Not logged in MYH6 in Congenital Heart Defects: A Genotype-Phenotype Characterization in a French Cohort Daire, Elise; Sauvestre, Clement; Moktadir, Antoine; Bouvagnet, Patrice; Brehin, Anne-Claire; Chabaneix, Julie; Darwiche, Walaa; Dirani, Sabine; Domanski, Olivia; Gouy, Evan; Hermida, Alexis; Jeanne, Mederic; Jobic, Florence; Jousselin, Kevin; Julia, Sophie; Marsili, Luisa; Messaoudi, Kahia; Michaud, Vincent; Perthus, Isabelle; Rooryck, Caroline; Jedraszak, Guillaume Share Save
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Reanalysis of unsolved prenatal exome sequencing for structural defects: diagnostic yield and contribution of postnatal/postmortem features Thauvin-Robinet, Christel; Garde, Aurore; Favier, Maud; Delanne, Julian; Racine, Caroline; Rousseau, Thierry; Nambot, Sophie; Bruel, Ange-Line; Moutton, Sebastien; Quelin, Chloe; Colson, Cindy; Brehin, Anne-Claire; Guerrot, Anne-Marie; Rooryck, Caroline; Putoux, Audrey; Blanchet, Patricia; Odent, Sylvie; Schaefer, Elise; Boute, Odile; Goldenberg, Alice; Guichet, Agnes; Abel, Carine; Morel, Godelieve; Fradin, Melanie; Isidor, Bertrand; Vincent, Marie; Francannet, Christine; Vera, Gabriella; Petit, Florence; Nizon, Mathilde; Wells, Constance; Jeanne, Mederic; Deiller, Caroline; Ziegler, Alban; Godin, Manon; Saugier-Veber, Pascale; Cassinari, Kevin; Blanc, Pierre; Simon, Emmanuel; Binquet, Christine; Duffourd, Yannis; Safraou, Hana; Denomme-Pichon, Anne-Sophie; Vitobello, Antonio; Philippe, Christophe; Faivre, Laurence; Tran-Mau-Them, Frederic; Bourgon, Nicolas Share Save
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Clinical impact of genetic testing in a large cohort of pediatric cardiomyopathies Ader, Flavie; Derridj, Neil; Brehin, Anne Claire; Domanski, Olivia; Baudelet, Jean Benoit; Gras, Pauline; Kuster, Alice; Benbrik, Nadir; Troadec, Yann; Denjoy, Isabelle; Bonnefoy, Ronan; Beyler, Constance; El Chehadeh, Salima; Schaeffer, Elise; Dupin-Deguine, Delphine; Bloch, Adrien; Rooryck, Caroline; Proukhnitzky, Julie; Bosser, Gilles; Vincenti, Marie; Gandjbakhch, Estelle; Charron, Philippe; Richard, Pascale; Bonnet, Damien; Khraiche, Diala Share Save
Prevalence of Fabry disease in patients with chronic pain: Lessons from the DOUFAB and DOUFABIS studies Angelini, Chloe; Bar, Claire; Baudier, Marie Pierre; Fergelot, Patricia; Lancelot, Gwenaelle; Rooryck, Caroline; Germain, Dominique P.; Jabbour, Firas; Blanchet, Anne-Sophie; Cauchie, Alexandre; Sarrazin, Elisabeth; Bellance, Remi; Lefaucheur, Jean-Pascal; Bismuth, Julie; Ranque-Garnier, Stephanie; Corand, Virginie; Coupry, Isabelle; Goizet, Cyril Share Save
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis Hermida, Alexis; Ader, Flavie; Millat, Gilles; Jedraszak, Guillaume; Maury, Phillipe; Cador, Romain; Catalan, Pierre-Antoine; Clerici, Gael; Combes, Nicolas; De Groote, Pascal; Dupin-Deguine, Delphine; Eschalier, Romain; Faivre, Laurence; Garcia, Patricia; Guillon, Benoit; Janin, Alexandre; Kugener, Beatrice; Lackmy, Marylin; Laredo, Mikael; Le Guillou, Xavier; Lesaffre, Francois; Lucron, Hugues; Milhem, Antoine; Nadeau, Gwenael; Nguyen, Karine; Palmyre, Aurelien; Perdreau, Elodie; Picard, Francois; Rebotier, Nicolas; Richard, Pascale; Rooryck, Caroline; Seitz, Julien; Verloes, Alain; Vernier, Agathe; Winum, Pierre; Yabeta, Grace-A-Dieu; Bouchot, Oceane; Chevalier, Philippe; Charron, Philippe; Gandjbakhch, Estelle Share Save
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Denomme-Pichon, Anne-Sophie; Matalonga, Leslie; de Boer, Elke; Jackson, Adam; Benetti, Elisa; Banka, Siddharth; Bruel, Ange-Line; Ciolfi, Andrea; Clayton-Smith, Jill; Dallapiccola, Bruno; Duffourd, Yannis; Ellwanger, Kornelia; Fallerini, Chiara; Gilissen, Christian; Graessner, Holm; Haack, Tobias B.; Havlovicova, Marketa; Hoischen, Alexander; Jean-Marcais, Nolwenn; Kleefstra, Tjitske; Lopez-Martin, Estrella; Macek, Milan, Jr.; Mencarelli, Maria Antonietta; Moutton, Sebastien; Pfundt, Rolph; Pizzi, Simone; Posada, Manuel; Radio, Francesca Clementina; Renieri, Alessandra; Rooryck, Caroline; Ryba, Lukas; Safraou, Hana; Schwarz, Martin; Tartaglia, Marco; Thauvin-Robinet, Christel; Thevenon, Julien; Mau-Them, Frederic Tran; Trimouille, Aurelien; Votypka, Pavel; Vries, Bert B. A. de; Willemsen, Marjolein H.; Zurek, Birte; Verloes, Alain; Philippe, Christophe; Vitobello, Antonio; Vissers, Lisenka E. L. M.; Faivre, Laurence Share Save
