Browse by UCL people
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Number of items: 82.
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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Akhtar, MM;
Lorenzini, M;
Pavlou, M;
Ochoa, JP;
O'Mahony, C;
Restrepo-Cordoba, MA;
Segura-Rodriguez, D;
... Elliott, PM; + view all
(2021)
Association of Left Ventricular Systolic Dysfunction Among Carriers of Truncating Variants in Filamin C With Frequent Ventricular Arrhythmia and End-stage Heart Failure.
JAMA Cardiology
10.1001/jamacardio.2021.1106.
(In press).
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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;
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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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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Bueno Marinas, M;
Celeghin, R;
Cason, M;
Bariani, R;
Frigo, AC;
Jager, J;
Syrris, P;
... Pilichou, K; + view all
(2020)
A microRNA Expression Profile as Non-Invasive Biomarker in a Large Arrhythmogenic Cardiomyopathy Cohort.
International Journal of Molecular Sciences
, 21
(4)
, Article 1536. 10.3390/ijms21041536.
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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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Caforio, ALP;
Re, F;
Avella, A;
Marcolongo, R;
Baratta, P;
Seguso, M;
Gallo, N;
... Zachara, E; + view all
(2020)
Evidence from Family Studies for Autoimmunity in Arrhythmogenic Right Ventricular Cardiomyopathy: Associations of Circulating Anti-Heart and Anti-Intercalated Disk Autoantibodies with Disease Severity and Family History.
Circulation
, 141
(15)
pp. 1238-1248.
10.1161/CIRCULATIONAHA.119.043931.
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Cannie, Douglas;
Patel, Kush;
Protonotarios, Alexandros;
Heenan, Imogen;
Bakalakos, Athanasios;
Syrris, Petros;
Menezes, Leon;
(2024)
Prevalence of transthyretin cardiac amyloidosis in patients with high-degree AV block.
Open Heart
, 11
(1)
, Article e002606. 10.1136/openhrt-2024-002606.
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Cannie, Douglas E;
Protonotarios, Alexandros;
Bakalakos, Athanasios;
Syrris, Petros;
Lorenzini, Massimiliano;
De Stavola, Bianca;
Bjerregaard, Louise;
... Elliott, Perry M; + view all
(2023)
Risks of Ventricular Arrhythmia and Heart Failure in Carriers of RBM20 Variants.
Circulation: Genomic and Precision Medicine
, Article e004059. 10.1161/CIRCGEN.123.004059.
(In press).
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Cannie, Douglas E;
Syrris, Petros;
Protonotarios, Alexandros;
Bakalakos, Athanasios;
Pruny, Jean-Francois;
Ditaranto, Raffaello;
Martinez-Veira, Cristina;
... Elliott, Perry M; + view all
(2023)
Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.
European Heart Journal
, Article ehad561. 10.1093/eurheartj/ehad561.
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Captur, Gabriella;
Lopes, Luis R;
Patel, Vimal;
Li, Chunming;
Bassett, Paul;
Syrris, Petros;
Sado, Daniel M;
... Moon, James C; + view all
(2014)
Abnormal Cardiac Formation in Hypertrophic Cardiomyopathy Fractal Analysis of Trabeculae and Preclinical Gene Expression.
Circulation: Genomic and Precision Medicine
, 7
(3)
pp. 241-248.
10.1161/CIRCGENETICS.113.000362.
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Captur, Gabriella;
Syrris, Petros;
Obianyo, Chinwe;
Limongelli, Giuseppe;
Moon, James C;
(2015)
Formation and Malformation of Cardiac Trabeculae: Biological Basis, Clinical Significance, and Special Yield of Magnetic Resonance Imaging in Assessment.
Canadian Journal of Cardiology
, 31
(11)
pp. 1325-1337.
10.1016/j.cjca.2015.07.003.
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Captur, G;
Arbustini, E;
Bonne, G;
Syrris, P;
Mills, K;
Wahbi, K;
Mohiddin, SA;
... Moon, JC; + view all
(2018)
Lamin and the heart.
Heart
, 104
(6)
pp. 468-479.
10.1136/heartjnl-2017-312338.
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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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Captur, G;
James, M;
Petros, S;
William, M;
Eloisa, A;
DIna, R;
Ben, O;
(2018)
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Open Heart
, 5
(2)
, Article e000915. 10.1136/openhrt-2018-000915.
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Castelletti, S;
Vischer, AS;
Syrris, P;
Crotti, L;
Spazzolini, C;
Ghidoni, A;
Parati, G;
... Pantazis, A; + view all
(2017)
Desmoplakin missense and non-missense mutations in arrhythmogenic right ventricular cardiomyopathy: Genotype-phenotype correlation.
International Journal of Cardiology
, 249
pp. 268-273.
10.1016/j.ijcard.2017.05.018.
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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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de Frutos, F;
Ochoa, JP;
Navarro-Peñalver, M;
Baas, A;
Bjerre, JV;
Zorio, E;
Méndez, I;
... Negreira-Caamaño, M; + view all
(2022)
Natural History of MYH7-Related Dilated Cardiomyopathy.
