Publications

Below are a selection of our publications, organised by the following themes:

Cardiomyopathy genetics - Brugada genetics - Variant interpretation - GWAS - ClinGen - Reviews - Editorials

For a complete list of publications, click on the links below:

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Cardiomyopathy genetics

Intermediate Effect Variants in HCM: Integration into Clinical Practice and Family Screening.

Roddy Walsh, P. García-Pavía, Juan Pablo Ochoa

Circulation, 2026

Redefining the Genetic Architecture of Hypertrophic Cardiomyopathy: Role of Intermediate-Effect Variants

S. García Hernández, L. de la Higuera Romero, A. Fernández, M. L. Peña-Peña, N. Mora-Ayestarán, M. T. Basurte-Elorz, J. Larrañaga-Moreira, I. C. Cárdenas Reyes, E. Villacorta, Maria Valverde-Gómez, A. Bautista-Pavés, Elena Veira Villanueva, M. Ortiz-Genga, Alex Lipov, Noël Brögger, M. Sabater Molina, E. Moreno-Escobar, Luis Ruiz-Guerrero, P. Syrris, X. Fernández, J. Piqueras-Flores, A. Amor Salamanca, C. Bezzina, P. Elliott, R. Barriales-Villa, J. Gimeno-Blanes, P. García-Pavía, Roddy Walsh, Juan Pablo Ochoa

Circulation, 2025

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy

M. Allouba, R. Walsh, A. Afify, M. Hosny, S. Halawa, A. Galal, Mariam Fathy, P. Theotokis, A. Boraey, A. Ellithy, R. Buchan, Risha Govind, N. Whiffin, S. Anwer, A. Elguindy, J. Ware, P. Barton, Magdi H. Yacoub, Yasmine Aguib

European Heart Journal, 2023

Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies

Alex Lipov, S. Jurgens, F. Mazzarotto, M. Allouba, J. Pirruccello, Yasmine Aguib, Massimo Gennarelli, Magdi H. Yacoub, P. Ellinor, C. Bezzina, R. Walsh

Nature Cardiovascular Research, 2023

New Variant With a Previously Unrecognized Mechanism of Pathogenicity in Hypertrophic Cardiomyopathy

Yasmine Aguib, M. Allouba, R. Walsh, A. M. Ibrahim, S. Halawa, A. Afify, M. Hosny, P. Theotokis, A. Galal, Sara Elshorbagy, Mohamed Roshdy, H. Kassem, A. Ellithy, R. Buchan, N. Whiffin, S. Anwer, S. Cook, Ahmed Moustafa, A. Elguindy, J. Ware, P. Barton, M. Yacoub

Circulation, 2021

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

F. Mazzarotto, Megan H Hawley, M. Beltrami, L. Beekman, A. de Marvao, K. McGurk, B. Statton, B. Boschi, F. Girolami, Angharad M. Roberts, E. Lodder, M. Allouba, S. Romeih, Yasmine Aguib, A. Baksi, A. Pantazis, S. Prasad, E. Cerbai, M. Yacoub, D. O’Regan, S. Cook, J. Ware, B. Funke, I. Olivotto, C. Bezzina, P. Barton, R. Walsh

Genetics in Medicine, 2021

Genetic Studies of Hypertrophic Cardiomyopathy in Singaporeans Identify Variants in TNNI3 and TNNT2 That Are Common in Chinese Patients

C. Pua, Nevin Tham, C. Chin, R. Walsh, C. Khor, Christopher N Toepfer, Giuliana G. Repetti, Amanda C Garfinkel, Jourdan F Ewoldt, Paige E. Cloonan, Christopher S. Chen, Shiqi Lim, Jiashen Cai, L. Loo, S. Kong, Charleston W. K. Chiang, N. Whiffin, A. de Marvao, P. Lio, A. Hii, Chengxi Yang, T. Le, Yasmin Bylstra, W. K. Lim, J. X. Teo, Kallyandra Padilha, G. Venturini, B. Pan, Risha Govind, R. Buchan, P. Barton, P. Tan, Roger Foo, J. Yip, R. Wong, W. Chan, A. Pereira, H. Tang, S. Jamuar, J. Ware, J. Seidman, C. Seidman, S. Cook

