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Automated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome O'neill, Matthew J.; Ma, Joanne G.; Aldridge, Jessa L.; Solus, Joseph F.; Harvey, Genevieve R.; Roberson, Paige H.; Barc, Julien; Bezzina, Connie R.; Roden, Dan M.; Walsh, Roddy; Vandenberg, Jamie, I; Glazer, Andrew M.; Ng, Chai-Ann Share Save
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Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience (NOV, 10.1038/s41588-024-01975-5, 2024) Jurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Juarez, Christian Krijger; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R. Share Save
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Genome-wide association study reveals mechanisms underlying dilated cardiomyopathy and myocardial resilience Jurgens, Sean J.; Raemoe, Joel T.; Kramarenko, Daria R.; Wijdeveld, Leonoor F. J. M.; Haas, Jan; Chaffin, Mark D.; Garnier, Sophie; Gaziano, Liam; Weng, Lu-Chen; Lipov, Alex; Zheng, Sean L.; Henry, Albert; Huffman, Jennifer E.; Challa, Saketh; Ruehle, Frank; Verdugo, Carmen Diaz; Krijger Juarez, Christian; Kany, Shinwan; van Orsouw, Constance A.; Biddinger, Kiran; Poel, Edwin; Elliott, Amanda L.; Wang, Xin; Francis, Catherine; Ruan, Richard; Koyama, Satoshi; Beekman, Leander; Zimmerman, Dominic S.; Deleuze, Jean-Francois; Villard, Eric; Tregouet, David-Alexandre; Isnard, Richard; Boomsma, Dorret I.; de Geus, Eco J. C.; Tadros, Rafik; Pinto, Yigal M.; Wilde, Arthur A. M.; Hottenga, Jouke-Jan; Sinisalo, Juha; Niiranen, Teemu; Walsh, Roddy; Schmidt, Amand F.; Choi, Seung Hoan; Chang, Kyong-Mi; Tsao, Philip S.; Matthews, Paul M.; Ware, James S.; Lumbers, R. Thomas; van der Crabben, Saskia; Laukkanen, Jari; Palotie, Aarno; Amin, Ahmad S.; Charron, Philippe; Meder, Benjamin; Ellinor, Patrick T.; Daly, Mark; Aragam, Krishna G.; Bezzina, Connie R. Share Save
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Rare coding variant analysis for human diseases across biobanks and ancestries Jurgens, Sean J.; Wang, Xin; Choi, Seung Hoan; Weng, Lu-Chen; Koyama, Satoshi; Pirruccello, James P.; Nguyen, Trang; Smadbeck, Patrick; Jang, Dongkeun; Chaffin, Mark; Walsh, Roddy; Roselli, Carolina; Elliott, Amanda L.; Wijdeveld, Leonoor F. J. M.; Biddinger, Kiran J.; Kany, Shinwan; Ramo, Joel T.; Natarajan, Pradeep; Aragam, Krishna G.; Flannick, Jason; Burtt, Noel P.; Bezzina, Connie R.; Lubitz, Steven A.; Lunetta, Kathryn L.; Ellinor, Patrick T. Share Save
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Beyond gene-disease validity: capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions Josephs, Katherine S.; Roberts, Angharad M.; Theotokis, Pantazis; Walsh, Roddy; Ostrowski, Philip J.; Edwards, Matthew; Fleming, Andrew; Thaxton, Courtney; Roberts, Jason D.; Care, Melanie; Zareba, Wojciech; Adler, Arnon; Sturm, Amy C.; Tadros, Rafik; Novelli, Valeria; Owens, Emma; Bronicki, Lucas; Jarinova, Olga; Callewaert, Bert; Peters, Stacey; Lumbers, Tom; Jordan, Elizabeth; Asatryan, Babken; Krishnan, Neesha; Hershberger, Ray E.; Chahal, C. Anwar A.; Landstrom, Andrew P.; James, Cynthia; Mcnally, Elizabeth M.; Judge, Daniel P.; van Tintelen, Peter; Wilde, Arthur; Gollob, Michael; Ingles, Jodie; Ware, James S. Share Save
Exploring the complex spectrum of dominance and recessiveness in genetic cardiomyopathies Lipov, Alex; Jurgens, Sean J.; Mazzarotto, Francesco; Allouba, Mona; Pirruccello, James P.; Aguib, Yasmine; Gennarelli, Massimo; Yacoub, Magdi H.; Ellinor, Patrick T.; Bezzina, Connie R.; Walsh, Roddy Share Save
Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy Allouba, Mona; Walsh, Roddy; Afify, Alaa; Hosny, Mohammed; Halawa, Sarah; Galal, Aya; Fathy, Mariam; Theotokis, Pantazis, I; Boraey, Ahmed; Ellithy, Amany; Buchan, Rachel; Govind, Risha; Whiffin, Nicola; Anwer, Shehab; ElGuindy, Ahmed; Ware, James S.; Barton, Paul J. R.; Yacoub, Magdi; Aguib, Yasmine Share Save
