FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations by Ader, Flavie, De Groote, Pascal, Réant, Patricia, Rooryck‐Thambo, Caroline, Dupin‐Deguine, Delphine, Rambaud, Caroline, Khraiche, Diala, Perret, Claire, Pruny, Jean François, Mathieu‐Dramard, Michèle, Gérard, Marion, Troadec, Yann, Gouya, Laurent, Jeunemaitre, Xavier, Van Maldergem, Lionel, Hagège, Albert, Villard, Eric, Charron, Philippe, Richard, Pascale

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Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes by Mary, Laura, Chennen, Kirsley, Stoetzel, Corinne, Antin, Manuela, Leuvrey, Anne, Nourisson, Elsa, Alanio‐Detton, Elisabeth, Antal, Maria C., Attié‐Bitach, Tania, Bouvagnet, Patrice, Bouvier, Raymonde, Buenerd, Annie, Clémenson, Alix, Devisme, Louise, Gasser, Bernard, Gilbert‐Dussardier, Brigitte, Guimiot, Fabien, Khau Van Kien, Philippe, Leroy, Brigitte, Loget, Philippe, Martinovic, Jelena, Pelluard, Fanny, Perez, Marie‐Josée, Petit, Florence, Pinson, Lucile, Rooryck‐Thambo, Caroline, Poch, Olivier, Dollfus, Hélène, Schaefer, Elise, Muller, Jean

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Single Circulating Fetal Trophoblastic Cells Eligible for Non Invasive Prenatal Diagnosis: the Exception Rather than the Rule by Cayrefourcq, Laure, Vincent, Marie-Claire, Pierredon, Sandra, Moutou, Céline, Imbert-Bouteille, Marion, Haquet, Emmanuelle, Puechberty, Jacques, Willems, Marjolaine, Liautard-Haag, Cathy, Molinari, Nicolas, Zordan, Cécile, Dorian, Virginie, Rooryck-Thambo, Caroline, Goizet, Cyril, Chaussenot, Annabelle, Rouzier, Cécile, Boureau-Wirth, Amandine, Monteil, Laetitia, Calvas, Patrick, Miry, Claire, Favre, Romain, Petrov, Yuliya, Khau Van Kien, Philippe, Le Boette, Elsa, Fradin, Mélanie, Alix-Panabières, Catherine, Guissart, Claire

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A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology by Migliavacca, Eugenia, Golzio, Christelle, Männik, Katrin, Blumenthal, Ian, Oh, Edwin C, Harewood, Louise, Kosmicki, Jack A, Loviglio, Maria Nicla, Giannuzzi, Giuliana, Hippolyte, Loyse, Maillard, Anne M, Alfaiz, Ali Abdullah, van Haelst, Mieke M, Andrieux, Joris, Gusella, James F, Daly, Mark J, Beckmann, Jacques S, Jacquemont, Sébastien, Talkowski, Michael E, Katsanis, Nicholas, Reymond, Alexandre

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Developmental trajectories of neuroanatomical alterations associated with the 16p11.2 Copy Number Variations by Cárdenas-de-la-Parra, Alonso, Martin-Brevet, Sandra, Moreau, Clara, Rodriguez-Herreros, Borja, Fonov, Vladimir S., Maillard, Anne M., Zürcher, Nicole R., Addor, Marie-Claude, Andrieux, Joris, Arveiler, Benoît, Baujatm, Geneviève, Sloan-Bénan, Frédérique, Belfiore, Marco, Bonneau, Dominique, Bouquillon, Sonia, Boute, Odile, Brusco, Alfredo, Busa, Tiffany, Caberg, Jean-Hubert, Campion, Dominique, Colombert, Vanessa, Cordier, Marie-Pierre, David, Albert, Debray, François-Guillaume, Delrue, Marie-Ange, Doco-Fenzy, Martine, Dunkhase-Heinl, Ulrike, Edery, Patrick, Fagerberg, Christina, Faivre, Laurence, Forzano, Francesca, Genevieve, David, Gérard, Marion, Giachino, Daniela, Guichet, Agnès, Guillin, Olivier, Héron, Delphine, Isidor, Bertrand, Jacquette, Aurélia, Jaillard, Sylvie, Journel, Hubert, Keren, Boris, Lacombe, Didier, Lebon, Sébastien, Le Caignec, Cédric, Lemaître, Marie-Pierre, Lespinasse, James, Mathieu-Dramart, Michèle, Mercier, Sandra, Mignot, Cyril, Missirian, Chantal, Petit, Florence, Pilekær Sørensen, Kristina, Pinson, Lucile, Plessis, Ghislaine, Prieur, Fabienne, Rooryck-Thambo, Caroline, Rossi, Massimiliano, Sanlaville, Damien, Schlott Kristiansen, Britta, Schluth-Bolard, Caroline, Till, Marianne, Van Haelst, Mieke, Van Maldergem, Lionel, Hadjikhani, Nouchine, Beckmann, Jacques S., Reymond, Alexandre, Draganski, Bogdan, Jacquemont, Sébastien, Collins, D. Louis