Circulation Genomic and Precision Medicine, 2020

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy

F. Mazzarotto, U. Tayal, R. Buchan, W. Midwinter, Alicja E Wilk, N. Whiffin, Risha Govind, Erica Mazaika, A. de Marvao, T. Dawes, L. Felkin, Mian Ahmad, P. Theotokis, Elizabeth C. Edwards, Alexander Y. Ing, K. Thomson, L. Chan, D. Sim, A. Baksi, A. Pantazis, Angharad M. Roberts, H. Watkins, B. Funke, D. O’Regan, I. Olivotto, Paul J. R. Barton, S. Prasad, S. Cook, J. Ware, R. Walsh

Circulation, 2020

Defining the genetic architecture of hypertrophic cardiomyopathy: re-evaluating the role of non-sarcomeric genes

R. Walsh, R. Buchan, Alicja E Wilk, S. John, L. Felkin, K. Thomson, T. H. Chiaw, Calvin Chin Woon Loong, C. Pua, C. Raphael, S. Prasad, P. Barton, B. Funke, H. Watkins, J. Ware, S. Cook

European Heart Journal, 2017

Reassessment Of Mendelian Gene Pathogenicity Using 7,855 Cardiomyopathy Cases And 60,706 Reference Samples

R. Walsh, K. Thomson, J. Ware, B. Funke, Jessica Woodley, K. McGuire, F. Mazzarotto, E. Blair, A. Seller, Jenny C. Taylor, E. Minikel, D. MacArthur, M. Farrall, S. Cook, H. Watkins

Genetics in Medicine, 2016

Brugada genetics

Whole-genome sequencing implicates rare, low-frequency and structural non-coding variation at the SCN5A locus in Brugada syndrome

Alex Lipov, M. Baudic, P. Lindenbaum, I. Mengarelli, Matthew J Oneill, F. Bosada, Y. Wijeyeratne, L. de la Higuera Romero, M. Kooyman, Marion Gaudin, Graziella Aquilina, L. Beekman, E. Baron, Mathilde Bertrand, Z. Kingsbury, Mark Ross, M. Corver, Paola Lombardi, I. Krapels, P. Volders, R. Tadros, F. Tuijnenburg, K. van Duijvenboden, A. Al-Chalabi, J. Veldink, S. Jurgens, A. Thollet, Eric Charpentier, Camille Maiano, P. Mabo, A. Leenhardt, F. Sacher, A. Houweling, H. Tan, Vincent M. Christoffels, M. Tanck, Andrew Grace, K. Nademanee, A. Khongphatthanayothin, A. Glazer, J. Deleuze, Juan Pablo Ochoa, J. Montnach, M. De Waard, P. Postema, A. Amin, J. Gourraud, Pascale Guicheney, Dan M. Roden, Jean-Jacques Schott, Christian Dina, Vincent Probst, P. Lambiase, Elijah R. Behr, A. Wilde, R. Redon, Roddy Walsh, J. Barc, C. Bezzina

medRxiv, 2026

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand

Roddy Walsh, J. Mauleekoonphairoj, I. Mengarelli, F. Bosada, A. Verkerk, K. van Duijvenboden, Y. Poovorawan, W. Wongcharoen, B. Sutjaporn, P. Wandee, Nitinan Chimparlee, Ronpichai Chokesuwattanaskul, Kornkiat Vongpaisarnsin, Piyawan Dangkao, Cheng-I Wu, R. Tadros, A. Amin, K. Lieve, P. Postema, M. Kooyman, L. Beekman, Dujdao Sahasatas, Montawatt Amnueypol, R. Krittayaphong, S. Prechawat, Alisara Anannab, P. Makarawate, T. Ngarmukos, Keerapa Phusanti, G. Veerakul, Z. Kingsbury, T. Newington, U. Maheswari, Mark Ross, Andrew Grace, P. Lambiase, Elijah R. Behr, J. Schott, R. Redon, J. Barc, Vincent M. Christoffels, A. Wilde, K. Nademanee, C. Bezzina, A. Khongphatthanayothin

Circulation, vol. 7(151), 2025, pp. 31-44

Automated patch clamp data improve variant classification and penetrance stratification for SCN5A–Brugada syndrome

M. O’Neill, Joanne G. Ma, Jessa L Aldridge, J. Solus, Genevieve R. Harvey, Paige H. Roberson, J. Barc, C. Bezzina, Dan M. Roden, Roddy Walsh, Jamie I. Vandenberg, A. Glazer, Chai-Ann Ng

European Heart Journal, 2025

Common and rare susceptibility genetic variants predisposing to Brugada Syndrome in Thailand.

