bermudez-Jimenez, Francisco J;
Protonotarios, Alexandros;
García-Hernández, Soledad;
Pérez Asensio, Ana;
Rampazzo, Alessandra;
Zorio, Esther;
Brodehl, Andreas;
... Jimenez-Jaimez, Juan; + view all
(2024)
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
JACC: Clinical Electrophysiology
, 10
(6)
pp. 1178-1190.
10.1016/j.jacep.2024.02.031.
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Bugiardini, Enrico;
Nunes, Andreia M;
Oliveira-Santos, Ariany;
Dagda, Marisela;
Fontelonga, Tatiana M;
Barraza-Flores, Pamela;
Pittman, Alan M;
... Burkin, Dean J; + view all
(2022)
Integrin α7 Mutations Are Associated With Adult-Onset Cardiac Dysfunction in Humans and Mice.
Journal of the American Heart Association Cardiovascular and Cerebrovascular Disease
, Article e026494. 10.1161/JAHA.122.026494.
(In press).
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Camaioni, C;
Knott, KD;
Augusto, JB;
Seraphim, A;
Rosmini, S;
Ricci, F;
Boubertakh, R;
... Moon, JC; + view all
(2019)
Inline perfusion mapping provides insights into the disease mechanism in hypertrophic cardiomyopathy.
Heart
10.1136/heartjnl-2019-315848.
(In press).
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Captur, G;
Mohun, TJ;
Finocchiaro, G;
Wilson, R;
Levine, J;
Conner, L;
Lopes, L;
... Moon, J; + view all
(2014)
Advanced assessment of cardiac morphology and prediction of gene carriage by CMR in hypertrophic cardiomyopathy - the HCMNet/UCL collaboration.
Journal of Cardiovascular Magnetic Resonance
, 16
(Suppl 1)
, Article O30. 10.1186/1532-429X-16-S1-O30.
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Captur, Gabriella;
Lopes, Luis R;
Mohun, Timothy J;
Patel, Vimal;
Li, Chunming;
Bassett, Paul;
Finocchiaro, Gherardo;
... Moon, James C; + view all
(2014)
Prediction of Sarcomere Mutations in Subclinical Hypertrophic Cardiomyopathy.
Circulation: Cardiovascular Imaging
, 7
(6)
pp. 863-871.
10.1161/CIRCIMAGING.114.002411.
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Captur, G;
Heywood, WE;
Coats, C;
Rosmini, S;
Patel, V;
Lopes, LR;
Collis, R;
... Mills, K; + view all
(2020)
Identification of a Multiplex Biomarker Panel for Hypertrophic Cardiomyopathy using Quantitative Proteomics and Machine Learning.
Molecular & Cellular Proteomics
, 19
(1)
pp. 114-127.
10.1074/mcp.RA119.001586.
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Cardim, N;
Brito, D;
Rocha Lopes, L;
Freitas, A;
Araújo, C;
Belo, A;
Gonçalves, L;
... participating centres; + view all
(2018)
The Portuguese Registry of Hypertrophic Cardiomyopathy: Overall results.
Revista Portuguesa de Cardiologia
, 37
(1)
pp. 1-10.
10.1016/j.repc.2017.08.005.
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Charron, P;
Elliott, PM;
Gimeno, JR;
Caforio, ALP;
Kaski, JP;
Tavazzi, L;
Tendera, M;
... Maggioni, AP; + view all
(2018)
The Cardiomyopathy Registry of the EURObservational Research Programme of the European Society of Cardiology: baseline data and contemporary management of adult patients with cardiomyopathies.
European Heart Journal
, 39
(20)
pp. 1784-1793.
10.1093/eurheartj/ehx819.
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Coats, CJ;
Heywood, WE;
Virasami, A;
Ashrafi, N;
Syrris, P;
dos Remedios, C;
Treibel, TA;
... Elliott, PM; + view all
(2018)
Proteomic Analysis of the Myocardium in Hypertrophic Obstructive Cardiomyopathy.
Circulation: Genomic and Precision Medicine
, 11
(12)
, Article e001974. 10.1161/CIRCGEN.117.001974.
