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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
Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature Marzin, Pauline; Rondeau, Sophie; Alessandri, Jean-Luc; Dieterich, Klaus; le Goff, Carine; Mahaut, Clementine; Mercier, Sandra; Michot, Caroline; Moldovan, Oana; Miolo, Gianmaria; Rossi, Massimiliano; Van-Gils, Julien; Francannet, Christine; Robert, Matthieu; Jais, Jean-Philippe; Huber, Celine; Cormier-Daire, Valerie Share Save
Unexpected Inheritance Patterns in a Large Cohort of Patients with a Suspected Ciliopathy Gouronc, Aurelie; Javey, Elodie; Leuvrey, Anne-Sophie; Nourisson, Elsa; Friedmann, Sylvie; Reichert, Valerie; Derive, Nicolas; Francannet, Christine; Keren, Boris; Levy, Jonathan; Planes, Marc; Ruaud, Lyse; Amiel, Jeanne; Dollfus, Helene; Scheidecker, Sophie; Muller, Jean Share Save
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant Aerden, Mio; Denomme-Pichon, Anne-Sophie; Bonneau, Dominique; Bruel, Ange-Line; Delanne, Julian; Gerard, Benedicte; Mazel, Benoit; Philippe, Christophe; Pinson, Lucile; Prouteau, Clement; Putoux, Audrey; Tran Mau-Them, Frederic; Viora-Dupont, Eleonore; Vitobello, Antonio; Ziegler, Alban; Piton, Amelie; Isidor, Bertrand; Francannet, Christine; Maillard, Pierre-Yves; Julia, Sophie; Philippe, Anais; Schaefer, Elise; Koene, Saskia; Ruivenkamp, Claudia; Hoffer, Mariette; Legius, Eric; Theunis, Miel; Keren, Boris; Buratti, Julien; Charles, Perrine; Courtin, Thomas; Misra-Isrie, Mala; van Haelst, Mieke; Waisfisz, Quinten; Wieczorek, Dagmar; Schmetz, Ariane; Herget, Theresia; Kortuem, Fanny; Lisfeld, Jasmin; Debray, Francois-Guillaume; Bramswig, Nuria C.; Atallah, Isis; Fodstad, Heidi; Jouret, Guillaume; Almoguera, Berta; Tahsin-Swafiri, Saoud; Santos-Simarro, Fernando; Palomares-Bralo, Maria; Lopez-Gonzalez, Vanesa; Kibaek, Maria; Torring, Pernille M.; Renieri, Alessandra; Bruno, Lucia Pia; Ounap, Katrin; Wojcik, Monica; Hsieh, Tzung-Chien; Krawitz, Peter; Van Esch, Hilde Share Save
New insights into CC2D2A-related Joubert syndrome Harion, Madeleine; Qebibo, Leila; Riquet, Audrey; Rougeot, Christelle; Afenjar, Alexandra; Garel, Catherine; Louha, Malek; Lacaze, Emmanuelle; Audic-Gerard, Frederique; Barth, Magali; Berquin, Patrick; Bonneau, Dominique; Bourdain, Frederic; Busa, Tiffany; Colin, Estelle; Cuisset, Jean-Marie; Des Portes, Vincent; Dorison, Nathalie; Francannet, Christine; Heron, Benedicte; Laroche, Cecile; Lebrun, Marine; Metreau, Julia; Odent, Sylvie; Pasquier, Laurent; Trujillo, Yaumara Perdomo; Perrin, Laurine; Pinson, Lucile; Rivier, Francois; Sigaudy, Sabine; Thauvin-Robinet, Christel; Louvier, Ulrike Walther; Labayle, Olivier; Rodriguez, Diana; Valence, Stephanie; Burglen, Lydie Share Save
Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis? Bourgon, Nicolas; Garde, Aurore; Bruel, Ange-Line; Lefebvre, Mathilde; Mau-Them, Frederic Tran; Moutton, Sebastien; Sorlin, Arthur; Nambot, Sophie; Delanne, Julian; Chevarin, Martin; Poe, Charlotte; Thevenon, Julien; Lehalle, Daphne; Jean-Marcais, Nolween; Kuentz, Paul; Lambert, Laetitia; El Chehadeh, Salima; Schaefer, Elise; Willems, Marjolaine; Laffargue, Fanny; Francannet, Christine; Fradin, Melanie; Gaillard, Dominique; Blesson, Sophie; Goldenberg, Alice; Capri, Yline; Sagot, Paul; Rousseau, Thierry; Simon, Emmanuel; Binquet, Christine; Ascencio, Marie-Laure; Duffourd, Yannis; Philippe, Christophe; Faivre, Laurence; Vitobello, Antonio; Thauvin-Robinet, Christel Share Save
SATB2-associated syndrome: characterization of skeletal features and of bone fragility in a prospective cohort of 19 patients Mouille, M.; Rio, M.; Breton, S.; Piketty, M. L.; Afenjar, A.; Amiel, J.; Capri, Y.; Goldenberg, A.; Francannet, C.; Michot, C.; Mignot, C.; Perrin, L.; Quelin, C.; Van Gils, J.; Barcia, G.; Pingault, V; Maruani, G.; Koumakis, E.; Cormier-Daire, V Share Save
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Integrative approach to interpret DYRK1A variants, leading to a frequent neurodevelopmental disorder Courraud, Jeremie; Chater-Diehl, Eric; Durand, Benjamin; Vincent, Marie; del Mar Muniz Moreno, Maria; Boujelbene, Imene; Drouot, Nathalie; Genschik, Loreline; Schaefer, Elise; Nizon, Mathilde; Gerard, Benedicte; Abramowicz, Marc; Cogne, Benjamin; Bronicki, Lucas; Burglen, Lydie; Barth, Magalie; Charles, Perrine; Colin, Estelle; Coubes, Christine; David, Albert; Delobel, Bruno; Demurger, Florence; Passemard, Sandrine; Denomme, Anne-Sophie; Faivre, Laurence; Feger, Claire; Fradin, Melanie; Francannet, Christine; Genevieve, David; Goldenberg, Alice; Guerrot, Anne-Marie; Isidor, Bertrand; Johannesen, Katrine M.; Keren, Boris; Kibaek, Maria; Kuentz, Paul; Mathieu-Dramard, Michele; Demeer, Benedicte; Metreau, Julia; Steensbjerre Moller, Rikke; Moutton, Sebastien; Pasquier, Laurent; Pilekaer Sorensen, Kristina; Perrin, Laurence; Renaud, Mathilde; Saugier, Pascale; Rio, Marlene; Svane, Joane; Thevenon, Julien; Tran Mau Them, Frederic; Tronhjem, Cathrine Elisabeth; Vitobello, Antonio; Layet, Valerie; Auvin, Stephane; Khachnaoui, Khaoula; Birling, Marie-Christine; Drunat, Severine; Bayat, Allan; Dubourg, Christele; El Chehadeh, Salima; Fagerberg, Christina; Mignot, Cyril; Guipponi, Michel; Bienvenu, Thierry; Herault, Yann; Thompson, Julie; Willems, Marjolaine; Mandel, Jean-Louis; Weksberg, Rosanna; Piton, Amelie Share Save
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families Benkirane, Mehdi; Marelli, Cecilia; Guissart, Claire; Roubertie, Agathe; Ollagnon, Elizabeth; Choumert, Ariane; Fluchere, Frederique; Magne, Fabienne