P. Makarawate, C. Glinge, A. Khongphatthanayothin, R. Walsh, J. Mauleekoonphairoj, Montawatt Amnueypol, S. Prechawat, W. Wongcharoen, R. Krittayaphong, Alisara Anannab, P. Lichtner, T. Meitinger, F. Tjong, K. Lieve, A. Amin, Dujdao Sahasatas, T. Ngarmukos, D. Wichadakul, S. Payungporn, B. Sutjaporn, P. Wandee, Y. Poovorawan, J. Tfelt‐Hansen, M. Tanck, R. Tadros, A. Wilde, C. Bezzina, G. Veerakul, K. Nademanee

Heart Rhythm, 2020

Variant interpretation

Enhancing rare variant interpretation in inherited arrhythmias through quantitative analysis of consortium disease cohorts and population controls

R. Walsh, N. Lahrouchi, R. Tadros, F. Kyndt, C. Glinge, P. Postema, A. Amin, E. Nannenberg, J. Ware, N. Whiffin, F. Mazzarotto, Doris Škorić-Milosavljević, C. Krijger, E. Arbelo, D. Babuty, H. Barajas-Martinez, B. Beckmann, S. Bézieau, J. Bos, J. Breckpot, Ó. Campuzano, S. Castelletti, Candan Celen, S. Clauss, A. Corveleyn, L. Crotti, F. Dagradi, C. de Asmundis, I. Denjoy, S. Dittmann, P. Ellinor, Cristina Gil Ortuño, C. Giustetto, J. Gourraud, Daisuke Hazeki, M. Horie, T. Ishikawa, H. Itoh, Y. Kaneko, J. Kanters, Hiroki Kimoto, M. Kotta, I. Krapels, M. Kurabayashi, J. Lazarte, A. Leenhardt, B. Loeys, C. Lundin, T. Makiyama, J. Mansourati, Raphael P. Martins, A. Mazzanti, S. Mörner, C. Napolitano, Kimie Ohkubo, M. Papadakis, B. Rudic, M. S. Molina, F. Sacher, H. Şahin, G. Sarquella-Brugada, R. Sebastiano, Sanjay Sharma, M. Sheppard, K. Shimamoto, M. Shoemaker, B. Stallmeyer, J. Steinfurt, Yuji Tanaka, D. Tester, K. Usuda, P. A. van der Zwaag, S. Van Dooren, L. Van Laer, A. Winbo, B. Winkel, K. Yamagata, S. Zumhagen, P. Volders, S. Lubitz, C. Antzelevitch, P. Platonov, K. Odening, D. Roden, Jason D. Roberts, J. Skinner, J. Tfelt‐Hansen, M. P. van den Berg, M. Olesen, P. Lambiase, M. Borggrefe, Kenshi Hayashi, A. Rydberg, T. Nakajima, M. Yoshinaga, J. Saenen, S. Kääb, P. Brugada, T. Robyns, D. Giachino, M. Ackerman, R. Brugada, J. Brugada, J. Gimeno, C. Hasdemir, P. Guicheney, S. Priori, E. Schulze-Bahr, N. Makita, P. Schwartz, W. Shimizu, T. Aiba, J. Schott, R. Redon, S. Ohno, V. Probst, Alain Al Mathieu Frédéric Olivier Pascal Jean-Marc Laure Arnaout Amelot Anselme Billon Defaye Dupuis Jesel, A. A. Arnaout, Mathieu Amelot, F. Anselme, O. Billon, P. Defaye, Jean Dupuis, L. Jesel, G. Laurent, P. Maury, J. Pasquié, F. Wiart, E. Behr, J. Barc, C. Bezzina