Journal of the American College of Cardiology
, 80
(15)
pp. 1447-1461.
10.1016/j.jacc.2022.07.023.
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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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Dries, AM;
Kirillova, A;
Reuter, CM;
Garcia, J;
Zouk, H;
Hawley, M;
Murray, B;
... Parikh, VN; + view all
(2021)
Correction to: The genetic architecture of Plakophilin 2
cardiomyopathy.
[Corrigendum].
Genetics in Medicine
, 23
(10)
, Article 2014. 10.1038/s41436-021-01298-4.
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Dries, AM;
Kirillova, A;
Reuter, CM;
Garcia, J;
Zouk, H;
Hawley, M;
Murray, B;
... Parikh, VN; + view all
(2021)
The genetic architecture of Plakophilin 2 cardiomyopathy.
Genetics in Medicine
10.1038/s41436-021-01233-7.
(In press).
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Elliott, PM;
Anastasakis, A;
Asimaki, A;
Basso, C;
Bauce, B;
Brooke, MA;
Calkins, H;
... van Tintelen, JP; + view all
(2019)
Definition and treatment of arrhythmogenic cardiomyopathy: an updated expert panel report.
European Journal of Heart Failure
, 21
(8)
pp. 955-964.
10.1002/ejhf.1534.
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Field, E;
Norrish, G;
Acquaah, V;
Dady, K;
Cicerchia, M;
Ochoa, JP;
Syrris, P;
... Kaski, JP; + view all
(2021)
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.
Journal of Medical Genetics
10.1136/jmedgenet-2021-107774.
(In press).
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Finlay, MC;
Ahmed, AK;
Sugrue, A;
Bhar-Amato, J;
Quarta, G;
Pantazis, A;
Ciaccio, EJ;
... Lambiase, PD; + view all
(2014)
Dynamic Conduction and Repolarisation Changes in Early Arrhythmogenic Right Ventricular Cardiomyopathy versus Benign Outflow Tract Ectopy Demonstrated by High Density Mapping & Paced Surface ECG Analysis.
PLoS One
, 9
(7)
, Article e99125. 10.1371/journal.pone.0099125.
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García Hernandez, Soledad;
de la Higuera Romero, Luis;
Fernández, Adrián;
Peña-Peña, Maria Luisa;
Mora-Ayestaran, Nerea;
Basurte-Elorz, María Teresa;
Larrañaga-Moreira, José María;
... Ochoa, Juan Pablo; + view all
(2025)
Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate Effect Variants.
Circulation
10.1161/CIRCULATIONAHA.125.074529.
(In press).
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Gasperetti, A;
Carrick, R;
Protonotarios, A;
Laredo, M;
Van der Schaaf, I;
Syrris, P;
Murray, B;
... James, CA; + view all
(2024)
Long-Term Arrhythmic Follow-Up and Risk Stratification of Patients With Desmoplakin-Associated Arrhythmogenic Right Ventricular Cardiomyopathy.
JACC: Advances
, 3
(3)
, Article 100832. 10.1016/j.jacadv.2024.100832.
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Gasperetti, A;
Muller, SA;
Peretto, G;
Asatryan, B;
Protonotarios, A;
Laredo, M;
Tarlet, PY;
... Gilotra, NA; + view all
(2025)
Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants.
Circulation
, Article CIRCULATIONAHA.125.073919. 10.1161/CIRCULATIONAHA.125.073919.
(In press).
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Ghidoni, A;
Elliott, PM;
Syrris, P;
Calkins, H;
James, CA;
Judge, DP;
Murray, B;
... Crotti, L; + view all
(2021)
Cadherin 2-Related Arrhythmogenic Cardiomyopathy: Prevalence and Clinical Features.
Circulation: Genomic and Precision Medicine
, 14
(2)
, Article e003097. 10.1161/CIRCGEN.120.003097.
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Gomes, J;
Finlay, M;
Ahmed, AK;
Ciaccio, EJ;
Asimaki, A;
Saffitz, JE;
Quarta, G;
... Lambiase, PD; + view all
(2012)
Electrophysiological abnormalities precede overt structural changes in arrhythmogenic right ventricular cardiomyopathy due to mutations in desmoplakin-A combined murine and human study.
European Heart Journal
, 33
(15)
1942 -1953.
10.1093/eurheartj/ehr472.
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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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Hall, CL;
Akhtar, MM;
Sabater-Molina, M;
Futema, M;
Asimaki, A;
Protonotarios, A;
Dalageorgou, C;
... McKenna, WJ; + view all
(2020)
Filamin C variants are associated with a distinctive clinical and immunohistochemical arrhythmogenic cardiomyopathy phenotype.
International Journal of Cardiology
, 307
pp. 101-108.
10.1016/j.ijcard.2019.09.048.
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Hall, CL;
Gurha, P;
Sabater-Molina, M;
Asimaki, A;
Futema, M;
Lovering, RC;
Suárez, MP;
... Syrris, P; + view all
(2019)
RNA sequencing-based transcriptome profiling of cardiac tissue implicates novel putative disease mechanisms in FLNC-associated arrhythmogenic cardiomyopathy.
