Search Results - "Shoemaker, Moore B."

Clonal Hematopoiesis of Indeterminate Potential and Kidney Function Decline in the General Population by 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

“…Clonal hematopoiesis of indeterminate potential (CHIP), defined by the age-related ontogenesis of expanded leukemogenic variants indicative of a genetically…”
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Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse by 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

“…Abstract Aims Mitral valve prolapse (MVP) is a common valvular heart disease with a prevalence of >2% in the general adult population. Despite this high…”
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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 by 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

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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 by 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.

“…Brugada syndrome (BrS) is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of SCN5A , encoding the cardiac sodium…”
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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals by 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.

“…Upstream open reading frames (uORFs) are tissue-specific cis -regulators of protein translation. Isolated reports have shown that variants that create or…”
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Role of cardiac alpha-actinin 2 pathogenic variant in human myocardium mechanics by Rodriguez Garcia, Michelle C., Landim-Vieira, Maicon, Schmeckpeper, Jeffrey, Wang, Lili, Shoemaker, Moore B., Chase, Prescott B., Knollmann, Bjorn C., Pinto, J. Renato

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Establishing Pathogenicity of Novel LQTS8 Variant via Genomic Editing of Human iPSC by Kryshtal, Dmytro O., Chavali, Nikhil V., Parikh, Shan S., Wang, Lili, Glazer, Andrew M., Shoemaker, Moore B., Knollmann, Bjorn C.

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Inferring compound heterozygosity from large-scale exome sequencing data by 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.

“…Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a…”
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B-PO05-026 AGE-RELATED PREVALENCE OF RARE DISEASE-ASSOCIATED VARIANTS IN 1293 PATIENTS WITH EARLY-ONSET ATRIAL FIBRILLATION by 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.

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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 by 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

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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 by 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.

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Author Correction: Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes by 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.

“…A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21077-8…”
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Author Correction: Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals by 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.

“…A Correction to this paper has been published: https://doi.org/10.1038/s41467-021-21052-3…”
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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 by 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

“…Abstract only Background: Atrial fibrillation (AF) contributes to substantial morbidity, mortality, and healthcare costs. Accurate prediction of incident AF…”
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