230 results on '"Nambot, Sophie"'
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2. The detection of a strong episignature for Chung–Jansen syndrome, partially overlapping with Börjeson–Forssman–Lehmann and White–Kernohan syndromes
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Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K. M., Rooney, Kathleen, Levy, Michael A., Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M., Vissers, Lisenka E. L. M., de Vries, Bert B. A., Pfundt, Rolph, Elting, Mariet W., van Hagen, Johanna M., Verbeek, Nienke E., Jongmans, Marjolijn C. J., Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G. M., Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E., Ounap, Katrin, Hoffer, Mariëtte J. V., Nezarati, Marjan M., van den Boogaard, Marie-José H., Tedder, Matthew L., Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B., Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J., Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A. M., Stuurman, Kyra E., Mannens, Marcel M. A. M., Alders, Mariëlle, Henneman, Peter, White, Susan M., Sadikovic, Bekim, and van Haelst, Mieke M.
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- 2024
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3. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
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Husson, Thomas, Lecoquierre, François, Nicolas, Gaël, Richard, Anne-Claire, Afenjar, Alexandra, Audebert-Bellanger, Séverine, Badens, Catherine, Bilan, Frédéric, Bizaoui, Varoona, Boland, Anne, Bonnet-Dupeyron, Marie-Noëlle, Brischoux-Boucher, Elise, Bonnet, Céline, Bournez, Marie, Boute, Odile, Brunelle, Perrine, Caumes, Roseline, Charles, Perrine, Chassaing, Nicolas, Chatron, Nicolas, Cogné, Benjamin, Colin, Estelle, Cormier-Daire, Valérie, Dard, Rodolphe, Dauriat, Benjamin, Delanne, Julian, Deleuze, Jean-François, Demurger, Florence, Denommé-Pichon, Anne-Sophie, Depienne, Christel, Dieux, Anne, Dubourg, Christèle, Edery, Patrick, El Chehadeh, Salima, Faivre, Laurence, Fergelot, Patricia, Fradin, Mélanie, Garde, Aurore, Geneviève, David, Gilbert-Dussardier, Brigitte, Goizet, Cyril, Goldenberg, Alice, Gouy, Evan, Guerrot, Anne-Marie, Guimier, Anne, Harzalla, Inès, Héron, Delphine, Isidor, Bertrand, Lacombe, Didier, Le Guillou Horn, Xavier, Keren, Boris, Kuechler, Alma, Lacaze, Elodie, Lavillaureix, Alinoë, Lehalle, Daphné, Lesca, Gaëtan, Lespinasse, James, Levy, Jonathan, Lyonnet, Stanislas, Morel, Godeliève, Jean-Marçais, Nolwenn, Marlin, Sandrine, Marsili, Luisa, Mignot, Cyril, Nambot, Sophie, Nizon, Mathilde, Olaso, Robert, Pasquier, Laurent, Perrin, Laurine, Petit, Florence, Pingault, Veronique, Piton, Amélie, Prieur, Fabienne, Putoux, Audrey, Planes, Marc, Odent, Sylvie, Quélin, Chloé, Quemener-Redon, Sylvia, Rama, Mélanie, Rio, Marlène, Rossi, Massimiliano, Schaefer, Elise, Rondeau, Sophie, Saugier-Veber, Pascale, Smol, Thomas, Sigaudy, Sabine, Touraine, Renaud, Mau-Them, Frederic Tran, Trimouille, Aurélien, Van Gils, Julien, Vanlerberghe, Clémence, Vantalon, Valérie, Vera, Gabriella, Vincent, Marie, Ziegler, Alban, Guillin, Olivier, Campion, Dominique, and Charbonnier, Camille
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- 2024
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4. Real-world prevalence, treatment and survival of “high risk” early breast cancer, with mandatory testing of gBRCA1/2 mutation according to the OlympiA trial inclusion criteria: Data from a population-based registry
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Ladoire, Sylvain, Mamguem Kamga, Ariane, Galland, Loick, Desmoulins, Isabelle, Mayeur, Didier, Kaderbhai, Courèche, Ilie, Silvia Mihaelia, Hennequin, Audrey, Jankowski, Clementine, Albuisson, Juliette, Nambot, Sophie, Coutant, Charles, Arnould, Laurent, Reda, Manon, Truntzer, Caroline, and Dabakuyo, Sandrine
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- 2024
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5. RNA variant assessment using transactivation and transdifferentiation
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Azmanov, Dimitar N., Barnett, Christopher P., Barry, Simon C., Baynam, Gareth, Berkovic, Samuel F., Christodoulou, John, Coman, David J., Cooper, Sandra, Corbett, Mark A., Delatycki, Martin, Dudding, Tracy E., Fletcher, Sue, Gardner, Alison E., Gecz, Jozef, Higgins, Megan J., Hildebrand, Michael S., Jolly, Lachlan A., Lister, Ryan, McGaughran, Julie, Pflueger, Christian, Poulton, Cathryn, Roscioli, Tony, Hamish S. Scott, Ingrid Scheffer, Sinclair, Andrew H., Spurdle, Amanda B., Tan, Tiong Y., van Eyk, Clare L., Voineagu, Irina, Nicolas-Martinez, Emmylou C., Robinson, Olivia, Gardner, Alison, Ritchie, Tarin, Kroes, Thessa, Scheffer, Ingrid E., Barnier, Jean-Vianney, Rousseau, Véronique, Genevieve, David, Haushalter, Virginie, Piton, Amélie, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Nambot, Sophie, Isidor, Bertrand, Grigg, John, Gonzalez, Tina, Ghedia, Sondhya, Marchant, Rhett G., Bournazos, Adam, Wong, Wui-Kwan, Webster, Richard I., Evesson, Frances J., Jones, Kristi J., and Cooper, Sandra T.
