Penetrance of Hypertrophic Cardiomyopathy in Sarcomere Protein Mutation Carriers

by Lorenzini, Massimiliano, Norrish, Gabrielle, Field, Ella, Ochoa, Juan Pablo, Cicerchia, Marcos, Akhtar, Mohammed M., Syrris, Petros, Lopes, Luis R., Kaski, Juan Pablo, Elliott, Perry M.
Published in Journal of the American College of Cardiology

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

by 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
Published in Molecular & cellular proteomics

Novel mutation in desmoplakin causes arrhythmogenic left ventricular cardiomyopathy

by NORMAN, Mark, SIMPSON, Michael, MOGENSEN, Jens, SHAW, Anthony, HUGHES, Sian, SYRRIS, Petros, SEN-CHOWDHRY, Srijita, ROWLAND, Edward, CROSBY, Andrew, MCKENNA, William J
Published in Circulation (New York, N.Y.)

Myocardial Perfusion Defects in Hypertrophic Cardiomyopathy Mutation Carriers

by Hughes, Rebecca K, Camaioni, Claudia, Augusto, João B, Knott, Kristopher, Quinn, Ellie, Captur, Gabriella, Seraphim, Andreas, Joy, George, Syrris, Petros, Elliott, Perry M, Mohiddin, Saidi, Kellman, Peter, Xue, Hui, Lopes, Luis R, Moon, James C
Published in Journal of the American Heart Association

Prevalence and Clinical Significance of Cardiovascular Abnormalities in Patients With the LEOPARD Syndrome

by Limongelli, Giuseppe, MD, PhD, Pacileo, Giuseppe, MD, Marino, Bruno, MD, Digilio, Maria Cristina, MD, Sarkozy, Anna, MD, Elliott, Perry, MD, Versacci, Paolo, MD, Calabro, Paolo, MD, De Zorzi, Andrea, MD, Di Salvo, Giovanni, MD, PhD, Syrris, Petros, PhD, Patton, Michael, MA, MB, ChB, MSc, McKenna, William J., MD, Dallapiccola, Bruno, MD, Calabro, Raffaele, MD
Published in The American journal of cardiology

Dynamic conduction and repolarisation changes in early arrhythmogenic right ventricular cardiomyopathy versus benign outflow tract ectopy demonstrated by high density mapping & pac...

by Finlay, Malcolm C, Ahmed, Akbar K, Sugrue, Alan, Bhar-Amato, Justine, Quarta, Giovanni, Pantazis, Antonis, Ciaccio, Edward J, Syrris, Petros, Sen-Chowdhry, Srijita, Ben-Simon, Ron, Chow, Anthony W, Lowe, Martin D, Segal, Oliver R, McKenna, William J, Lambiase, Pier D
Published in PloS one

Clinical and genetic characterization of families with arrhythmogenic right ventricular dysplasia/cardiomyopathy provides novel insights into patterns of disease expression

by SEN-CHOWDHRY, Srijita, SYRRIS, Petros, WARD, Deirdre, ASIMAKI, Angeliki, SEVDALIS, Elias, MCKENNA, William J
Published in Circulation (New York, N.Y.)

Left-dominant arrhythmogenic cardiomyopathy: an under-recognized clinical entity

by Sen-Chowdhry, Srijita, Syrris, Petros, Prasad, Sanjay K, Hughes, Siân E, Merrifield, Robert, Ward, Deirdre, Pennell, Dudley J, McKenna, William J
Published in Journal of the American College of Cardiology

Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy Associated with Mutations in the Desmosomal Gene Desmocollin-2

by Syrris, Petros, Ward, Deirdre, Evans, Alison, Asimaki, Angeliki, Gandjbakhch, Estelle, Sen-Chowdhry, Srijita, McKenna, William J.
Published in American journal of human genetics