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CRISPR-Cas9 globin editing can induce megabase-scale copy-neutral losses of heterozygosity in hematopoietic cells by Boutin, J., Rosier, J., Cappellen, D., Prat, F., Toutain, J., Pennamen, P., Bouron, J., Rooryck, C., Merlio, J. P., Lamrissi-Garcia, I., Cullot, G., Amintas, S., Guyonnet-Duperat, V., Ged, C., Blouin, J. M., Richard, E., Dabernat, S., Moreau-Gaudry, F., Bedel, A.

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A recurrent missense variant in EYA3 gene is associated with oculo-auriculo-vertebral spectrum by Tingaud-Sequeira, Angèle, Trimouille, Aurélien, Salaria, Manju, Stapleton, Rachel, Claverol, Stéphane, Plaisant, Claudio, Bonneu, Marc, Lopez, Estelle, Arveiler, Benoit, Lacombe, Didier, Rooryck, Caroline

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Evidence of mosaicism in SPAST variant carriers in four French families by Angelini, Chloé, Goizet, Cyril, Said, Samia Ait, Camu, William, Depienne, Christel, Heron, Bénédicte, Kol, Bophara, Guillaud-Bataille, Marine, Pennamen, Perrine, Rooryck, Caroline, Scherer-Gagou, Clarisse, Tissier, Laurène, Stevanin, Giovanni, Leguern, Eric, Banneau, Guillaume

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations by Ader, Flavie, de Groote, Pascal, Réant, Patricia, Rooryck-Thambo, Caroline, Dupin-Deguine, Delphine, Rambaud, Caroline, Khraiche, Diala, Perret, Claire, Pruny, Jean François, Mathieu-Dramard, Michèle, Gérard, Marion, Troadec, Yann, Gouya, Laurent, Jeunemaitre, Xavier, van Maldergem, Lionel, Hagège, Albert, Villard, Eric, Charron, Philippe, Richard, Pascale

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FLNC pathogenic variants in patients with cardiomyopathies: Prevalence and genotype‐phenotype correlations by Ader, Flavie, de Groote, Pascal, Réant, Patricia, Rooryck-Thambo, Caroline, Dupin-Deguine, Delphine, Rambaud, Caroline, Khraiche, Diala, Perret, Claire, Pruny, Jean François, Mathieu-Dramard, Michele, Gérard, Marion, Troadec, Yann, Gouya, Laurent, Jeunemaitre, Xavier, van Maldergem, Lionel, Hagège, Albert, Villard, Eric, Charron, Philippe, Richard, Pascale

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Morphological and functional abnormalities pattern in hypertrophy-free HCM mutation carriers detected with echocardiography by Peyrou, Jérôme, Réant, Patricia, Reynaud, Amélie, Cornolle, Claire, Dijos, Marina, Rooryck-Thambo, Caroline, Landelle, Mathieu, Montaudon, Michel, Laurent, François, Roudaut, Raymond, Lafitte, Stéphane

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Is there any intra-aneuvrysmal blood marker of aneuvrysm wall inflammation? Crossed analysis between transcriptomic and proteomic data by Gariel, Florent, Rooryck-Thambo, Caroline, Marnat, Gaultier, Barreau, Xavier, Ménégon, Patrice, Jecko, Vincent, Penchet, Guillaume, Dousset, Vincent, Tourdias, Thomas, Blanco, Patrick, Berge, Jérôme