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- 2024
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6. Systematic analysis of SCN5A variants associated with inherited cardiac diseases
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Hermida, Alexis, Jedraszak, Guillaume, Ader, Flavie, Denjoy, Isabelle, Fressart, Véronique, Maury, Phillipe, Beyls, Christophe, Bloch, Adrien, Clerici, Gaël, Daire, Elise, Defaye, Pascal, Dupin-Deguine, Delphine, Garçon, Loic, Klug, Didier, Ginglinger, Emmanuelle, Hermida, Jean-Sylvain, Jesel, Laurence, Khraiche, Diala, Kubala, Maciej, Lacotte, Jérôme, Laredo, Mikael, Leenhardt, Antoine, Le Guillou, Xavier, Lesaffre, Francois, Maltret, Alice, Magnin-Poull, Isabelle, Marijon, Eloi, Nambot, Sophie, Neyroud, Nathalie, Ninni, Sandro, Palmyre, Aurélien, Pasquie, Jean Luc, Proukhnitzky, Julie, Reant, Patricia, Richard, Pascale, Rollin, Anne, Rooryck, Caroline, Sacher, Frédéric, Schaefer, Elise, Vernier, Agathe, Winum, Pierre-François, Wahbi, Karim, Waintraub, Xavier, Waldmann, Victor, Weber, Sacha, Zouaghi, Amir, Charron, Philippe, Extramiana, Fabrice, and Gandjbakhch, Estelle
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- 2024
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7. Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature
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Thomas, Quentin, Morgant, Marie-Catherine, Nambot, Sophie, Thauvin-Robinet, Christel, and Giroud, Maurice
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- 2023
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8. Patient satisfaction, experience and preferences in the implementation of genetics teleconsultations in the North-eastern region of France
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Lançon, Allan, Beaudouin, Amandine, Lambert, Laetitia, Baurand, Amandine, Petit, Estelle, Schaefer, Elise, Poirsier, Céline, Piard, Juliette, Patay, Léa, Garde, Aurore, Bournez, Marie, Bertolone, Geoffrey, Kastner, Claire, Tempé, Laurine, El Chehadeh, Salima, Spodenkiewick, Marta, Lissy, Lola, Doco-Fenzy, Martine, Cabrol, Christelle, Trouvé, Chloé, Brischoux, Elise Boucher, Cloteau, Mélanie, Burtin, Alexia, Renaud, Mathilde, Riviere, Axelle, Thomas, Quentin, De Souza, Clément Simao, Sawka, Caroline, Racine, Caroline, Robert, Marion, Gautier, Elodie, Delanne, Julian, Bertaut, Aurélie, Thauvin-Robinet, Christel, Faivre, Laurence, and Nambot, Sophie
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- 2023
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9. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
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Abrantes, Amandine, Aguilera Munoz, Lina, Albouys, Jérémie, Alric, Laurent, Amiot, Xavier, Archambeaud, Isabelle, Audiau, Solène, Bastide, Laetitia, Baudon, Julien, Bellaiche, Guy, Bellon, Serge, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Buscail, Louis, Cadiot, Guillaume, Camus, Marine, Causse, Xavier, Chamouard, Patrick, Chaput, Ulriikka, Cholet, Franck, Ciocan, Dragos Marius, Clavel, Christine, Coffin, Benoit, Coimet-Berger, Laura, Creveaux, Isabelle, Culetto, Adrian, Daboussi, Oussama, De Mestier, Louis, Degand, Thibault, D'Engremont, Christelle, Denis, Bernard, Dermine, Solène, Desgrippes, Romain, Drouet D'Aubigny, Augustin, Enaud, Raphaël, Fabre, Alexandre, Gargot, Dany, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Giovannini, Marc, Gomercic, Cécile, Gondran, Hannah, Grainville, Thomas, Grandval, Philippe, Grasset, Denis, Grimaldi, Stéphane, Grimbert, Sylvie, Hagege, Hervé, Heissat, Sophie, Hentic, Olivia, Herber-Mayne, Anne, Hervouet, Marc, Hoibian, Solene, Jacques, Jérémie, Jais, Bénédicte, Kaassis, Mehdi, Koch, Stéphane, Lacaze, Elodie, Lacroute, Joël, Lamireau, Thierry, Laurent, Lucie, Le Guillou, Xavier, Le Rhun, Marc, Leblanc, Sarah, Levy, Philippe, Lievre, Astrid, Lorenzo, Diane, Maire, Frédérique, Marcel, Kévin, Matias, Clément, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Nambot, Sophie, Napoleon, Bertrand, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pinard, Fabien, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Reboux, Noemi, Rekik, Samia, Riachi, Ghassan, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Rostain, Florian, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Texier, Charles, Thomassin, Lucie, Tougeron, David, Tsakiris, Laurent, Valats, Jean-Christophe, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Zanaldi, Hélène, Zerbib, Frank, Bai, Chen-Guang, Bian, Yun, Cai, Zhen-Zhai, Chang, Xiao-Yan, Chen, Guo-Dong, Cheng, Li, Chen, Yu, Guo, Jin-Tao, Guo, Tao, Han, Jun-Ling, He, Chao-Hui, Hu, Liang-Hao, Huang, Hao-Jie, Huang, Li, Huang, Li-Ya, Huang, Si-Lin, Huang, Wei, Jiang, Fei, Jiang, Hui, Lu, Feng-Chun, Lu, Guo-Tao, Lu, Zi-Peng, Li, Hui-Ping, Li, Jing, Li, Le, Li, Qiang, Li, Xiao-Yu, Lin, Qing, Lin, Yu-Li, Liu, Gai-Fang, Liu, Jie-Min, Liu, Li-Xin, Liu, Pi, Liu, Yi-Pin, Lu, Dong, Shao, Xiao-Dong, Shao, Zhuo, Song, Xu-Rui, Wang, Lei, Wang, Li-Juan, Wang, Li-Sheng, Wang, Lin, Wang, Wei, Wang, Zheng, Wen, Li, Wu, Xi, Xin, Lei, Xue, Jing, Yang, Hong, Yang, Jian-Feng, Yin, Tao, Zhang, Bei-Ping, Zhang, Guo-Wei, Zhang, Hong, Zhang, Rong-Chun, Zhao, Yi-Jun, Zhou, Si-Si, Zhu, Ke-Xiang, Masson, Emmanuelle, Zou, Wen-Bin, Pu, Na, Génin, Emmanuelle, Wu, Hao, Lin, Jin-Huan, Wang, Yuan-Chen, Li, Zhao-Shen, Cooper, David N., Férec, Claude, Liao, Zhuan, and Chen, Jian-Min
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- 2023
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10. Reply to Hsueh YP et al.