Dilated Cardiomyopathy Due to BLC2-Associated Athanogene 3 (BAG3) Mutations

by Domínguez, Fernando, Cuenca, Sofía, Bilińska, Zofia, Toro, Rocío, Villard, Eric, Barriales-Villa, Roberto, Ochoa, Juan Pablo, Asselbergs, Folkert, Sammani, Arjan, Franaszczyk, Maria, Akhtar, Mohammed, Coronado-Albi, Maria José, Rangel-Sousa, Diego, Rodriguez-Palomares, Jose F., Jiménez-Jáimez, Juan, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomás, Mogollón-Jiménez, Maria Victoria, Fontalba-Romero, Ana, Garcia-Medina, Dolores, Palomino-Doza, Julian, de Gonzalo-Calvo, David, Cicerchia, Marcos, Salazar-Mendiguchia, Joel, Salas, Clara, Pankuweit, Sabine, Hey, Thomas Morris, Mogensen, Jens, Barton, Paul J., Charron, Philippe, Elliott, Perry, Garcia-Pavia, Pablo, Eiskjær, Hans, Barriales, Roberto, Fernández Fernández, Xusto, Cicerchia, Marcos, Monserrat, Lorenzo, Ochoa, Juan Pablo, Salazar-Mendiguchia, Joel, Mogollón, Maria Victoria, Ripoll, Tomás, Charron, Philippe, Richard, Pascale, Villard, Eric, Palomino Doza, Julian, Fontalba, Ana, Alonso-Pulpón, Luis, Cobo-Marcos, Marta, Domínguez, Fernando, Garcia-Pavia, Pablo, Gómez-Bueno, Manuel, González-López, Esther, Hernández-Hernández, Aitor, Hernández-Pérez, Francisco José, López-Sainz, Ángela, Restrepo-Córdoba, Alejandra, Segovia-Cubero, Javier, Toro, Rocio, de Gonzalo-Calvo, David, Rosa Longobardo, Félix, Limeres, Javier, Rodriguez-Palomares, Jose F., Garcia-Pinilla, Jose Manuel, López-Garrido, Miguel A., Jiménez-Jaimez, Juan, Garcia-Medina, Dolores, Rangel Sousa, Diego, Peña, Maria Luisa, Mogensen, Jens, Morris-Hey, Thomas, Barton, Paul J., Cook, Stuart A., Midwinter, William, Roberts, Angharad M., Ware, James S., Walsh, Roddy, Akhtar, Mohammed, Elliott, Perry M., Rocha-Lopes, Luis, Savvatis, Konstantinos, Syrris, Petros, Michalak, Ewa, Ploski, Rafal, Sobieszczanska-Malek, Malgorzata, Bilińska, Zofia, Pankuweit, Sabine, Asselbergs, Folkert, Baas, Annette, Dooijes, Dennis, Sammani, Arjan
Published in Journal of the American College of Cardiology

Heart failure in patients with arrhythmogenic right ventricular cardiomyopathy: Genetic characteristics

by Vischer, Annina S., Castelletti, Silvia, Syrris, Petros, McKenna, William J., Pantazis, Antonios
Published in International journal of cardiology

Clinical Features and Natural History of PRKAG2 Variant Cardiac Glycogenosis

by Dominguez, Fernando, Lopes, Luis Rocha, Ochoa, Juan Pablo, Barriales-Villa, Roberto, Climent, Vicente, Linschoten, Marijke, Tiron, Coloma, Chiriatti, Chiara, Marques, Nuno, Rasmussen, Torsten B., Espinosa, María Ángeles, Cesar, Sergi, Field, Ella, Garcia-Pinilla, Jose M., Muir, Alison R., Roberts, Angharad M., Santas, Enrique, Zorio, Esther, Peña-Peña, Maria Luisa, Navarro, Marina, Fernandez, Adrian, Palomino-Doza, Julian, Azevedo, Olga, Lorenzini, Massimiliano, García-Álvarez, Maria I., Bento, Dina, Jensen, Morten K., Méndez, Irene, Pezzoli, Laura, Sarquella-Brugada, Georgia, Campuzano, Oscar, Gonzalez-Lopez, Esther, Kaski, Juan Pablo, Brugada, Ramon, Monserrat, Lorenzo, Olivotto, Iacopo, Elliott, Perry M., Garcia-Pavia, Pablo, Rasmussen, Torsten B., Jensen, Morten K., Larrañaga-Moreira, Jose María, Alonso-García, Diego, Cárdenas-Reyes, Ivonne Johana, Cicerchia, Marcos, García-Ferro, German, García-Hernández, Soledad, Monserrat, Lorenzo, Nöel-Bröger, María, Ochoa, Juan Pablo, Ortiz, Martin, Bento, Dina, Mota, Teresa, Fernandes, Raquel, Costa, Hugo, Marques, Nuno, Climent, Vicente, García-Álvarez, Maria I., Cesar, Sergi, Sarquella-Brugada, Georgia, Muir, Alison R., Pezzoli, Laura, Quarta, Giovanni, Fernandez, Adrian, Field, Ella, Azevedo, Olga, Santas, Enrique, Chiriatti, Chiara, Brugada, Ramon, Campuzano, Oscar, Doza, Julian Palomino, Salguero-Bodes, Rafael, Valverde-Gomez, Maria, Espinosa, Maria Angeles, Mendez, Irene, Cobo-Marcos, Marta, Domínguez, Fernando, Garcia-Pavia, Pablo, González-López, Esther, Segovia-Cubero, Javier, Vilches, Silvia, Garcia-Pinilla, Jose Manuel, López-Garrido, Miguel, Abad, Victoria Doncel, Navarro, Marina, Sabater-Molina, Maria, Gimeno-Blanes, Juan Ramón, Peña-Peña, Maria Luisa, Mogensen, Jens, Barton, Paul J., Cook, Stuart A., Roberts, Angharad M., Ware, James S., Lopes, Luis Rocha, Lorenzini, Massimiliano, Syrris, Petros, Truszkowska, Grażyna, Michalak, Ewa, Asselbergs, Folkert, Baas, Annette F., Dooijes, Dennis
Published in Journal of the American College of Cardiology