Genetics in Medicine, 2020

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy

R. Walsh, F. Mazzarotto, N. Whiffin, R. Buchan, W. Midwinter, Alicja E Wilk, Nicholas Li, L. Felkin, N. Ingold, Risha Govind, Mian Ahmad, Erica Mazaika, M. Allouba, Xiaolei Zhang, A. de Marvao, S. Day, E. Ashley, S. Colan, M. Michels, A. Pereira, D. Jacoby, Carolyn Y. Ho, K. Thomson, H. Watkins, P. Barton, I. Olivotto, S. Cook, J. Ware

Genome Medicine, 2018

Using high-resolution variant frequencies to empower clinical genome interpretation

N. Whiffin, E. Minikel, R. Walsh, A. O’Donnell-Luria, K. Karczewski, Alexander Y. Ing, P. Barton, B. Funke, S. Cook, D. MacArthur, J. Ware

Genetics in Medicine, 2016

Paralogue annotation identifies novel pathogenic variants in patients with Brugada syndrome and catecholaminergic polymorphic ventricular tachycardia

R. Walsh, N. Peters, S. Cook, J. Ware

Journal of Medical Genetics, 2013

Paralogous annotation of disease-causing variants in Long QT syndrome genes

James S. Ware, R. Walsh, Fiona Cunningham, E. Birney, Stuart A. Cook

Human Mutation, 2012

GWAS

Evaluation of polygenic scores for hypertrophic cardiomyopathy in the general population and across clinical settings

Sean L. Zheng, S. Jurgens, K. McGurk, Xiao Xu, C. Grace, P. Theotokis, R. Buchan, C. Francis, A. de Marvao, Lara Curran, Wenjia Bai, C. Pua, H. Tang, P. Jordà, M. V. van Slegtenhorst, J. Verhagen, Andrew R. Harper, Elizabeth Ormondroyd, Calvin W L Chin, Antonio Marjon A. James S. de Marvao van Slegtenhorst Ware, A. de Marvao, James S. Ware, A. Pantazis, J. Baksi, B. Halliday, P. Matthews, Y. Pinto, Roddy Walsh, A. Amin, A. Wilde, Stuart A. Cook, Sanjay K. Prasad, Paul J. R. Barton, D. O’Regan, R. Lumbers, A. Goel, R. Tadros, M. Michels, Hugh Watkins, C. Bezzina, James S. Ware

Nature Genetics, 2025

Large-scale genome-wide association analyses identify novel genetic loci and mechanisms in hypertrophic cardiomyopathy

R. Tadros, Sean L. Zheng, C. Grace, P. Jordà, C. Francis, Dominique M West, S. Jurgens, K. Thomson, Andrew R. Harper, Elizabeth Ormondroyd, Xiao Xu, P. Theotokis, R. Buchan, K. McGurk, F. Mazzarotto, B. Boschi, E. Pelo, Michael Lee, M. Noseda, A. Varnava, A. Vermeer, Roddy Walsh, A. Amin, M. V. van Slegtenhorst, N. Roslin, L. Strug, Erika Salvi, C. Lanzani, A. de Marvao, Daniele Paolo Lorena Nicola Cusi Manunta Citterio Glorioso, D. Cusi, P. Manunta, L. Citterio, Nicola Glorioso, Jason D. Roberts, M. Tremblay‐Gravel, G. Giraldeau, J. Cadrin-Tourigny, P. L’allier, P. Garceau, M. Talajic, S. G. Gagliano Taliun, Y. Pinto, Harry Rakowski, A. Pantazis, Wenjia Bai, J. Baksi, B. Halliday, Sanjay K. Prasad, Paul J. R. Barton, D. O’Regan, Stuart A. Cook, Rudolf A. de Boer, I. Christiaans, M. Michels, Christopher M. Kramer, C. Ho, S. Neubauer, Theodore Lisa Florian Evan Camillo Lauren Colin Elena Willi Abraham Anderson Andre Appelbaum Autore Baldassarr, T. Abraham, Lisa Anderson, F. André, E. Appelbaum, C. Autore, Lauren Baldassarre, Colin Berry, E. Biagini, William Bradlow, Chiara Bucciarelli-Ducci, A. Chiribiri, L. Choudhury, Andrew Crean, Dana Dawson, M. Desai, P. Desvigne-Nickens, J. DiMarco, E. Elstein, Andrew S. Flett, Matthias Friedrich, Eli V. Gelfand, Nancy Geller, T. Germans, J. Geske, A. Hays, S. Heitner, A. Helms, Daniel L. Jacoby, Dong-Yun Kim, Bette Kim, Han Kim, P. Kolm, R. Kwong, Eric Larose, C. Madias, M. Mahmod, H. Mahrholdt, M. Maron, A. Masri, G. McCann, S. Mohiddin, F. Mongeon, S. Nagueh, D. Newby, A. Nightingale, Anjali Owens, S. Plein, B. Raman, O. Rimoldi, Michael Salerno, Jeanette Schulz-Menger, Sanjay Sharma, M. Sherrid, A. V. van Rossum, Jonathan W. Weinsaft, W. Weintraub, J. White, Eric Williamson, Anna Woo, P. Matthews, A. Wilde, J. Tardif, I. Olivotto, Arnon Adler, A. Goel, James S. Ware, C. Bezzina, Hugh Watkins