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Nambot, Sophie, Hevner, Robert F, and Dobyns, William B
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Biological Sciences ,Biomedical and Clinical Sciences ,Clinical Sciences ,Genetics ,Autistic Disorder ,Humans ,Phenotype ,Genetics & Heredity ,Clinical sciences - Published
- 2020
11. Widening of the genetic and clinical spectrum of Lamb–Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency
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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, Daphné, Nambot, Sophie, Moutton, Sébastien, Odent, Sylvie, Jaillard, Sylvie, Dubourg, Christèle, 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, Mariëtte JV, 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, Cogné, Benjamin, Kuechler, Alma, Piton, Amélie, Klee, Eric W, Lefebvre, Véronique, Clark, Karl J, and Depienne, Christel
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Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Genetics ,Brain Disorders ,Clinical Research ,Rare Diseases ,Human Genome ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Adult ,Animals ,Child ,Child ,Preschool ,DNA-Binding Proteins ,Female ,Genetic Predisposition to Disease ,Haploinsufficiency ,Humans ,Infant ,Intellectual Disability ,Language Development Disorders ,Male ,Mutation ,Missense ,Neurodevelopmental Disorders ,Pedigree ,Phenotype ,SOXD Transcription Factors ,Young Adult ,autism ,developmental delay ,intellectual disability ,epilepsy ,missense variants ,Deciphering Developmental DisorderStudy ,missense variants. ,Clinical Sciences ,Genetics & Heredity - Abstract
PurposeLamb-Shaffer syndrome (LAMSHF) is a neurodevelopmental disorder described in just over two dozen patients with heterozygous genetic alterations involving SOX5, a gene encoding a transcription factor regulating cell fate and differentiation in neurogenesis and other discrete developmental processes. The genetic alterations described so far are mainly microdeletions. The present study was aimed at increasing our understanding of LAMSHF, its clinical and genetic spectrum, and the pathophysiological mechanisms involved.MethodsClinical and genetic data were collected through GeneMatcher and clinical or genetic networks for 41 novel patients harboring various types ofSOX5 alterations. Functional consequences of selected substitutions were investigated.ResultsMicrodeletions and truncating variants occurred throughout SOX5. In contrast, most missense variants clustered in the pivotal SOX-specific high-mobility-group domain. The latter variants prevented SOX5 from binding DNA and promoting transactivation in vitro, whereas missense variants located outside the high-mobility-group domain did not. Clinical manifestations and severity varied among patients. No clear genotype-phenotype correlations were found, except that missense variants outside the high-mobility-group domain were generally better tolerated.ConclusionsThis study extends the clinical and genetic spectrum associated with LAMSHF and consolidates evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features.
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- 2020
12. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Abbott, Kristin M., Banka, Siddharth, de Boer, Elke, Ciolfi, Andrea, Clayton-Smith, Jill, Dallapiccola, Bruno, Denommé-Pichon, Anne-Sophie, Faivre, Laurence, Gilissen, Christian, Haack, Tobias B., Havlovicova, Marketa, Hoischen, Alexander, Jackson, Adam, Kerstjens, Mieke, Kleefstra, Tjitske, Martín, Estrella López, Macek, Milan, Jr., Matalonga, Leslie, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Pizzi, Simone, Posada, Manuel, Radio, Francesca C., Renieri, Alessandra, Riess, Olaf, Rooryck, Caroline, Ryba, Lukas, Agathe, Jean-Madeleine de Sainte, Santen, Gijs W.E., Schwarz, Martin, Tartaglia, Marco, Thauvin, Christel, Torella, Annalaura, Trimouille, Aurélien, Verloes, Alain, Vissers, Lisenka, Vitobello, Antonio, Votypka, Pavel, Zguro, Kristina, Boer, Elke de, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B.A.W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Graessner, Holm, Zurek, Birte, Ellwanger, Kornelia, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, ‘t Hoen, Peter A.C., Vissers, Lisenka E.L.M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Duffourd, Yannis, Bruel, Ange-Line, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Lišková, Petra, Doležalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Başak, Ayşe Nazlı, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A.L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Radio, Francesca Clementina, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Fallerini, Chiara, Benetti, Elisa, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Jean-Marçais, Nolwenn, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, Pfundt, Rolph, Safraou, Hana, Thauvin-Robinet, Christel, Thevenon, Julien, Tran Mau-Them, Frédéric, de Vries, Bert B.A., Willemsen, Marjolein H., and Philippe, Christophe