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Custodio, Pedro;
De Campos, Diana;
Moura, Ana Rita;
Shiwani, Hunain;
Savvatis, Konstantinos;
Joy, George;
Lambiase, Pier D;
... Lopes, Luis R; + view all
(2024)
Mitral Annulus Disjunction: A Comprehensive Cardiovascular Magnetic Resonance Phenotype and Clinical Outcomes Study.
Journal of Magnetic Resonance Imaging
10.1002/jmri.29524.
(In press).
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Domínguez, F;
Cuenca, S;
Bilińska, Z;
Toro, R;
Villard, E;
Barriales-Villa, R;
Ochoa, JP;
... European Genetic Cardiomyopathies Initiative Investigators, .; + view all
(2018)
Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations.
Journal of the American College of Cardiology
, 72
(20)
pp. 2471-2481.
10.1016/j.jacc.2018.08.2181.
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Field, Ella;
Lopes, Luis R;
Dady, Kathleen;
Kaski, Juan Pablo;
(2022)
Early Childhood-Onset Hypertrophic Cardiomyopathy in a Family With an In-Frame MYH7 Deletion.
Circulation: Genomic and Precision Medicine
, 15
(4)
, Article e003667. 10.1161/CIRCGEN.121.003667.
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G. Almeida, A;
Almeida, A;
Melo, T;
Guerra, L;
Lopes, L;
Ribeiro, P;
Duarte, M;
... Fontes‐Carvalho, R; + view all
(2019)
New prospects for the management of cardiovascular effects of tyrosine kinase inhibitors in patients with chronic myeloid leukemia.
Revista Portuguesa de Cardiologia
, 38
(1)
pp. 1-9.
10.1016/j.repc.2017.10.013.
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Gimeno, JR;
Elliott, PM;
Tavazzi, L;
Tendera, M;
Kaski, JP;
Laroche, C;
Barriales-Villa, R;
... EORP Cardiomyopathy Registry Investigators group, .; + view all
(2021)
Prospective follow-up in various subtypes of cardiomyopathies: Insights from the ESC EORP Cardiomyopathy Registry.
European Heart Journal - Quality of Care and Clinical Outcomes
, 7
(2)
pp. 134-142.
10.1093/ehjqcco/qcaa075.
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Gossios, TD;
Providencia, R;
Creta, A;
Segal, OR;
Nikolenko, N;
Turner, C;
Lopes, LR;
... Savvatis, K; + view all
(2022)
An overview of heart rhythm disorders and management in myotonic dystrophy type 1.
Heart Rhythm
, 19
(3)
pp. 497-504.
10.1016/j.hrthm.2021.11.028.
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Haas, J;
Frese, KS;
Peil, B;
Kloos, W;
Keller, A;
Nietsch, R;
Feng, Z;
... Meder, B; + view all
(2015)
Atlas of the clinical genetics of human dilated cardiomyopathy.
European Heart Journal
, 36
(18)
1123-U43.
10.1093/eurheartj/ehu301.
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Haworth, S;
Shapland, CY;
Hayward, C;
Prins, BP;
Felix, JF;
Medina-Gomez, C;
Rivadeneira, F;
... St Pourcain, B; + view all
(2019)
Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.
Nature Communications
, 10
, Article 357. 10.1038/s41467-018-07863-x.
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Hendricks, AE;
Bochukova, EG;
Marenne, G;
Keogh, JM;
Atanassova, N;
Bounds, R;
Wheeler, E;
... Bhattacharyaa, S; + view all
(2017)
Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.
Scientific Reports
, 7
(1)
, Article 4394. 10.1038/s41598-017-03054-8.
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Huang, J;
Howie, B;
McCarthy, S;
Memari, Y;
Walter, K;
Min, JL;
Danecek, P;
... Soranzo, N; + view all
(2015)
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel.
Nature Communications
, 6
(811)
10.1038/ncomms9111.
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Hughes, Rebecca K;
Augusto, João B;
Knott, Kristopher;
Davies, Rhodri;
Shiwani, Hunain;
Seraphim, Andreas;
Malcolmson, James W;
... Moon, James C; + view all
(2023)
Apical Ischemia Is a Universal Feature of Apical Hypertrophic Cardiomyopathy.