Nature Genetics, 2025

Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience

S. Jurgens, Joel T. Rämö, D. Kramarenko, L. Wijdeveld, J. Haas, M. Chaffin, S. Garnier, L. Gaziano, L. Weng, Alex Lipov, Sean L. Zheng, Albert Henry, J. Huffman, Saketh Challa, Frank Rühle, Carmen Diaz Verdugo, C. Krijger Juárez, S. Kany, C. A. van Orsouw, K. Biddinger, E. Poel, Amanda L. Elliott, Xin Wang, C. Francis, Richard Ruan, S. Koyama, L. Beekman, Dominic S Zimmerman, J. Deleuze, E. Villard, D. Trégouët, R. Isnard, Joel T. Amanda L. Juha Teemu Jari Aarno Mark Rämö Elliott Sinisalo Niiranen Laukkanen Palotie D, J. Sinisalo, T. Niiranen, J. Laukkanen, A. Palotie, Mark Daly, Jennifer E. Kyong-Mi Philip S. Krishna G. Huffman Chang Tsao Aragam, Kyong-Mi Chang, Phil Tsao, Krishna G. Aragam, Sean L. Albert Kiran James S. R. Thomas Patrick T. Kris Zheng Henry Biddinger Ware Lumbers Ellinor Aragam, James S. Ware, R. Lumbers, P. Ellinor, D. Boomsma, E. D. de Geus, R. Tadros, Y. Pinto, A. Wilde, J. Hottenga, Roddy Walsh, A. F. Schmidt, Seung Hoan Choi, P. Matthews, S. N. van der Crabben, A. Amin, P. Charron, B. Meder, C. Bezzina