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- 2023
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13. Association and performance of polygenic risk scores for breast cancer among French women presenting or not a familial predisposition to the disease
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Jiao, Yue, Truong, Thérèse, Eon-Marchais, Séverine, Mebirouk, Noura, Caputo, Sandrine M., Dondon, Marie-Gabrielle, Karimi, Mojgan, Le Gal, Dorothée, Beauvallet, Juana, Le Floch, Édith, Dandine-Roulland, Claire, Bacq-Daian, Delphine, Olaso, Robert, Albuisson, Juliette, Audebert-Bellanger, Séverine, Berthet, Pascaline, Bonadona, Valérie, Buecher, Bruno, Caron, Olivier, Cavaillé, Mathias, Chiesa, Jean, Colas, Chrystelle, Collonge-Rame, Marie-Agnès, Coupier, Isabelle, Delnatte, Capucine, De Pauw, Antoine, Dreyfus, Hélène, Fert-Ferrer, Sandra, Gauthier-Villars, Marion, Gesta, Paul, Giraud, Sophie, Gladieff, Laurence, Golmard, Lisa, Lasset, Christine, Lejeune-Dumoulin, Sophie, Léoné, Mélanie, Limacher, Jean-Marc, Lortholary, Alain, Luporsi, Élisabeth, Mari, Véronique, Maugard, Christine M., Mortemousque, Isabelle, Mouret-Fourme, Emmanuelle, Nambot, Sophie, Noguès, Catherine, Popovici, Cornel, Prieur, Fabienne, Pujol, Pascal, Sevenet, Nicolas, Sobol, Hagay, Toulas, Christine, Uhrhammer, Nancy, Vaur, Dominique, Venat, Laurence, Boland-Augé, Anne, Guénel, Pascal, Deleuze, Jean-François, Stoppa-Lyonnet, Dominique, Andrieu, Nadine, and Lesueur, Fabienne
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- 2023
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14. Same performance of exome sequencing before and after fetal autopsy for congenital abnormalities: toward a paradigm shift in prenatal diagnosis?
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Bourgon, Nicolas, Garde, Aurore, Bruel, Ange-Line, Lefebvre, Mathilde, Mau-Them, Frederic Tran, Moutton, Sebastien, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Chevarin, Martin, Pöe, Charlotte, Thevenon, Julien, Lehalle, Daphné, Jean-Marçais, Nolween, Kuentz, Paul, Lambert, Laetitia, El Chehadeh, Salima, Schaefer, Elise, Willems, Marjolaine, Laffargue, Fanny, Francannet, Christine, Fradin, Mélanie, 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, and Thauvin-Robinet, Christel
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- 2022
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15. ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
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Vitobello, Antonio, Mazel, Benoit, Lelianova, Vera G., Zangrandi, Alice, Petitto, Evelina, Suckling, Jason, Salpietro, Vincenzo, Meyer, Robert, Elbracht, Miriam, Kurth, Ingo, Eggermann, Thomas, Benlaouer, Ouafa, Lall, Gurprit, Tonevitsky, Alexander G., Scott, Daryl A., Chan, Katie M., Rosenfeld, Jill A., Nambot, Sophie, Safraou, Hana, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Guo, Hui, Petersen, Andrea K., Granger, Leslie, Crunk, Amy, Bayat, Allan, Striano, Pasquale, Zara, Federico, Scala, Marcello, Thomas, Quentin, Delahaye, Andrée, de Sainte Agathe, Jean-Madeleine, Buratti, Julien, Kozlov, Serguei V., Faivre, Laurence, Thauvin-Robinet, Christel, and Ushkaryov, Yuri
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- 2022
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16. Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications
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Rosenhahn, Erik, O’Brien, Thomas J., Zaki, Maha S., Sorge, Ina, Wieczorek, Dagmar, Rostasy, Kevin, Vitobello, Antonio, Nambot, Sophie, Alkuraya, Fowzan S., Hashem, Mais O., Alhashem, Amal, Tabarki, Brahim, Alamri, Abdullah S., Al Safar, Ayat H., Bubshait, Dalal K., Alahmady, Nada F., Gleeson, Joseph G., Abdel-Hamid, Mohamed S., Lesko, Nicole, Ygberg, Sofia, Correia, Sandrina P., Wredenberg, Anna, Alavi, Shahryar, Seyedhassani, Seyed M., Ebrahimi Nasab, Mahya, Hussien, Haytham, Omar, Tarek E.I., Harzallah, Ines, Touraine, Renaud, Tajsharghi, Homa, Morsy, Heba, Houlden, Henry, Shahrooei, Mohammad, Ghavideldarestani, Maryam, Abdel-Salam, Ghada M.H., Torella, Annalaura, Zanobio, Mariateresa, Terrone, Gaetano, Brunetti-Pierri, Nicola, Omrani, Abdolmajid, Hentschel, Julia, Lemke, Johannes R., Sticht, Heinrich, Abou Jamra, Rami, Brown, Andre E.X., Maroofian, Reza, and Platzer, Konrad
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- 2022