Circulation: Cardiovascular Imaging
, 16
(3)
, Article e014907. 10.1161/CIRCIMAGING.122.014907.
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Hughes, RK;
Camaioni, C;
Augusto, JB;
Knott, K;
Quinn, E;
Captur, G;
Seraphim, A;
... Moon, JC; + view all
(2021)
Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers.
Journal of the American Heart Association
, 10
, Article e020227. 10.1161/JAHA.120.020227.
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Jones, DM;
Lopes, L;
Quinlivan, R;
Elliott, PM;
Khanji, MY;
(2019)
Cardiac manifestations of McArdle disease.
European Heart Journal
, 40
(4)
pp. 397-398.
10.1093/eurheartj/ehy783.
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Joy, George;
Kelly, Christopher I;
Webber, Matthew;
Pierce, Iain;
Teh, Irvin;
McGrath, Louise;
Velazquez, Paula;
... Lopes, Luis R; + view all
(2023)
Microstructural and Microvascular Phenotype of Sarcomere Mutation Carriers and Overt Hypertrophic Cardiomyopathy.
Circulation
10.1161/CIRCULATIONAHA.123.063835.
(In press).
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Joy, George;
Lopes, Luis R;
Webber, Matthew;
Ardissino, Alessandra M;
Wilson, James;
Chan, Fiona;
Pierce, Iain;
... Captur, Gabriella; + view all
(2024)
Electrophysiological Characterization of Subclinical and Overt Hypertrophic Cardiomyopathy by Magnetic Resonance Imaging-Guided Electrocardiography.
Journal of the American College of Cardiology
, 83
(11)
pp. 1042-1055.
10.1016/j.jacc.2024.01.006.
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Joy, George;
Moon, James C;
Lopes, Luis R;
(2023)
Detection of subclinical hypertrophic cardiomyopathy.
Nature Reviews Cardiology
, 20
(6)
pp. 369-370.
10.1038/s41569-023-00853-7.
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Lopes, LR;
Murphy, D;
Bugiardini, E;
Salem, R;
Jager, J;
Futema, M;
Akhtar, MM;
... Elliott, PM; + view all
(2021)
Iterative Reanalysis of Hypertrophic Cardiomyopathy Exome Data Reveals Causative Pathogenic Mitochondrial DNA Variants.
Circulation: Genomic and Precision Medicine
, 14
(3)
, Article e003388. 10.1161/CIRCGEN.121.003388.
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Lopes, Luis R;
Losi, Maria-Angela;
Sheikh, Nabeel;
Laroche, Cécile;
Charron, Philippe;
Gimeno, Juan;
Kaski, Juan P;
... Cardiomyopathy Registry Investigators Group, .; + view all
(2022)
Association Between Common Cardiovascular Risk Factors and Clinical Phenotype in Patients with Hypertrophic Cardiomyopathy From the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis Registry.
European Heart Journal - Quality of Care and Clinical Outcomes
10.1093/ehjqcco/qcac006.
(In press).
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Lopes, LR;
Aung, N;
van Duijvenboden, S;
Munroe, PB;
Elliott, PM;
Petersen, SE;
(2021)
Prevalence of Hypertrophic Cardiomyopathy in the UK Biobank Population.
JAMA Cardiology
, 6
(7)
pp. 852-854.
10.1001/jamacardio.2021.0689.
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Lopes, LR;
Barbosa, P;
Torrado, M;
Quinn, E;
Merino, A;
Ochoa, JP;
Jager, J;
... Elliott, PM; + view all
(2020)
Cryptic Splice-altering Variants in MYBPC3 Are a Prevalent Cause of Hypertrophic Cardiomyopathy.
Circulation: Genomic and Precision Medicine
, 13
(3)
, Article e002905. 10.1161/CIRCGEN.120.002905.
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Lopes, LR;
Futema, M;
Akhtar, MM;
Lorenzini, M;
Pittman, A;
Syrris, P;
Elliott, PM;
(2019)
Prevalence of TTR variants detected by whole-exome sequencing in hypertrophic cardiomyopathy.
