Clonal Hematopoiesis of Indeterminate Potential and Kidney Function Decline in the General Population
Kestenbaum, Bryan, Bick, Alexander G., Vlasschaert, Caitlyn, Rauh, Michael J., Lanktree, Matthew B., Franceschini, Nora, Shoemaker, Moore B., Harris, Raymond C., Psaty, Bruce M., Köttgen, Anna, Natarajan, Pradeep, Robinson-Cohen, Cassianne
Published in American journal of kidney diseases (01.03.2023)
Published in American journal of kidney diseases (01.03.2023)
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Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse
Roselli, Carolina, Yu, Mengyao, Nauffal, Victor, Georges, Adrien, Yang, Qiong, Love, Katie, Weng, Lu Chen, Delling, Francesca N, Maurya, Svetlana R, Schrölkamp, Maren, Tfelt-Hansen, Jacob, Hagège, Albert, Jeunemaitre, Xavier, Debette, Stéphanie, Amouyel, Philippe, Guan, Wyliena, Muehlschlegel, Jochen D, Body, Simon C, Shah, Svati, Samad, Zainab, Kyryachenko, Sergiy, Haynes, Carol, Rienstra, Michiel, Le Tourneau, Thierry, Probst, Vincent, Roussel, Ronan, Wijdh-Den Hamer, Inez J, Siland, Joylene E, Knowlton, Kirk U, Jacques Schott, Jean, Levine, Robert A, Benjamin, Emelia J, Vasan, Ramachandran S, Horne, Benjamin D, Muhlestein, Joseph B, Benfari, Giovanni, Enriquez-Sarano, Maurice, Natale, Andrea, Mohanty, Sanghamitra, Trivedi, Chintan, Shoemaker, Moore B, Yoneda, Zachary T, Wells, Quinn S, Baker, Michael T, Farber-Eger, Eric, Michelena, Hector I, Lundby, Alicia, Norris, Russell A, Slaugenhaupt, Susan A, Dina, Christian, Lubitz, Steven A, Bouatia-Naji, Nabila, Ellinor, Patrick T, Milan, David J
Published in European heart journal (01.05.2022)
Published in European heart journal (01.05.2022)
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Abnormal kinetics of contraction caused by an α-actinin 2 missense variant in the EF-3-4 hand domain in human myocardium
Rodriguez Garcia, Michelle C., Schmeckpeper, Jeffrey, Landim-Vieira, Maicon, Leite Coscarella, Isabella, Fang, Xuan, Ma, Weikang, Rahimi Kahmini, Aida, Wang, Lili, Shoemaker, Moore B., Atkinson, James B., Kekenes-Huskey, Peter, Irving, Thomas, Chase, Prescott B., Knollmann, Bjorn C., Pinto, J. Renato
Published in Biophysical journal (10.02.2023)
Published in Biophysical journal (10.02.2023)
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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
Tadros, Rafik, Chiang, David Y., Jouni, Mariam, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Castelletti, Silvia, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Steinfurt, Johannes, Jabbari, Reza, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Veldink, Jan H., van den Berg, Leonard H., Cusi, Daniele, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Bézieau, Stéphane, London, Barry, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Maury, Philippe, Schulze-Bahr, Eric, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Mabo, Philippe, Behar, Nathalie, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., George, Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A.
Published in Nature genetics (01.03.2022)
Published in Nature genetics (01.03.2022)
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.
Published in Nature communications (27.05.2020)
Published in Nature communications (27.05.2020)
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Role of cardiac alpha-actinin 2 pathogenic variant in human myocardium mechanics
Rodriguez Garcia, Michelle C., Landim-Vieira, Maicon, Schmeckpeper, Jeffrey, Wang, Lili, Shoemaker, Moore B., Chase, Prescott B., Knollmann, Bjorn C., Pinto, J. Renato
Published in Biophysical journal (11.02.2022)
Published in Biophysical journal (11.02.2022)
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A missense variant in the Z-disc protein α-actinin 2: Evidence for a sarcomere protein at the nexus of thick and thin filament regulation
Rodriguez Garcia, Michelle C., Schmeckpeper, Jeffrey, Landim-Vieira, Maicon, Coscarella, Isabella Leite, Fang, Xuan, Ma, Weikang, Spran, Payton A., Kahmini, Aida Rahimi, Shoemaker, Moore B., Atkinson, James B., Kekenes-Huskey, Peter, Irving, Thomas, Chase, Prescott B., Knollmann, Björn C., Pinto, J. Renato
Published in Biophysical journal (08.02.2024)
Published in Biophysical journal (08.02.2024)
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Inferring compound heterozygosity from large-scale exome sequencing data
Guo, Michael H., Francioli, Laurent C., Stenton, Sarah L., Goodrich, Julia K., Watts, Nicholas A., Singer-Berk, Moriel, Groopman, Emily, Darnowsky, Philip W., Solomonson, Matthew, Baxter, Samantha, Tiao, Grace, Neale, Benjamin M., Hirschhorn, Joel N., Rehm, Heidi L., Daly, Mark J., O’Donnell-Luria, Anne, Karczewski, Konrad J., MacArthur, Daniel G., Samocha, Kaitlin E.