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17. Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network
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Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Olaso, Robert, Ziegler, Alban, Jeanne, Médéric, Tran Mau-Them, Frédéric, Couturier, Victor, Racine, Caroline, Isidor, Bertrand, Poë, Charlotte, Jouan, Thibaud, Boland, Anne, Fin, Bertrand, Bacq-Daian, Delphine, Besse, Céline, Garde, Aurore, Prost, Adeline, Garret, Philippine, Tisserant, Émilie, Delanne, Julian, Nambot, Sophie, Juven, Aurélien, Gorce, Magali, Nizon, Mathilde, Vincent, Marie, Moutton, Sébastien, Fradin, Mélanie, Lavillaureix, Alinoë, Rollier, Paul, Capri, Yline, Van-Gils, Julien, Busa, Tiffany, Sigaudy, Sabine, Pasquier, Laurent, Barth, Magalie, Bruel, Ange-Line, Flamant, Cyril, Prouteau, Clément, Bonneau, Dominique, Toutain, Annick, Chantegret, Corinne, Callier, Patrick, Philippe, Christophe, Duffourd, Yannis, Deleuze, Jean-François, Sorlin, Arthur, Faivre, Laurence, and Thauvin-Robinet, Christel
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- 2022
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18. A novel POLD1 pathogenic variant identified in two families with a cancer spectrum mimicking Lynch syndrome
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Legrand, Clémentine, Lebrun, Marine, Naïbo, Pierre, Peysselon, Magalie, Prieur, Fabienne, Kientz, Caroline, Desseigne, Françoise, Handallou, Sandrine, Rey, Jean-Marc, Nambot, Sophie, Goussot, Vincent, Hamzaoui, Nadim, and Wang, Qing
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- 2022
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19. Copy number variants as modifiers of breast cancer risk for BRCA1/BRCA2 pathogenic variant carriers
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Hakkaart, Christopher, Pearson, John F., Marquart, Louise, Dennis, Joe, Wiggins, George A. R., Barnes, Daniel R., Robinson, Bridget A., Mace, Peter D., Aittomäki, Kristiina, Andrulis, Irene L., Arun, Banu K., Azzollini, Jacopo, Balmaña, Judith, Barkardottir, Rosa B., Belhadj, Sami, Berger, Lieke, Blok, Marinus J., Boonen, Susanne E., Borde, Julika, Bradbury, Angela R., Brunet, Joan, Buys, Saundra S., Caligo, Maria A., Campbell, Ian, Chung, Wendy K., Claes, Kathleen B. M., Collonge-Rame, Marie-Agnès, Cook, Jackie, Cosgrove, Casey, Couch, Fergus J., Daly, Mary B., Dandiker, Sita, Davidson, Rosemarie, de la Hoya, Miguel, de Putter, Robin, Delnatte, Capucine, Dhawan, Mallika, Diez, Orland, Ding, Yuan Chun, Domchek, Susan M., Donaldson, Alan, Eason, Jacqueline, Easton, Douglas F., Ehrencrona, Hans, Engel, Christoph, Evans, D. Gareth, Faust, Ulrike, Feliubadaló, Lidia, Fostira, Florentia, Friedman, Eitan, Frone, Megan, Frost, Debra, Garber, Judy, Gayther, Simon A., Gehrig, Andrea, Gesta, Paul, Godwin, Andrew K., Goldgar, David E., Greene, Mark H., Hahnen, Eric, Hake, Christopher R., Hamann, Ute, Hansen, Thomas V. O., Hauke, Jan, Hentschel, Julia, Herold, Natalie, Honisch, Ellen, Hulick, Peter J., Imyanitov, Evgeny N., Isaacs, Claudine, Izatt, Louise, Izquierdo, Angel, Jakubowska, Anna, James, Paul A., Janavicius, Ramunas, John, Esther M., Joseph, Vijai, Karlan, Beth Y., Kemp, Zoe, Kirk, Judy, Konstantopoulou, Irene, Koudijs, Marco, Kwong, Ava, Laitman, Yael, Lalloo, Fiona, Lasset, Christine, Lautrup, Charlotte, Lazaro, Conxi, Legrand, Clémentine, Leslie, Goska, Lesueur, Fabienne, Mai, Phuong L., Manoukian, Siranoush, Mari, Véronique, Martens, John W. M., McGuffog, Lesley, Mebirouk, Noura, Meindl, Alfons, Miller, Austin, Montagna, Marco, Moserle, Lidia, Mouret-Fourme, Emmanuelle, Musgrave, Hannah, Nambot, Sophie, Nathanson, Katherine L., Neuhausen, Susan L., Nevanlinna, Heli, Yie, Joanne Ngeow Yuen, Nguyen-Dumont, Tu, Nikitina-Zake, Liene, Offit, Kenneth, Olah, Edith, Olopade, Olufunmilayo I., Osorio, Ana, Ott, Claus-Eric, Park, Sue K., Parsons, Michael T., Pedersen, Inge Sokilde, Peixoto, Ana, Perez-Segura, Pedro, Peterlongo, Paolo, Pocza, Timea, Radice, Paolo, Ramser, Juliane, Rantala, Johanna, Rodriguez, Gustavo C., Rønlund, Karina, Rosenberg, Efraim H., Rossing, Maria, Schmutzler, Rita K., Shah, Payal D., Sharif, Saba, Sharma, Priyanka, Side, Lucy E., Simard, Jacques, Singer, Christian F., Snape, Katie, Steinemann, Doris, Stoppa-Lyonnet, Dominique, Sutter, Christian, Tan, Yen Yen, Teixeira, Manuel R., Teo, Soo Hwang, Thomassen, Mads, Thull, Darcy L., Tischkowitz, Marc, Toland, Amanda E., Trainer, Alison H., Tripathi, Vishakha, Tung, Nadine, van Engelen, Klaartje, van Rensburg, Elizabeth J., Vega, Ana, Viel, Alessandra, Walker, Lisa, Weitzel, Jeffrey N., Wevers, Marike R., Chenevix-Trench, Georgia, Spurdle, Amanda B., Antoniou, Antonis C., and Walker, Logan C.