The Journal of Protein Folding Disorders
, 26
(4)
pp. 243-247.
10.1080/13506129.2019.1665996.
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Lopes, LR;
Garcia-Hernández, S;
Lorenzini, M;
Futema, M;
Chumakova, O;
Zateyshchikov, D;
Isidoro-Garcia, M;
... Elliott, PM; + view all
(2021)
Alpha-protein kinase 3 (ALPK3)-truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy.
European Heart Journal
10.1093/eurheartj/ehab424.
(In press).
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Lopes, LR;
Syrris, P;
Guttmann, OP;
O'Mahony, C;
Tang, HC;
Dalageorgou, C;
Jenkins, S;
... Elliott, PM; + view all
(2015)
Novel genotype-phenotype associations demonstrated by high-throughput sequencing in patients with hypertrophic cardiomyopathy.
Heart
, 101
(4)
pp. 294-301.
10.1136/heartjnl-2014-306387.
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Lopez-Sainz, A;
Dominguez, F;
Lopes, LR;
Ochoa, JP;
Barriales-Villa, R;
Climent, V;
Linschoten, M;
... European Genetic Cardiomyopathies Initiative Investigators; + view all
(2020)
Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis.
Journal of the American College of Cardiology
, 76
(2)
pp. 186-197.
10.1016/j.jacc.2020.05.029.
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Lorenzini, M;
Khanji, MY;
Lopes, LR;
Manisty, C;
Savvatis, K;
(2021)
Cardiac magnetic resonance assessment of progressive myo-pericarditis due to cobalt cardiotoxicity.
European Heart Journal - Cardiovascular Imaging
, 22
(6)
e71.
10.1093/ehjci/jeaa272.
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Lorenzini, M;
Norrish, G;
Field, E;
Ochoa, JP;
Cicerchia, M;
Akhtar, MM;
Syrris, P;
... Elliott, PM; + view all
(2020)
Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers.
Journal of the American College of Cardiology
, 76
(5)
pp. 550-559.
10.1016/j.jacc.2020.06.011.
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Obianyo, C;
Captur, G;
Syrris, P;
Lopes, L;
Patel, V;
Reant, P;
Mirabel, M;
... Moon, JC; + view all
(2016)
It’s not just the mitral valve-abnormal motion of the whole aorto-mitral apparatus occurs in both overt and subclinical hypertrophic cardiomyopathy.
Journal of Cardiovascular Magnetic Resonance
, 18
(Suppl. 1)
, Article Q37. 10.1186/1532-429X-18-S1-Q37.
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Ochoa, JP;
Lopes, LR;
Pérez-Barbeito, M;
Cazón, L;
de la Torre-Carpente, MM;
Sonicheva-Paterson, N;
de Uña-Iglesias, D;
... Monserrat, L; + view all
(2020)
Deletions of specific exons of FHOD3 detected by next-generation-sequencing are associated with hypertrophic cardiomyopathy.
Clinical Genetics
, 98
(1)
pp. 86-90.
10.1111/cge.13759.
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Ochoa, JP;
Sabater-Molina, M;
García-Pinilla, JM;
Mogensen, J;
Restrepo-Córdoba, A;
Palomino-Doza, J;
Villacorta, E;
... Monserrat, L; + view all
(2018)
Formin Homology 2 Domain Containing 3 (FHOD3) Is a Genetic Basis for Hypertrophic Cardiomyopathy.
Journal of the American College of Cardiology
, 72
(20)
pp. 2457-2467.
10.1016/j.jacc.2018.10.001.
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Patel, V;
Asatryan, B;
Siripanthong, B;
Munroe, PB;
Tiku-Owens, A;
Lopes, LR;
Khanji, MY;
... Chahal, CAA; + view all
(2020)
State of the Art Review on Genetics and Precision Medicine in Arrhythmogenic Cardiomyopathy.
International Journal of Molecular Sciences
, 21
(18)
, Article 6615. 10.3390/ijms21186615.
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Protonotarios, A;
Brodehl, A;
Asimaki, A;
Jager, J;
Quinn, E;
Stanasiuk, C;
Ratnavadivel, S;
... Lopes, LR; + view all
(2021)
The Novel Desmin Variant p.Leu115Ile Is Associated With a Unique Form of Biventricular Arrhythmogenic Cardiomyopathy.