Ory; Halleb, Yosra; Renaud, Mathilde; Larrieu, Lise; Baux, David; Patat, Olivier; Bousquet, Idriss; Ravel, Jean-Marie; Cuntz-Shadfar, Danielle; Sarret, Catherine; Ayrignac, Xavier; Rolland, Anne; Morales, Raoul; Pointaux, Morgane; Lieutard-Haag, Cathy; Laurens, Brice; Tillikete, Caroline; Bernard, Emilien; Mallaret, Martial; Carra-Dalliere, Clarisse; Tranchant, Christine; Meyer, Pierre; Damaj, Lena; Pasquier, Laurent; Acquaviva, Cecile; Chaussenot, Annabelle; Isidor, Bertrand; Nguyen, Karine; Camu, William; Eusebio, Alexandre; Carriere, Nicolas; Riquet, Audrey; Thouvenot, Eric; Gonzales, Victoria; Carme, Emilie; Attarian, Shahram; Odent, Sylvie; Castrioto, Anna; Ewenczyk, Claire; Charles, Perrine; Kremer, Laurent; Sissaoui, Samira; Bahi-buisson, Nadia; Kaphan, Elsa; Degardin, Adrian; Doray, Berenice; Julia, Sophie; Remerand, Ganaelle; Fraix, Valerie; Haidar, Lydia Abou; Lazaro, Leila; Laugel, Vincent; Villega, Frederic; Charlin, Cyril; Frismand, Solene; Moreira, Marinha Costa; Witjas, Tatiana; Francannet, Christine; Walther-Louvier, Ulrike; Fradin, Melanie; Chabrol, Brigitte; Fluss, Joel; Bieth, Eric; Castelnovo, Giovanni; Vergnet, Sylvain; Meunier, Isabelle; Verloes, Alain; Brischoux-Boucher, Elise; Coubes, Christine; Genevieve, David; Lebouc, Nicolas; Azulay, Jean Phillipe; Anheim, Mathieu; Goizet, Cyril; Rivier, Francois; Labauge, Pierre; Calvas, Patrick; Koenig, Michel Share Save
Identification of limb-specific Lmx1b auto-regulatory modules with Nail-patella syndrome pathogenicity Haro, Endika; Petit, Florence; Pira, Charmaine U.; Spady, Conor D.; Lucas-Toca, Sara; Yorozuya, Lauren, I; Gray, Austin L.; Escande, Fabienne; Jourdain, Anne-Sophie; Nguyen, Andy; Fellmann, Florence; Good, Jean-Marc; Francannet, Christine; Manouvrier-Hanu, Sylvie; Ros, Marian A.; Oberg, Kerby C. Share Save
Unsuspected somatic mosaicism for FBN1 gene contributes to Marfan syndrome Arnaud, Pauline; Morel, Helene; Milleron, Olivier; Gouya, Laurent; Francannet, Christine; Da Costa, Antoine; Le Goff, Carine; Jondeau, Guillaume; Boileau, Catherine; Hanna, Nadine Share Save
Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita Laquerriere, Annie; Jaber, Dana; Abiusi, Emanuela; Maluenda, Jerome; Mejlachowicz, Dan; Vivanti, Alexandre; Dieterich, Klaus; Stoeva, Radka; Quevarec, Loic; Nolent, Flora; Biancalana, Valerie; Latour, Philippe; Sternberg, Damien; Capri, Yline; Verloes, Alain; Bessieres, Bettina; Loeuillet, Laurence; Attie-Bitach, Tania; Martinovic, Jelena; Blesson, Sophie; Petit, Florence; Beneteau, Claire; Whalen, Sandra; Marguet, Florent; Bouligand, Jerome; Heron, Delphine; Viot, Geraldine; Amiel, Jeanne; Amram, Daniel; Bellesme, Celine; Bucourt, Martine; Faivre, Laurence; Jouk, Pierre-Simon; Khung, Suonavy; Sigaudy, Sabine; Delezoide, Anne-Lise; Goldenberg, Alice; Jacquemont, Marie-Line; Lambert, Laetitia; Layet, Valerie; Lyonnet, Stanislas; Munnich, Arnold; Van