Prevalence of Sarcomere Protein Gene Mutations in Preadolescent Children With Hypertrophic Cardiomyopathy

by Kaski, Juan Pablo, Syrris, Petros, Esteban, Maria Teresa Tome, Jenkins, Sharon, Pantazis, Antonios, Deanfield, John E, McKenna, William J, Elliott, Perry M
Published in Genetics (Austin)

Arrhythmic risk assessment in genotyped families with arrhythmogenic right ventricular cardiomyopathy

by Protonotarios, Alexandros, Anastasakis, Aris, Panagiotakos, Demosthenes B, Antoniades, Loizos, Syrris, Petros, Vouliotis, Apostolos, Stefanadis, Christodoulos, Tsatsopoulou, Adalena, McKenna, William J, Protonotarios, Nikos
Published in Europace (London, England)

Emery–Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure

by Cannie, Douglas E, Syrris, Petros, Protonotarios, Alexandros, Bakalakos, Athanasios, Pruny, Jean-François, Ditaranto, Raffaello, Martinez-Veira, Cristina, Larrañaga-Moreira, Jose M, Medo, Kristen, Bermúdez-Jiménez, Francisco José, Ben Yaou, Rabah, Leturcq, France, Mezcua, Ainhoa Robles, Marini-Bettolo, Chiara, Cabrera, Eva, Reuter, Chloe, Limeres Freire, Javier, Rodríguez-Palomares, José F, Mestroni, Luisa, Taylor, Matthew R G, Parikh, Victoria N, Ashley, Euan A, Barriales-Villa, Roberto, Jiménez-Jáimez, Juan, Garcia-Pavia, Pablo, Charron, Philippe, Biagini, Elena, García Pinilla, José M, Bourke, John, Savvatis, Konstantinos, Wahbi, Karim, Elliott, Perry M
Published in European heart journal

Cardiovascular magnetic resonance in arrhythmogenic right ventricular cardiomyopathy revisited : Comparison with task force criteria and genotype

by SEN-CHOWDHRY, Srijita, PRASAD, Sanjay K, SYRRIS, Petros, WAGE, Ricardo, WARD, Deirdre, MERRIFIELD, Robert, SMITH, Gillian C, FIRMIN, David N, PENNELL, Dudley J, MCKENNA, William J
Published in Journal of the American College of Cardiology

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

by 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
Published in Europace (London, England)

Adenosine monophosphate-activated protein kinase disease mimicks hypertrophic cardiomyopathy and Wolff-Parkinson-White syndrome natural history

by MURPHY, Ross T, MOGENSEN, Jens, HANNA, Michael G, HUGHES, Sian, ELLIOTT, Perry M, MACRAE, Calum A, MCKENNA, William J, MCGARRY, Kate, BAHL, Ajay, EVANS, Alison, OSMAN, Eyman, SYRRIS, Petros, GORMAN, Grainne, FARRELL, Michael, HOLTON, Janice L
Published in Journal of the American College of Cardiology

A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350)

by Heathcote, Kirsten, Syrris, Petros, Carter, Nicholas D, Patton, Michael A
Published in Journal of medical genetics

Human piebaldism: six novel mutations of the proto-oncogene KIT

by Syrris, Petros, Heathcote, Kirsten, Carrozzo, Romeo, Devriendt, Koen, Elçioglu, Nursel, Garrett, Christine, McEntagart, Meriel, Carter, Nicholas D.
Published in Human mutation