Published in Nature genetics (01.01.2024)
Published in Nature genetics (01.01.2024)
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B-PO05-026 AGE-RELATED PREVALENCE OF RARE DISEASE-ASSOCIATED VARIANTS IN 1293 PATIENTS WITH EARLY-ONSET ATRIAL FIBRILLATION
Yoneda, Zachary, Anderson, Katherine C., Quintana, Joseph A., O'Neill, Matthew J., Glazer, Andrew M., Shaffer, Christian M., Crawford, Diane M., Stricker, Thomas, Wells, Quinn, Stevenson, Lynne W., Michaud, Gregory F., Darbar, Dawood, Lubitz, Steven A., Ellinor, Patrick T., Roden, Dan M., Shoemaker, Moore B.
Published in Heart rhythm (01.08.2021)
Published in Heart rhythm (01.08.2021)
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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, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F, Cerrato, Natascia, Martins, Raphaël P, Campuzano, Oscar, van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Clémenty, Nicolas, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Noël, 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, Škorić-Milosavljević, Doris, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Müller-Nurasyid, Martina, 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, Stéphanie, Lecointe, Simon, Donnart, Audrey, Le Marec, Hervé, Chatel, Stéphanie, Karakachoff, Matilde, Bézieau, Stéphane, 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, Kääb, Stefan, Arnaout, Alain Al, Dupuis, Jean-Marc, Pasquie, Jean-Luc
Published in Nature genetics (01.09.2022)
Published in Nature genetics (01.09.2022)
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Author Correction: Genome-wide association analyses identify new Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
Tadros, Rafik, Chiang, David Y., Jouni, Mariam, Potet, Franck, Offerhaus, Joost A., Walsh, Roddy, Choi, Seung Hoan, Mizusawa, Yuka, Anys, Soraya, Minois, Damien, Arnaud, Marine, Duchateau, Josselin, Castelletti, Silvia, Ortuño, Cristina Gil, Lacunza, Javier, Giachino, Daniela F., Cerrato, Natascia, Van Dooren, Sonia, Thollet, Aurélie, Kyndt, Florence, Mazzanti, Andrea, Bisson, Arnaud, Corveleyn, Anniek, Stallmeyer, Birgit, Dittmann, Sven, Saenen, Johan, Rowe, Matthew K., Federspiel, Claire, Le Page, Sophie, Placide, Leslie, Milhem, Antoine, Barajas-Martinez, Hector, Beckmann, Britt-Maria, Steinfurt, Johannes, Jabbari, Reza, Bikker, Hennie, Manevy, Federico, Lichtner, Peter, Ribasés, Marta, Meitinger, Thomas, Veldink, Jan H., van den Berg, Leonard H., Cusi, Daniele, Charpentier, Eric, Baron, Estelle, Bonnaud, Stéphanie, Lecointe, Simon, Donnart, Audrey, Bézieau, Stéphane, London, Barry, Roden, Dan, Odening, Katja E., Cerrone, Marina, Chinitz, Larry A., Volders, Paul G., van de Berg, Maarten P., Laurent, Gabriel, Faivre, Laurence, Antzelevitch, Charles, Dupuis, Jean-Marc, Pasquie, Jean-Luc, Billon, Olivier, Roberts, Jason D., Jesel, Laurence, Borggrefe, Martin, Lambiase, Pier D., Mansourati, Jacques, Loeys, Bart, Leenhardt, Antoine, Maury, Philippe, Schulze-Bahr, Eric, Breckpot, Jeroen, Babuty, Dominique, Priori, Silvia G., Napolitano, Carlo, de Asmundis, Carlo, Brugada, Pedro, Brugada, Ramon, Arbelo, Elena, Mabo, Philippe, Behar, Nathalie, Molina, Maria Sabater, Gimeno, Juan R., Hasdemir, Can, Schwartz, Peter J., Behr, Elijah R., Haissaguerre, Michel, Sacher, Frédéric, Rooryck, Caroline, Tan, Hanno L., Postema, Pieter G., Delmar, Mario, Ellinor, Patrick T., Lubitz, Steven A., George, Alfred L., MacRae, Calum A., Burridge, Paul W., Dina, Christian, Probst, Vincent, Wilde, Arthur A.
Published in Nature genetics (01.05.2022)
Published in Nature genetics (01.05.2022)
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Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes
Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.
Published in Nature communications (02.02.2021)
Published in Nature communications (02.02.2021)
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Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals
Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.
Published in Nature communications (02.02.2021)
Published in Nature communications (02.02.2021)
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Abstract 17956: External Validation of a Prediction Model for the Development of Atrial Fibrillation in a Repository of Electronic Medical Records
Kolek, Matthew J, Graves, Amy J, Bian, Aihua, Teixeira, Pedro L, Shoemaker, Moore B, Parvez, Babar, Xu, Hua, Heckbert, Susan R, Ellinor, Patrick T, Benjamin, Emelia J, Alonso, Alvaro, Denny, Joshua C, Moons, Karel G, Shintani, Ayumi K, Roden, Dan M, Darbar, Dawood
Published in Circulation (New York, N.Y.) (25.11.2014)
Published in Circulation (New York, N.Y.) (25.11.2014)
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