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility (Apr, 10.1038/s41588-021-01007-6, 2022) Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y.; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J.; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A.; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O.; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D.; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuno, Cristina Gil; Lacunza, Javier; Giachino, Daniela F.; Cerrato, Natascia; Martins, Raphael P.; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurelie; Kyndt, Florence; Mazzanti, Andrea; Clementy, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noel, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K.; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P.; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B.; Boukens, Bas J.; Skoric-Milosavljevic, Doris; Bikker, Hennie; Manevy, Federico; Lichtner, Peter; Ribases, Marta; Meitinger, Thomas; Muller-Nurasyid, Martina; Strauch, Konstantin; Strauch, Konstantin; Peters, Annette; Schulz, Holger; Schwettmann, Lars; Leidl, Reiner; Heier, Margit; Veldink, Jan H.; van den Berg, Leonard H.; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stephanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Herve; Chatel, Stephanie; Karakachoff, Matilde; Bezieau, Stephane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E.; Cerrone, Marina; Chinitz, Larry A.; Volders, Paul G.; van de Berg, Maarten P.; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kaab, Stefan; Arnaout, Alain Al; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D.; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D.; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G.; Napolitano, Carlo; Defaye, Pascal; Defaye, Pascal; Anselme, Frederic; Darmon, Jean Philippe; Wiart, Francois; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R.; Hasdemir, Can; Schwartz, Peter J.; Crotti, Lia; McKeown, Pascal P.; Sharma, Sanjay; Behr, Elijah R.; Haissaguerre, Michel; Sacher, Frederic; Rooryck, Caroline; Tan, Hanno L.; Remme, Carol A.; Postema, Pieter G.; Delmar, Mario; Ellinor, Patrick T.; Lubitz, Steven A.; Gourraud, Jean-Baptiste; Tanck, Michael W.; George, Alfred L.; MacRae, Calum A.; Burridge, Paul W.; Dina, Christian; Probst, Vincent; Wilde, Arthur A.; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R. Share Save
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Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility Barc, Julien; Tadros, Rafik; Glinge, Charlotte; Chiang, David Y.; Jouni, Mariam; Simonet, Floriane; Jurgens, Sean J.; Baudic, Manon; Nicastro, Michele; Potet, Franck; Offerhaus, Joost A.; Walsh, Roddy; Choi, Seung Hoan; Verkerk, Arie O.; Mizusawa, Yuka; Anys, Soraya; Minois, Damien; Arnaud, Marine; Duchateau, Josselin; Wijeyeratne, Yanushi D.; Muir, Alison; Papadakis, Michael; Castelletti, Silvia; Torchio, Margherita; Ortuno, Cristina Gil; Lacunza, Javier; Giachino, Daniela F.; Cerrato, Natascia; Martins, Raphael P.; Campuzano, Oscar; Van Dooren, Sonia; Thollet, Aurelie; Kyndt, Florence; Mazzanti, Andrea; Clementy, Nicolas; Bisson, Arnaud; Corveleyn, Anniek; Stallmeyer, Birgit; Dittmann, Sven; Saenen, Johan; Noel, Antoine; Honarbakhsh, Shohreh; Rudic, Boris; Marzak, Halim; Rowe, Matthew K.; Federspiel, Claire; Le Page, Sophie; Placide, Leslie; Milhem, Antoine; Barajas-Martinez, Hector; Beckmann, Britt-Maria; Krapels, Ingrid P.; Steinfurt, Johannes; Winkel, Bo Gregers; Jabbari, Reza; Shoemaker, Moore B.; Boukens, Bas J.; Skoric-Milosavljevic, Doris; Bikker, Hennie; Manevy, Federico C.; Lichtner, Peter; Ribases, Marta; Meitinger, Thomas; Muller-Nurasyid, Martina; Veldink, Jan H.; van den Berg, Leonard H.; Van Damme, Philip; Cusi, Daniele; Lanzani, Chiara; Rigade, Sidwell; Charpentier, Eric; Baron, Estelle; Bonnaud, Stephanie; Lecointe, Simon; Donnart, Audrey; Le Marec, Herve; Chatel, Stephanie; Karakachoff, Matilde; Bezieau, Stephane; London, Barry; Tfelt-Hansen, Jacob; Roden, Dan; Odening, Katja E.; Cerrone, Marina; Chinitz, Larry A.; Volders, Paul