Maldergem, Lionel; Piard, Juliette; Guimiot, Fabien; Landrieu, Pierre; Letard, Pascaline; Pelluard, Fanny; Perrin, Laurence; Saint-Frison, Marie-Helene; Topaloglu, Haluk; Trestard, Laetitia; Vincent-Delorme, Catherine; Amthor, Helge; Barnerias, Christine; Benachi, Alexandra; Bieth, Eric; Boucher, Elise; Cormier-Daire, Valerie; Delahaye-Duriez, Andree; Desguerre, Isabelle; Eymard, Bruno; Francannet, Christine; Grotto, Sarah; Lacombe, Didier; Laffargue, Fanny; Legendre, Marine; Martin-Coignard, Dominique; Megarbane, Andre; Mercier, Sandra; Nizon, Mathilde; Rigonnot, Luc; Prieur, Fabienne; Quelin, Chloe; Ranjatoelina-Randrianaivo, Hanitra; Resta, Nicoletta; Toutain, Annick; Verhelst, Helene; Vincent, Marie; Colin, Estelle; Fallet-Bianco, Catherine; Granier, Michele; Grigorescu, Romulus; Saada, Julien; Gonzales, Marie; Guiochon-Mantel, Anne; Bessereau, Jean-Louis; Tawk, Marcel; Gut, Ivo; Gitiaux, Cyril; Melki, Judith Share Save
Biallelic loss-of-function variants in PLD1 cause congenital right-sided cardiac valve defects and neonatal cardiomyopathy Lahrouchi, Najim; Postma, Alex V.; Salazar, Christian M.; Laughter, Daniel M. De; Tjong, Fleur; Piherova, Lenka; Bowling, Forrest Z.; Zimmerman, Dominic; Lodder, Elisabeth M.; Ta-Shma, Asaf; Perles, Zeev; Beekman, Leander; Ilgun, Aho; Gunst, Quinn; Hababa, Mariam; Skoric-Milosavljevic, Doris; Stranecky, Viktor; Tomek, Viktor; Knijff, Peter de; Leeuw, Rick de; Robinson, Jamille Y.; Burn, Sabrina C.; Mustafa, Hiba; Ambrose, Matthew; Moss, Timothy; Jacober, Jennifer; Niyazov, Dmitriy M.; Wolf, Barry; Kim, Katherine H.; Cherny, Sara; Rousounides, Andreas; Aristidou-Kallika, Aphrodite; Tanteles, George; Ange-Line, Bruel; Denomme-Pichon, Anne-Sophie; Francannet, Christine; Ortiz, Damara; Haak, Monique C.; Harkel, Arend D. J. Ten; Manten, Gwendolyn T. R.; Dutman, Annemiek C.; Bouman, Katelijne; Magliozzi, Monia; Radio, Francesca Clementina; Santen, Gijs W. E.; Herkert, Johanna C.; Brown, H. Alex; Elpeleg, Orly; Hoff, Maurice J. B. van den; Mulder, Barbara; Airola, Michael V.; Kmoch, Stanislav; Barnett, Joey V.; Clur, Sally-Ann; Frohman, Michael A.; Bezzina, Connie R. Share Save
Next-generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy Liu, Hui; Giguet-Valard, Anna-Gaelle; Simonet, Thomas; Szenker-Ravi, Emmanuelle; Lambert, Laetitia; Vincent-Delorme, Catherine; Scheidecker, Sophie; Fradin, Melanie; Morice-Picard, Fanny; Naudion, Sophie; Ciorna-Monferrato, Viorica; Colin, Estelle; Fellmann, Florence; Blesson, Sophie; Jouk, Pierre-Simon; Francannet, Christine; Petit, Florence; Moutton, Sebastien; Lehalle, Daphne; Chassaing, Nicolas; El Zein, Loubna; Bazin, Anne; Beneteau, Claire; Attie-Bitach, Tania; Hanu, Sylvie M.; Brechard, Marie-Pierre; Chiesa, Jean; Pasquier, Laurent; Rooryck-Thambo, Caroline; Van Maldergem, Lionel; Cabrol, Christelle; El Chehadeh, Salima; Vasiljevic, Alexandre; Isidor, Bertrand; Abel, Carine; Thevenon, Julien; Di Filippo, Sylvie; Vigouroux-Castera, Adeline; Attia, Jocelyne; Quelin, Chloe; Odent, Sylvie; Piard, Juliette; Giuliano, Fabienne; Putoux, Audrey; Khau Van Kien, Philippe; Yardin, Catherine; Touraine, Renaud; Reversade, Bruno; Bouvagnet, Patrice Share Save