International Journal of Cardiology
10.1016/j.ijcard.2019.12.002.
(In press).
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Hall, CL;
Sutanto, H;
Dalageorgou, C;
McKenna, WJ;
Syrris, P;
Futema, M;
(2018)
Frequency of genetic variants associated with arrhythmogenic right ventricular cardiomyopathy in the genome aggregation database.
European Journal of Human Genetics
, 26
pp. 1312-1318.
10.1038/s41431-018-0169-4.
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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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Hoorntje, ET;
Posafalvi, A;
Syrris, P;
van der Velde, KJ;
Bolling, MC;
Protonotarios, A;
Boven, LG;
... Jongbloed, JDH; + view all
(2018)
No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.
PLoS One
, 13
(8)
, Article e0203078. 10.1371/journal.pone.0203078.
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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, 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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James, CA;
Jongbloed, JDH;
Hershberger, RE;
Morales, A;
Judge, DP;
Syrris, P;
Pilichou, K;
... van Tintelen, JP; + view all
(2021)
International Evidence Based Reappraisal of Genes Associated With Arrhythmogenic Right Ventricular Cardiomyopathy Using the Clinical Genome Resource Framework.
Circulation: Genomic and Precision Medicine
, 14
(3)
, Article e003273. 10.1161/CIRCGEN.120.003273.
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James, CA;
Syrris, P;
van Tintelen, JP;
Calkins, H;
(2020)
The role of genetics in cardiovascular disease: arrhythmogenic cardiomyopathy.
European Heart Journal
, 41
(14)
pp. 1393-1400.
10.1093/eurheartj/ehaa141.
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Jordan, E;
Peterson, L;
Ai, T;
Asatryan, B;
Bronicki, L;
Brown, E;
Celeghin, R;
... Hershberger, RE; + view all
(2021)
An Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Circulation
, 144
pp. 7-19.
10.1161/CIRCULATIONAHA.120.053033.
(In press).
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Karmouch, J;
Protonotarios, A;
Syrris, P;
(2018)
Genetic basis of arrhythmogenic cardiomyopathy.
Current Opinion in Cardiology
, 33
(3)
pp. 276-281.
10.1097/HCO.0000000000000509.
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Li, Kan Yan Chloe;
Syrris, Petros;
Bonnin, Anne;
Treibel, Thomas A;
Budhram-Mahadeo, Vishwanie;
Dejea, Hector;
Cook, Andrew C;
(2024)
Cryo-X-Ray Phase Contrast Imaging Enables Combined 3D Structural Quantification and Nucleic Acid Analysis of Myocardial Biopsies.
Advanced Science
, 11
(48)
, Article 2409163. 10.1002/advs.202409163.
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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, 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;
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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Marian, AJ;
Tan, Y;
Li, L;
Chang, JT;
Syrris, P;
Hessabi, M;
Rahbar, MH;
... Nagueh, SF; + view all
(2018)
Hypertrophy Regression with N-AcetyLcysTeine in Hypertrophic CardioMyopathy (HALT-HCM): A Randomized Placebo Controlled Double Blind Pilot Study.
Circulation Research
, 122
(8)
pp. 1109-1118.
10.1161/CIRCRESAHA.117.312647.
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Maruthappu, T;
Posafalvi, A;
Castelletti, S;
Delaney, PJ;
Syrris, P;
O'Toole, EA;
Green, KJ;
... Kelsell, DP; + view all
(2019)
Loss of function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.
British Journal of Dermatology
, 180
(5)
pp. 1114-1122.
10.1111/bjd.17388.
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McNamara, James W;
Parker, Benjamin L;
Voges, Holly K;
Mehdiabadi, Neda R;
Bolk, Francesca;
Ahmad, Feroz;
Chung, Jin D;
... Elliott, David A; + view all
(2023)
Alpha kinase 3 signaling at the M-band maintains sarcomere integrity and proteostasis in striated muscle.
Nature Cardiovascular Research
, 2
pp. 159-173.
10.1038/s44161-023-00219-9.
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Mogensen, J;
van Tintelen, JP;
Fokstuen, S;
Elliott, P;
van Langen, IM;
Meder, B;
Richard, P;
... Charron, P; + view all
(2015)
The current role of next-generation DNA sequencing in routine care of patients with hereditary cardiovascular conditions: a viewpoint paper of the European Society of Cardiology working group on myocardial and pericardial diseases and members of the European Society of Human Genetics.
European Heart Journal
, 36
(22)
pp. 1367-1370.
10.1093/eurheartj/ehv122.
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Monda, Emanuele;
Bakalakos, Athanasios;
Cannie, Douglas;
O'Mahony, Constantinos;
Syrris, Petros;
Kaski, Juan Pablo;
Limongelli, Giuseppe;
(2024)
Prevalence of Pathogenic Variants in Cardiomyopathy-Associated Genes in Acute Myocarditis: A Systematic Review and Meta-Analysis.
JACC: Heart Failure
, 12
(6)
pp. 1101-1111.
10.1016/j.jchf.2024.02.012.
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Monda, Emanuele;
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