G.; van de Berg, Maarten P.; Laurent, Gabriel; Faivre, Laurence; Antzelevitch, Charles; Kaab, Stefan; Al Arnaout, Alain; Dupuis, Jean-Marc; Pasquie, Jean-Luc; Billon, Olivier; Roberts, Jason D.; Jesel, Laurence; Borggrefe, Martin; Lambiase, Pier D.; Mansourati, Jacques; Loeys, Bart; Leenhardt, Antoine; Guicheney, Pascale; Maury, Philippe; Schulze-Bahr, Eric; Robyns, Tomas; Breckpot, Jeroen; Babuty, Dominique; Priori, Silvia G.; Napolitano, Carlo; de Asmundis, Carlo; Brugada, Pedro; Brugada, Ramon; Arbelo, Elena; Brugada, Josep; Mabo, Philippe; Behar, Nathalie; Giustetto, Carla; Molina, Maria Sabater; Gimeno, Juan R.; Hasdemir, Can; Schwartz, Peter J.; Crotti, Lia; McKeown, Pascal P.; Sharma, Sanjay; Behr, Elijah R.; Haissaguerre, Michel; Sacher, Frederic; Rooryck, Caroline; Tan, Hanno L.; Remme, Carol A.; Postema, Pieter G.; Delmar, Mario; Ellinor, Patrick T.; Lubitz, Steven A.; Gourraud, Jean-Baptiste; Tanck, Michael W.; George, Alfred L., Jr.; MacRae, Calum A.; Burridge, Paul W.; Dina, Christian; Probst, Vincent; Wilde, Arthur A.; Schott, Jean-Jacques; Redon, Richard; Bezzina, Connie R. Share Save
Targeted therapies in genetic dilated and hypertrophic cardiomyopathies: from molecular mechanisms to therapeutic targets. A position paper from the Heart Failure Association (HFA) and the Working Group on Myocardial Function of the European Society of Cardiology (ESC) de Boer, Rudolf A.; Heymans, Stephane; Backs, Johannes; Carrier, Lucie; Coats, Andrew J. S.; Dimmeler, Stefanie; Eschenhagen, Thomas; Filippatos, Gerasimos; Gepstein, Lior; Hulot, Jean-Sebastien; Knoll, Ralph; Kupatt, Christian; Linke, Wolfgang A.; Seidman, Christine E.; Tocchetti, C. Gabriele; van der Velden, Jolanda; Walsh, Roddy; Seferovic, Petar M.; Thum, Thomas Share Save
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Jun, 10.1038/ s41436-021-01212-y, 2021) Skoric-Milosavljevic, Doris; Lahrouchi, Najim; Bosada, Fernanda M.; Dombrowsky, Gregor; Williams, Simon G.; Lesurf, Robert; Tjong, Fleur V. Y.; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M.; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Hitz, Marc-Phillip; Hitz, Marc-Phillip; Abdul-Khaliq, Hashim; Berger, Felix; Dahnert, Ingo; Dittrich, Sven; Uebing, Anselm; Stiller, Brigitte; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A.; Mulder, Barbara J.; Mefford, Heather C.; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E.; Roberts, Amy; Lodder, Elisabeth M.; Keavney, Bernard D.; Clur, Sally-Ann B.; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M.; Postma, Alex V.; Bezzina, Connie R. Share Save
Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot Skoric-Milosavljevic, Doris; Lahrouchi, Najim; Bosada, Fernanda M.; Dombrowsky, Gregor; Williams, Simon G.; Lesurf, Robert; Tjong, Fleur V. Y.; Walsh, Roddy; El Bouchikhi, Ihssane; Breckpot, Jeroen; Audain, Enrique; Ilgun, Aho; Beekman, Leander; Ratbi, Ilham; Strong, Alanna; Muenke, Maximilian; Heide, Solveig; Muir, Alison M.; Hababa, Mariam; Cross, Laura; Zhou, Dihong; Pastinen, Tomi; Zackai, Elaine; Atmani, Samir; Ouldim, Karim; Adadi, Najlae; Steindl, Katharina; Rauch, Anita; Brook, David; Wilsdon, Anna; Kuipers, Irene; Blom, Nico A.; Mulder, Barbara J.; Mefford, Heather C.; Keren, Boris; Joset, Pascal; Kruszka, Paul; Thiffault, Isabelle; Sheppard, Sarah E.; Roberts, Amy; Lodder, Elisabeth M.; Keavney, Bernard D.; Clur, Sally-Ann B.; Mital, Seema; Hitz, Marc-Philip; Christoffels, Vincent M.; Postma, Alex V.; Bezzina, Connie R. Share Save
Evaluation of gene validity for CPVT and short QT syndrome in sudden arrhythmic death Walsh, Roddy; Adler, Arnon; Amin, Ahmad S.; Abiusi, Emanuela; Care, Melanie; Bikker, Hennie; Amenta, Simona; Feilotter, Harriet; Nannenberg, Eline A.; Mazzarotto, Francesco; Trevisan, Valentina; Garcia, John; Hershberger, Ray E.; Perez, Marco, V; Sturm, Amy C.; Ware, James S.; Zareba, Wojciech; Novelli, Valeria; Wilde, Arthur A. M.; Gollob, Michael H. Share Save
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