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- 2022
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20. A New Presenilin-1 Missense Variant Associated With a Progressive Supranuclear Palsy-like Phenotype
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Thomas, Quentin, Nambot, Sophie, Béjot, Yannick, Philippe, Christophe, Faivre, Laurence, Duffourd, Yannis, Thauvin-Robinet, Christel, and Dupont, Gwendoline
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- 2023
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21. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss-of-function variants
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Genetica, Genetica Klinische Genetica, Circulatory Health, Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau-Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman-Keemink, Yvonne, Hoffer, Mariette J.V., Lakeman, Inge M.M., Brischoux-Boucher, Elise, Kinali, Maria, Zhao, Xiaonan, Lalani, Seema R., Scott, Daryl A., Genetica, Genetica Klinische Genetica, Circulatory Health, Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau-Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman-Keemink, Yvonne, Hoffer, Mariette J.V., Lakeman, Inge M.M., Brischoux-Boucher, Elise, Kinali, Maria, Zhao, Xiaonan, Lalani, Seema R., and Scott, Daryl A.
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- 2024
22. The detection of a strong episignature for Chung-Jansen syndrome, partially overlapping with Börjeson-Forssman-Lehmann and White-Kernohan syndromes
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Genetica Klinische Genetica, Cancer, Child Health, Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, van Haelst, Mieke M, Genetica Klinische Genetica, Cancer, Child Health, Vos, Niels, Haghshenas, Sadegheh, van der Laan, Liselot, Russel, Perle K M, Rooney, Kathleen, Levy, Michael A, Relator, Raissa, Kerkhof, Jennifer, McConkey, Haley, Maas, Saskia M, Vissers, Lisenka E L M, de Vries, Bert B A, Pfundt, Rolph, Elting, Mariet W, van Hagen, Johanna M, Verbeek, Nienke E, Jongmans, Marjolijn C J, Lakeman, Phillis, Rumping, Lynne, Bosch, Danielle G M, Vitobello, Antonio, Thauvin-Robinet, Christel, Faivre, Laurence, Nambot, Sophie, Garde, Aurore, Willems, Marjolaine, Genevieve, David, Nicolas, Gaël, Busa, Tiffany, Toutain, Annick, Gérard, Marion, Bizaoui, Varoona, Isidor, Bertrand, Merla, Giuseppe, Accadia, Maria, Schwartz, Charles E, Ounap, Katrin, Hoffer, Mariëtte J V, Nezarati, Marjan M, van den Boogaard, Marie-José H, Tedder, Matthew L, Rogers, Curtis, Brusco, Alfredo, Ferrero, Giovanni B, Spodenkiewicz, Marta, Sidlow, Richard, Mussa, Alessandro, Trajkova, Slavica, McCann, Emma, Mroczkowski, Henry J, Jansen, Sandra, Donker-Kaat, Laura, Duijkers, Floor A M, Stuurman, Kyra E, Mannens, Marcel M A M, Alders, Mariëlle, Henneman, Peter, White, Susan M, Sadikovic, Bekim, and van Haelst, Mieke M
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- 2024
23. Validation of the BOADICEA model in a prospective cohort of BRCA1/2 pathogenic variant carriers.
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Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, EMBRACE Collaborators, Epi Kanker Team A, Cancer, JC onderzoeksprogramma Kanker, Genetica Klinische Genetica, Yang, Xin, Mooij, Thea M, Leslie, Goska, Ficorella, Lorenzo, Andrieu, Nadine, Kast, Karin, Singer, Christian F, Jakubowska, Anna, van Gils, Carla H, Tan, Yen Y, Engel, Christoph, Adank, Muriel A, van Asperen, Christi J, Ausems, Margreet G E M, Berthet, Pascaline, Collee, Margriet J, Cook, Jackie A, Eason, Jacqueline, Spaendonck-Zwarts, Karin Y van, Evans, D Gareth, Gómez García, Encarna B, Hanson, Helen, Izatt, Louise, Kemp, Zoe, Lalloo, Fiona, Lasset, Christine, Lesueur, Fabienne, Musgrave, Hannah, Nambot, Sophie, Noguès, Catherine, Oosterwijk, Jan C, Stoppa-Lyonnet, Dominique, Tischkowitz, Marc, Tripathi, Vishakha, Wevers, Marijke R, Zhao, Emily, van Leeuwen, Flora E, Schmidt, Marjanka K, Easton, Douglas F, Rookus, Matti A, Antoniou, Antonis C, and EMBRACE Collaborators
- Published
- 2024
24. Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
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Malbos, Marlène, primary, Wakeling, Emma, additional, Gautier, Thierry, additional, Boespflug‐Tanguy, Odile, additional, Busby, Louise, additional, Taylor‐Miller, Tashunka, additional, Dudoignon, Benjamin, additional, Bokov, Plamen, additional, Govin, Jérôme, additional, Grisval, Margot, additional, Rega, Adélaïde, additional, Mourot De Rougemont, Marie‐Gabrielle, additional, Aubriot‐Lorton, Marie‐Hélène, additional, Darmency, Véronique, additional, Bensignor, Candace, additional, Houzel, Anne, additional, Huet, Frédéric, additional, Denommé‐Pichon, Anne‐Sophie, additional, Delanne, Julian, additional, Tran Mau‐Them, Frédéric, additional, Bruel, Ange‐Line, additional, Safraou, Hana, additional, Nambot, Sophie, additional, Garde, Aurore, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, Vitobello, Antonio, additional, Faivre, Laurence, additional, and Thauvin‐Robinet, Christel, additional
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- 2024
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25. Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed developmental disorders