Nature Genetics, 2024

Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility

J. Barc, R. Tadros, C. Glinge, David Y. Chiang, Mariam Jouni, F. Simonet, S. Jurgens, M. Baudic, Michele Nicastro, F. Potet, J. Offerhaus, R. Walsh, S. Choi, A. Verkerk, Y. Mizusawa, S. Anys, Damien Minois, M. Arnaud, J. Duchâteau, Y. Wijeyeratne, A. Muir, M. Papadakis, S. Castelletti, M. Torchio, Cristina Gil Ortuño, J. Lacunza, D. Giachino, N. Cerrato, Raphael P. Martins, Ó. Campuzano, S. Van Dooren, A. Thollet, F. Kyndt, A. Mazzanti, N. Clementy, A. Bisson, A. Corveleyn, B. Stallmeyer, S. Dittmann, J. Saenen, Antoine Noël, Shohreh Honarbakhsh, B. Rudic, H. Marzak, M. Rowe, C. Federspiel, S. Le Page, L. Placide, A. Milhem, H. Barajas-Martinez, B. Beckmann, I. Krapels, J. Steinfurt, B. Winkel, R. Jabbari, M. Shoemaker, B. Boukens, Doris Škorić-Milosavljević, H. Bikker, Federico Manevy, P. Lichtner, M. Ribasés, T. Meitinger, M. Müller-Nurasyid, Konstantin Annette Holger Lars Reiner Margit Strauch Peters Schulz Schwettmann Leidl Heier, K. Strauch, Annette Peters, H. Schulz, L. Schwettmann, R. Leidl, M. Heier, J. Veldink, L. H. van den Berg, P. van Damme, D. Cusi, C. Lanzani, S. Rigade, Eric Charpentier, E. Baron, S. Bonnaud, S. Lecointe, Audrey Donnart, H. Le Marec, S. Chatel, Matilde Karakachoff, S. Bézieau, B. London, J. Tfelt‐Hansen, D. Roden, K. Odening, M. Cerrone, L. Chinitz, P. Volders, Maarten P. van de Berg, G. Laurent, L. Faivre, C. Antzelevitch, S. Kääb, A. A. Arnaout, J. Dupuis, J. Pasquié, O. Billon, Jason D. Roberts, L. Jesel, M. Borggrefe, P. Lambiase, J. Mansourati, B. Loeys, A. Leenhardt, P. Guicheney, P. Maury, E. Schulze-Bahr, T. Robyns, J. Breckpot, D. Babuty, S. Priori, C. Napolitano, Pascal Frédéric Jean Philippe François Defaye Anselme Darmon Wiart, P. Defaye, F. Anselme, J. Darmon, F. Wiart, C. de Asmundis, P. Brugada, R. Brugada, E. Arbelo, J. Brugada, P. Mabo, N. Béhar, C. Giustetto, M. S. Molina, J. Gimeno, C. Hasdemir, P. Schwartz, L. Crotti, P. McKeown, Sanjay Sharma, E. Behr, M. Haissaguerre, F. Sacher, C. Rooryck, H. Tan, C. Remme, P. Postema, M. Delmar, P. Ellinor, S. Lubitz, J. Gourraud, M. Tanck, Alfred L. George, C. Macrae, P. Burridge, C. Dina, V. Probst, A. Wilde, J. Schott, R. Redon, C. Bezzina

Nature Genetics, 2022

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect

R. Tadros, C. Francis, Xiao Xu, A. Vermeer, A. Harper, R. Huurman, Ken Kelu Bisabu, R. Walsh, E. Hoorntje, W. T. te Rijdt, R. Buchan, Hannah G. van Velzen, M. V. van Slegtenhorst, J. Vermeulen, J. Offerhaus, Wenjia Bai, A. de Marvao, N. Lahrouchi, L. Beekman, J. Karper, J. Veldink, E. Kayvanpour, A. Pantazis, A. Baksi, N. Whiffin, F. Mazzarotto, G. Sloane, Hideaki Suzuki, D. Schneider-Luftman, P. Elliott, P. Richard, F. Ader, E. Villard, P. Lichtner, T. Meitinger, M. Tanck, J. V. van Tintelen, A. Thain, D. Mccarty, R. Hegele, Jason D. Roberts, Julie Amyot, M. Dubé, J. Cadrin-Tourigny, G. Giraldeau, P. L’allier, P. Garceau, J. Tardif, S. Boekholdt, R. Lumbers, F. Asselbergs, P. Barton, S. Cook, S. Prasad, D. O’Regan, J. van der Velden, K. Verweij, M. Talajic, G. Lettre, Y. Pinto, B. Meder, P. Charron, R. D. de Boer, I. Christiaans, M. Michels, A. Wilde, H. Watkins, P. Matthews, J. Ware, C. Bezzina

Nature Genetics, 2021

Transethnic genome-wide association study provides insights in the genetic architecture and heritability of long QT syndrome Running title: Genome-wide association study in long QT syndrome