Canadian Journal of Cardiology
, 37
(6)
pp. 857-866.
10.1016/j.cjca.2020.11.017.
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Protonotarios, Alexandros;
Bariani, Riccardo;
Cappelletto, Chiara;
Pavlou, Menelaos;
García-García, Alba;
Cipriani, Alberto;
Protonotarios, Ioannis;
... Elliott, Perry M; + view all
(2022)
Importance of genotype for risk stratification in arrhythmogenic right ventricular cardiomyopathy using the 2019 ARVC risk calculator.
European Heart Journal
, Article ehac235. 10.1093/eurheartj/ehac235.
(In press).
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Restrepo-Cordoba, MA;
Wahbi, K;
Florian, AR;
Jimenez-Jaimez, J;
Politano, L;
Arad, M;
Climent-Paya, V;
... Garcia-Pavia, P; + view all
(2021)
Prevalence and clinical outcomes of dystrophin-associated dilated cardiomyopathy without severe skeletal myopathy.
European Journal of Heart Failure
, 23
(8)
pp. 1276-1286.
10.1002/ejhf.2250.
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Rosmini, S;
Biagini, E;
O'Mahony, C;
Bulluck, H;
Ruozi, N;
Lopes, LR;
Guttmann, O;
... Elliott, PM; + view all
(2017)
Relationship between aetiology and left ventricular systolic dysfunction in hypertrophic cardiomyopathy.
Heart
, 103
(4)
pp. 300-306.
10.1136/heartjnl-2016-310138.
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Salazar-Mendiguchía, J;
Barriales-Villa, R;
Lopes, LR;
Ochoa, JP;
Rodríguez-Vilela, A;
Palomino-Doza, J;
Larrañaga-Moreira, JM;
... Monserrat, L; + view all
(2020)
The p.(Cys150Tyr) variant in CSRP3 is associated with late-onset hypertrophic cardiomyopathy in heterozygous individuals.
European Journal of Medical Genetics
, 63
(12)
, Article 104079. 10.1016/j.ejmg.2020.104079.
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Savvatis, K;
Vissing, CR;
Klouvi, L;
Florian, A;
Rahman, M;
Béhin, A;
Fayssoil, A;
... Wahbi, K; + view all
(2022)
Cardiac Outcomes in Adults With Mitochondrial Diseases.
Journal of the American College of Cardiology
, 80
(15)
pp. 1421-1430.
10.1016/j.jacc.2022.08.716.
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Shiwani, Hunain;
Davies, Rhodri H;
Topriceanu, Constantin-Cristian;
Ditaranto, Raffaello;
Owens, Anjali;
Raman, Betty;
Augusto, João;
... PRECISION-HCM Collaborative; + view all
(2025)
Demographic-Based Personalized Left Ventricular Hypertrophy Thresholds for Hypertrophic Cardiomyopathy Diagnosis.
Journal of the American College of Cardiology
, 85
(7)
pp. 685-695.
10.1016/j.jacc.2024.10.082.
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Tyler, Z;
Guttmann, OP;
Dhinoja, M;
Oro, R;
Savvatis, K;
Mohiddin, S;
Sekhri, N;
... O'Mahony, C; + view all
(2020)
The Safety and Feasibility of Transitioning From Transfemoral to Transradial Access Left Ventricular Endomyocardial Biopsy.
Journal of Invasive Cardiology
, 32
(12)
E349-E354.
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Walter, K;
Min, JL;
Huang, J;
Crooks, L;
Memari, Y;
McCarthy, S;
Perry, JRB;
... Zhang, W; + view all
(2015)
The UK10K project identifies rare variants in health and disease.
Nature
, 526
(7571)
pp. 82-90.
10.1038/nature14962.
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Thesis
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Da Rocha Lopes, L;
(2015)
Genetic determinants and genotype-phenotype associations in hypertrophic cardiomyopathy - Contribution of a high-throughput sequencing approach.
Doctoral thesis , UCL (University College London).
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