Abnormal Cellular Phenotypes Induced by Three TMPO/LAP2 Variants Identified in Men with Cardiomyopathies Vadrot, Nathalie; Ader, Flavie; Moulin, Maryline; Merlant, Marie; Chapon, Francoise; Gandjbakhch, Estelle; Labombarda, Fabien; Maragnes, Pascale; Reant, Patricia; Rooryck, Caroline; Probst, Vincent; Donal, Erwan; Richard, Pascale; Ferreiro, Ana; Buendia, Brigitte Share Save
OTX2 duplications: a recurrent cause of oculo-auriculo-vertebral spectrum Celse, Tristan; Tingaud-Sequeira, Angele; Dieterich, Klaus; Siegfried, Geraldine; Lecaignec, Cedric; Bouneau, Laurence; Fannemel, Madeleine; Salaun, Gaelle; Laffargue, Fanny; Martinez, Guillaume; Satre, Veronique; Vieville, Gaelle; Bidart, Marie; Zander, Cecilia Soussi; Turesson, Ann-Charlotte; Splitt, Miranda; Reboul, Dorothee; Chiesa, Jean; Van Kien, Philippe Khau; Godin, Manon; Gruchy, Nicolas; Goel, Himanshu; Palmer, Elizabeth; Demetriou, Kalliope; Shalhoub, Carolyn; Rooryck-Thambo, Caroline; Coutton, Charles Share Save
Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach Liautard-Haag, C.; Durif, G.; VanGoethem, C.; Baux, D.; Louis, A.; Cayrefourcq, L.; Lamairia, M.; Willems, M.; Zordan, C.; Dorian, V.; Rooryck, C.; Goizet, C.; Chaussenot, A.; Monteil, L.; Calvas, P.; Miry, C.; Favre, R.; Le Boette, E.; Fradin, M.; Roux, A. F.; Cossee, M.; Koenig, M.; Alix-Panabiere, C.; Guissart, C.; Vincent, M. C. Share Save
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
Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates (vol 52, pg 62, 2022) Szenker-Ravi, Emmanuelle; Ott, Tim; Khatoo, Muznah; de Bellaing, Anne Moreau; Goh, Wei Xuan; Chong, Yan Ling; Beckers, Anja; Kannesan, Darshini; Louvel, Guillaume; Anujan, Priyanka; Ravi, Vydianathan; Bonnard, Carine; Moutton, Sebastien; Schoen, Patric; Fradin, Melanie; Colin, Estelle; Megarbane, Andre; Daou, Linda; Chehab, Ghassan; Di Filippo, Sylvie; Rooryck, Caroline; Deleuze, Jean-Francois; Boland, Anne; Arribard, Nicolas; Eker, Rukiye; Tohari, Sumanty; Ng, Alvin Yu-Jin; Rio, Marlene; Lim, Chun Teck; Eisenhaber, Birgit; Eisenhaber, Frank; Venkatesh, Byrappa; Amiel, Jeanne; Crollius, Hugues Roest; Gordon, Christopher T.; Gossler, Achim; Roy, Sudipto; Attie-Bitach, Tania; Blum, Martin; Bouvagnet, Patrice; Reversade, Bruno Share Save
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
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Discovery of a genetic module essential for assigning left-right asymmetry in humans and ancestral vertebrates Szenker-Ravi, Emmanuelle; Ott, Tim; Khatoo, Muznah; de Bellaing, Anne Moreau; Goh, Wei Xuan; Chong, Yan Ling; Beckers, Anja; Kannesan, Darshini; Louvel, Guillaume; Anujan, Priyanka; Ravi, Vydianathan; Bonnard, Carine; Moutton, Sebastien; Schoen, Patric; Fradin, Melanie; Colin, Estelle; Megarbane, Andre; Daou, Linda; Chehab, Ghassan; Di Filippo, Sylvie; Rooryck, Caroline; Deleuze, Jean-Francois; Boland, Anne; Arribard, Nicolas; Eker, Rukiye; Tohari, Sumanty; Ng, Alvin Yu-Jin; Rio, Marlene; Lim, Chun Teck; Eisenhaber, Birgit; Eisenhaber, Frank; Venkatesh, Byrappa; Amiel, Jeanne; Crollius, Hugues Roest; Gordon, Christopher T.; Gossler, Achim; Roy, Sudipto; Attie-Bitach, Tania; Blum, Martin; Bouvagnet, Patrice; Reversade, Bruno Share Save
Modulation of the intrinsic chromatin binding property of HIV-1 integrase by LEDGF/p75 Lapaillerie, Delphine; Lelandais, Benoit; Mauro, Eric; Lagadec, Floriane; Tumiotto, Camille; Miskey, Csaba; Ferran, Guillaume; Kuschner, Natacha; Calmels, Christina; Metifiot, Mathieu; Rooryck, Caroline; Ivics, Zoltan; Ruff, Marc; Zimmer, Christophe; Lesbats, Paul; Toutain, Jerome; Parissi, Vincent Share Save
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