Genotype-first in a cohort of 95 fetuses with multiple congenital abnormalities: when exome sequencing reveals unexpected fetal phenotype-genotype correlations Lefebvre, Mathilde; Bruel, Ange-Line; Tisserant, Emilie; Bourgon, Nicolas; Duffourd, Yannis; Collardeau-Frachon, Sophie; Attie-Bitach, Tania; Kuentz, Paul; Assoum, Mirna; Schaefer, Elise; Chehadeh, Salima El; Antal, Maria Cristina; Kremer, Valerie; Girard-Lemaitre, Francoise; Mandel, Jean-Louis; Lehalle, Daphne; Nambot, Sophie; Jean-Marcais, Nolwenn; Houcinat, Nada; Moutton, Sebastien; Marle, Nathalie; Lambert, Laetita; Jonveaux, Philippe; Foliguet, Bernard; Mazutti, Jean-Pierre; Gaillard, Dominique; Alanio, Elisabeth; Poirisier, Celine; Lebre, Anne-Sophie; Aubert-Lenoir, Marion; Arbez-Gindre, Francine; Odent, Sylvie; Quelin, Chloe; Loget, Philippe; Fradin, Melanie; Willems, Marjolaine; Bigi, Nicole; Perez, Marie-Jose; Blesson, Sophie; Francannet, Christine; Beaufrere, Anne-Marie; Patrier-Sallebert, Sophie; Guerrot, Anne-Marie; Goldenberg, Alice; Brehin, Anne-Claire; Lespinasse, James; Touraine, Renaud; Capri, Yline; Saint-Frison, Marie-Helene; Laurent, Nicole; Philippe, Christophe; Mau-Them, Frederic Tran; Thevenon, Julien; Faivre, Laurence; Thauvin-Robinet, Christel; Vitobello, Antonio Share Save
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency Zawerton, Ash; Mignot, Cyril; Sigafoos, Ashley; Blackburn, Patrick R.; Haseeb, Abdul; McWalter, Kirsty; Ichikawa, Shoji; Nava, Caroline; Keren, Boris; Charles, Perrine; Marey, Isabelle; Tabet, Anne-Claude; Levy, Jonathan; Perrin, Laurence; Hartmann, Andreas; Lesca, Gaetan; Schluth-Bolard, Caroline; Monin, Pauline; Dupuis-Girod, Sophie; Guillen Sacoto, Maria J.; Schnur, Rhonda E.; Zhu, Zehua; Poisson, Alice; El Chehadeh, Salima; Alembik, Yves; Bruel, Ange-Line; Lehalle, Daphne; Nambot, Sophie; Moutton, Sebastien; Odent, Sylvie; Jaillard, Sylvie; Dubourg, Christele; Hilhorst-Hofstee, Yvonne; Barbaro-Dieber, Tina; Ortega, Lucia; Bhoj, Elizabeth J.; Masser-Frye, Diane; Bird, Lynne M.; Lindstrom, Kristin; Ramsey, Keri M.; Narayanan, Vinodh; Fassi, Emily; Willing, Marcia; Cole, Trevor; Salter, Claire G.; Akilapa, Rhoda; Vandersteen, Anthony; Canham, Natalie; Rump, Patrick; Gerkes, Erica H.; Klein Wassink-Ruiter, Jolien S.; Bijlsma, Emilia; Hoffer, Mariette J. V.; Vargas, Marcelo; Wojcik, Antonina; Cherik, Florian; Francannet, Christine; Rosenfeld, Jill A.; Machol, Keren; Scott, Daryl A.; Bacino, Carlos A.; Wang, Xia; Clark, Gary D.; Bertoli, Marta; Zwolinski, Simon; Thomas, Rhys H.; Akay, Ela; Chang, Richard C.; Bressi, Rebekah; Sanchez Russo, Rossana; Srour, Myriam; Russell, Laura; Goyette, Anne-Marie E.; Dupuis, Lucie; Mendoza-Londono, Roberto; Karimov, Catherine; Joseph, Maries; Nizon, Mathilde; Cogne, Benjamin; Kuechler, Alma; Piton, Amelie; Klee, Eric W.; Lefebvre, Veronique; Clark, Karl J.; Depienne, Christel Share Save
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