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Tran Mau-Them, Frederic, Moutton, Sebastien, Racine, Caroline, Vitobello, Antonio, Bruel, Ange-Line, Nambot, Sophie, Kushner, Steven A., de Vrij, Femke M. S., Lehalle, Daphné, Jean-Marçais, Nolwenn, Lecoquierre, François, Delanne, Julian, Thevenon, Julien, Poe, Charlotte, Jouan, Thibaut, Chevarin, Martin, Geneviève, David, Willems, Marjolaine, Coubes, Christine, Houcinat, Nada, Masurel-Paulet, Alice, Mosca-Boidron, Anne-Laure, Tisserant, Emilie, Callier, Patrick, Sorlin, Arthur, Duffourd, Yannis, Faivre, Laurence, Philippe, Christophe, and Thauvin-Robinet, Christel
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- 2020
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26. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
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Juven, Aurélien, Nambot, Sophie, Piton, Amélie, Jean-Marçais, Nolwenn, Masurel, Alice, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Kuentz, Paul, Philippe, Christophe, Chevarin, Martin, Duffourd, Yannis, Gautier, Elodie, Munnich, Arnold, Rio, Marlène, Rondeau, Sophie, El Chehadeh, Salima, Schaefer, Élise, Gérard, Bénédicte, Bouquillon, Sonia, Delorme, Catherine Vincent, Francannet, Christine, Laffargue, Fanny, Gouas, Laetitia, Isidor, Bertrand, Vincent, Marie, Blesson, Sophie, Giuliano, Fabienne, Pichon, Olivier, Le Caignec, Cédric, Journel, Hubert, Perrin-Sabourin, Laurence, Fabre-Teste, Jennifer, Martin, Dominique, Vieville, Gaelle, Dieterich, Klaus, Lacombe, Didier, Denommé-Pichon, Anne-Sophie, Thauvin-Robinet, Christel, and Faivre, Laurence
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- 2020
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27. Exome sequencing in the etiologic assessment of the stroke of the young
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Mania-Pâris, Loraine, primary, Thomas, Quentin, additional, Vitobello, Antonio, additional, Mau-Them, Frédéric Tran, additional, Duffourd, Yannis, additional, Graber, Mathilde, additional, Hervieu-Begue, Marie, additional, Osseby, Guy Victor, additional, Mohr, Sophie, additional, Labarre, Christelle Blanc, additional, Nambot, Sophie, additional, Bruel, Ange-Line, additional, Denomme-Pichon, Anne-Sophie, additional, Thauvin-Robinet, Christel, additional, Olivier-Faivre, Laurence, additional, and Bejot, Yannick, additional
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- 2023
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28. Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders
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Husson, Thomas, primary, Lecoquierre, François, additional, Nicolas, Gaël, additional, Richard, Anne-Claire, additional, Afenjar, Alexandra, additional, Audebert-Bellanger, Séverine, additional, Badens, Catherine, additional, Bilan, Frédéric, additional, Bizaoui, Varoona, additional, Boland, Anne, additional, Bonnet-Dupeyron, Marie-Noëlle, additional, Brischoux-Boucher, Elise, additional, Bonnet, Céline, additional, Bournez, Marie, additional, Boute, Odile, additional, Brunelle, Perrine, additional, Caumes, Roseline, additional, Charles, Perrine, additional, Chassaing, Nicolas, additional, Chatron, Nicolas, additional, Cogné, Benjamin, additional, Colin, Estelle, additional, Cormier-Daire, Valérie, additional, Dard, Rodolphe, additional, Dauriat, Benjamin, additional, Delanne, Julian, additional, Deleuze, Jean-François, additional, Demurger, Florence, additional, Denommé-Pichon, Anne-Sophie, additional, Depienne, Christel, additional, Dieux, Anne, additional, Dubourg, Christèle, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Faivre, Laurence, additional, Fergelot, Patricia, additional, Fradin, Mélanie, additional, Garde, Aurore, additional, Geneviève, David, additional, Gilbert-Dussardier, Brigitte, additional, Goizet, Cyril, additional, Goldenberg, Alice, additional, Gouy, Evan, additional, Guerrot, Anne-Marie, additional, Guimier, Anne, additional, Harzalla, Inès, additional, Héron, Delphine, additional, Isidor, Bertrand, additional, Lacombe, Didier, additional, Le Guillou Horn, Xavier, additional, Keren, Boris, additional, Kuechler, Alma, additional, Lacaze, Elodie, additional, Lavillaureix, Alinoë, additional, Lehalle, Daphné, additional, Lesca, Gaëtan, additional, Lespinasse, James, additional, Levy, Jonathan, additional, Lyonnet, Stanislas, additional, Morel, Godeliève, additional, Jean-Marçais, Nolwenn, additional, Marlin, Sandrine, additional, Marsili, Luisa, additional, Mignot, Cyril, additional, Nambot, Sophie, additional, Nizon, Mathilde, additional, Olaso, Robert, additional, Pasquier, Laurent, additional, Perrin, Laurine, additional, Petit, Florence, additional, Pingault, Veronique, additional, Piton, Amélie, additional, Prieur, Fabienne, additional, Putoux, Audrey, additional, Planes, Marc, additional, Odent, Sylvie, additional, Quélin, Chloé, additional, Quemener-Redon, Sylvia, additional, Rama, Mélanie, additional, Rio, Marlène, additional, Rossi, Massimiliano, additional, Schaefer, Elise, additional, Rondeau, Sophie, additional, Saugier-Veber, Pascale, additional, Smol, Thomas, additional, Sigaudy, Sabine, additional, Touraine, Renaud, additional, Mau-Them, Frederic Tran, additional, Trimouille, Aurélien, additional, Van Gils, Julien, additional, Vanlerberghe, Clémence, additional, Vantalon, Valérie, additional, Vera, Gabriella, additional, Vincent, Marie, additional, Ziegler, Alban, additional, Guillin, Olivier, additional, Campion, Dominique, additional, and Charbonnier, Camille, additional
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- 2023