N. Lahrouchi, R. Tadros, L. Crotti, Y. Mizusawa, P. Postema, L. Beekman, R. Walsh, K. Hasegawa, J. Barc, Mark Ernsting, Kari L. Turkowski, Andrea Mazzanti, Britt M. Beckmann, K. Shimamoto, Ulla-Britt Diamant, D. Yanushi, Wijeyeratne, Yu Kucho, T. Robyns, T. Ishikawa, Elena, Arbelo, Michael Christiansen, A. Winbo, R. Jabbari, S. Lubitz, J. Steinfurt, B. Rudic, Bart Loeys, M., Ben B. Shoemaker, P. Weeke, R. Pfeiffer, MS BriannaDavies, Antoine, Andorin, N. Hofman, F. Dagradi, M. Pedrazzini, J. David, Tester, J. Bos, G. Sarquella-Brugada, Ó. Campuzano, P. Platonov, B. Stallmeyer, S. Zumhagen, A. Eline, Nannenberg, J. Veldink, L. H. Berg, -. AmmarAl, Chalabi, Christopher E. Shaw, Pamela J. Shaw, K. Morrison, P. M. Andersen, Martina Müller-Nurasyid, D. Cusi, Cristina, Barlassina, Pilar Galan, Mark Lathrop, M. Munter, T. Werge, M. Ribasés, Tin Aung, C. Khor, P. Lichtner, T. Meitinger, J. V. Tintelen, Yvonne, Hoedemaekers, I. Denjoy, A. Leenhardt, C. Napolitano, Wataru Shimizu, J. Schott, J. Gourraud, T. Makiyama, S. Ohno, H. Itoh, Andrew D. Krahn, Charles Antzelevitch, D. Roden, J. Saenen, Martin, Borggrefe, Katja E. Odening, P. Ellinor, J. Tfelt‐Hansen, Jonathan R. Skinner, M. P. V. D. Berg, M. Olesen, Josep, Brugada, R. Brugada, N. Makita, J. Breckpot, Masao Yoshinaga, E R Behr, A. Rydberg, T. Aiba, S. Kääb, S. Priori, P. Guicheney, L. Hanno, Tấn, Michael J. Ackerman, Peter J. Schwartz, E. Schulze-Bahr, Vincent Probst, Minoru Horie, A. Arthur, Wilde, M. Tanck, C. Bezzina

2020

ClinGen

An Updated Evidence Assessment of the Genetic Causes of Dilated Cardiomyopathy.

E. Jordan, Phoenix L. Grover, P. Parker, J. Cowan, B. Asatryan, Tomohiko Ai, Akos Berthold, L. Bronicki, Emily E. Brown, R. Celeghin, M. Edwards, Judith Fan, Cynthia A. James, Renee Johnson, Daniel P. Judge, S. Jurgens, N. Lahrouchi, T. Lumbers, F. Mazzarotto, A. Medeiros Domingo, B. Murray, Stacey Peters, K. Pilichou, A. Protonotarios, K. V. van Spaendonck-Zwarts, P. Syrris, Jessica J. Wang, Roddy Walsh, J. Ware, R. E. Hershberger

Circulation, 2026

ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel: Reappraisal of Genes associated with Hypertrophic Cardiomyopathy

S. Hespe, Amber Waddell, B. Asatryan, Emma H Owens, C. Thaxton, Mhy-Lanie Adduru, Kailyn Anderson, Emily E. Brown, L. Hoffman-Andrews, Elizabeth Jordan, Katherine Josephs, Megan Mayers, Stacey Peters, F. Stafford, R. Bagnall, L. Bronicki, B. Callewaert, C. Chahal, C. James, O. Jarinova, A. Landstrom, E. M. McNally, B. Murray, L. Muiño-Mosquera, Victoria N. Parikh, Chloe Reuter, R. Walsh, Bess Wayburn, J. Ware, Jodie Ingles

Journal of the American College of Cardiology, 2025

An Evidence-based Assessment of Genes in Dilated Cardiomyopathy

Elizabeth Jordan, Laiken Peterson, Tomohiko Ai, Babken Asatryan, Lucas Bronicki, Emily Brown, Rudy Celeghin, Matthew Edwards, Judy Fan, Jodie Ingles, Cynthia A. James, Olga Jarinova, Renee Johnson, Daniel P. Judge, Najim Lahrouchi, Ronald H. Lekanne Deprez, R. Thomas Lumbers, Francesco Mazzarotto, Argelia Medeiros, Rebecca L. Miller, Ana Morales, Brittney Murray, Stacey Peters, Kalliopi Pilichou, Alexandros Protonotarios, Christopher Semsarian, PalakShah, Petros Syrris, Courtney Thaxton, J. Peter van Tintelen, Roddy Walsh, Jessica Wang, James Ware, Ray E. Hershberger

Circulation, 2021

Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death

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