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Socio-Behavioral Characteristics of Children with Rubinstein-Taybi Syndrome by Galéra, Cédric, Taupiac, Emmanuelle, Fraisse, Sonia, Naudion, Sophie, Toussaint, Eva, Rooryck-Thambo, Caroline, Delrue, Marie-Ange, Arveiler, Benoit, Lacombe, Didier, Bouvard, Manuel-Pierre

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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia by Curie, Aurore, Nazir, Tatjana, Brun, Amandine, Paulignan, Yves, Reboul, Anne, Delange, Karine, Cheylus, Anne, Bertrand, Sophie, Rochefort, Fanny, Bussy, Gérald, Marignier, Stéphanie, Lacombe, Didier, Chiron, Catherine, Cossée, Mireille, Leheup, Bruno, Philippe, Christophe, Laugel, Vincent, De Saint Martin, Anne, Sacco, Silvia, Poirier, Karine, Bienvenu, Thierry, Souville, Isabelle, Gilbert-Dussardier, Brigitte, Bieth, Eric, Kauffmann, Didier, Briot, Philippe, de Fréminville, Bénédicte, Prieur, Fabienne, Till, Michel, Rooryck-Thambo, Caroline, Mortemousque, Isabelle, Bobillier-Chaumont, Isabelle, Toutain, Annick, Touraine, Renaud, Sanlaville, Damien, Chelly, Jamel, Freeman, Sonya, Kong, Jian, Hadjikhani, Nouchine, Gollub, Randy L, Roy, Alice, des Portes, Vincent

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0298 : Action potential shortening in the pig right ventricular outflow tract epicardium by Dubes, Virginie, Charron, Sabine, Belterman, Charly, Rooryck-Thambo, Caroline, White, Edward, Haissaguerre, Michel, Coronel, Ruben, Bernus, Olivier, Benoist, David

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Première description neuropathologique de deux fœtus porteurs de variants pathogènes d’EIF2B5 by Trimouille, Aurélien, Marguet, Florent, Naudion, Sophie, Arveiler, Benoît, Boespflug-Tanguy, Odile, Sauvestre, Fanny, Martin-Négrier, Marie-Laure, Pelluard, Fanny, Rooryck-Thambo, Caroline, Lasseaux, Eulalie, Laquerriere, Annie

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Étude des topologically associated domains (TADs) en diagnostic : retour d’expérience du CHU de Bordeaux by Trimouille, Aurélien, Tingaud-Sequeira, Angèle, Pennamen, Perrine, Andre, Gwenaelle, Bouron, Julie, Fergelot, Patricia, Lacombe, Didier, Arveiler, Benoit, Rooryck-Thambo, Caroline

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0305 : Heterogeneous conduction properties in the pig right ventricle by Benoist, David, Dubes, Virginie, Charron, Sabine, Gilbert, Stephen, Belterman, Charly, Constantin, Marion, Naulin, Jérôme, Magat, Julie, Ozenne, Valéry, Rooryck-Thambo, Caroline, Quesson, Bruno, Haïssaguerre, Michel, Coronel, Ruben, Bernus, Olivier

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0244: Pro-arrhythmic ventricular remodeling in a porcine model of repaired tetralogy of Fallot by Roubertie, Francois, Dubes, Virginie, Benoist, David, Gilbert, Steve, Constantin, Marion, Elbes, Delphine, Vieillot, Delphine, Charron, Sabine, Cochet, Hubert, Quesson, Bruno, Rooryck-Thambo, Caroline, Haissaguerre, Michel, Bordachar, Pierre, Bernus, Olivier, Thambo, Jean-Benoit

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0354: Pro-arrhythmic ventricular remodeling in a porcine model of repaired tetralogy of Fallot by Dubes, Virginie, Benoist, David, Roubertie, François, Gilbert, Steve, Constantin, Marion, Elbes, Delphine, Vieillot, Delphine, Charron, Sabine, Cochet, Hubert, Quesson, Bruno, Rooryck-Thambo, Caroline, Bordachar, Pierre, Haissaguerre, Michel, Thambo, Jean-Benoit, Bernus, Olivier

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