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29. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants
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Sewani, Soha, primary, Azamian, Mahshid S., additional, Mendelsohn, Bryce A., additional, Mau‐Them, Frederic Tran, additional, Réda, Manon, additional, Nambot, Sophie, additional, Isidor, Bertrand, additional, van der Smagt, Jasper J., additional, Shen, Joseph J., additional, Shillington, Amelle, additional, White, Lori, additional, Elloumi, Houda Zghal, additional, Baker, Peter R., additional, Svihovec, Shayna, additional, Brown, Kathleen, additional, Koopman‐Keemink, Yvonne, additional, Hoffer, Mariette J. V., additional, Lakeman, Inge M. M., additional, Brischoux‐Boucher, Elise, additional, Kinali, Maria, additional, Zhao, Xiaonan, additional, Lalani, Seema R., additional, and Scott, Daryl A., additional
- Published
- 2023
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30. Targeted RNAseq from patients’ urinary cells to validate pathogenic noncoding variants in autosomal dominant polycystic kidney disease genes: a proof of concept
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Dorval, Guillaume, Le Gac, Gérald, Morinière, Vincent, Ka, Chandran, Goursaud, Claire, Knebelmann, Bertrand, Marijon, Pierre, Nambot, Sophie, Cagnard, Nicolas, Nitschké, Patrick, Michel-Calemard, Laurence, Audrézet, Marie-Pierre, and Heidet, Laurence
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- 2024
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31. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
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Thauvin-Robinet, Christel, Thevenon, Julien, Nambot, Sophie, Delanne, Julian, Kuentz, Paul, Bruel, Ange-Line, Chassagne, Aline, Cretin, Elodie, Pelissier, Aurore, Peyron, Chritine, Gautier, Elodie, Lehalle, Daphné, Jean-Marçais, Nolwenn, Callier, Patrick, Mosca-Boidron, Anne-Laure, Vitobello, Antonio, Sorlin, Arthur, Tran Mau-Them, Frédéric, Philippe, Christophe, Vabres, Pierre, Demougeot, Laurent, Poé, Charlotte, Jouan, Thibaud, Chevarin, Martin, Lefebvre, Mathilde, Bardou, Marc, Tisserant, Emilie, Luu, Maxime, Binquet, Christine, Deleuze, Jean-François, Verstuyft, Céline, Duffourd, Yannis, and Faivre, Laurence
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- 2019
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32. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases
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Bruel, Ange-Line, Vitobello, Antonio, Mau-Them, Frédéric Tran, Nambot, Sophie, Duffourd, Yannis, Quéré, Virginie, Kuentz, Paul, Garret, Philippine, Thevenon, Julien, Moutton, Sébastien, Lehalle, Daphné, Jean-Marçais, Nolwenn, Orphanomix Physicians’ Group, Garde, Aurore, Delanne, Julian, Lefebvre, Mathilde, Lecoquierre, François, Trost, Detlef, Cho, Megan, Begtrup, Amber, Telegrafi, Aida, Vabres, Pierre, Mosca-Boidron, Anne-Laure, Callier, Patrick, Philippe, Christophe, Faivre, Laurence, and Thauvin-Robinet, Christel
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- 2019
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33. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
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Picketts, David, primary, Mirzaa, Ghayda, additional, Yan, Keqin, additional, Relator, Raissa, additional, Timpano, Sara, additional, Yalcin, Binnaz, additional, Collins, Stephan, additional, Ziegler, Alban, additional, Pao, Emily, additional, Oyama, Nora, additional, Brischoux-Boucher, Elise, additional, PIARD, Juliette, additional, Monaghan, Kristin, additional, Sacoto, Maria Guillen, additional, Dobyns, William, additional, Park, Kristen, additional, Fernández-Mayoralas, Daniel, additional, Fernández-Jaén, Alberto, additional, Jayakar, Parul, additional, Brusco, Alfredo, additional, Antona, Vincenzo, additional, Giorgio, Elisa, additional, Kvarnung, Malin, additional, Isidor, Bertrand, additional, Conrad, Solène, additional, Cogné, Benjamin, additional, Deb, Wallid, additional, Stuurman, K.E., additional, Sterbova, Katalin, additional, Smal, Noor, additional, Weckhuysen, Sarah, additional, Oegema, Renske, additional, Innes, Micheil, additional, Latsko, Maeson, additional, Ben-Omran, Tawfeg, additional, Yeh, Rebecca, additional, Kruer, Michael, additional, Bakhtiari, Somayeh, additional, Papavasiliou, Antigone, additional, Moutton, Sébastien, additional, Nambot, Sophie, additional, Chanprasert, Sirisak, additional, Paolucci, Sarah, additional, Miller, Kait, additional, Burton, Barbara, additional, Kim, Katherine, additional, O'Heir, Emily, additional, Bruwer, Zandre, additional, Donald, Kirsten, additional, Kleefstra, Tjitske, additional, Goldstein, Amy, additional, Angle, Brad, additional, Bontempo, Kelly, additional, Miny, Peter, additional, Joset, Pascal, additional, Demurger, Florence, additional, Hobson, Emma, additional, Pang, Lewis, additional, Carpenter, Lori, additional, Li, Dong, additional, Bonneau, Dominique, additional, and Sadikovic, Bekim, additional
- Published
- 2023
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34. Advancing precision oncology through systematic germline and tumor genetic analysis: The oncogenetic point of view on findings from a prospective multicenter clinical trial of 666 patients
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Mazel, Benoit, primary, Bertolone, Geoffrey, additional, Baurand, Amandine, additional, Cosset, Elodie, additional, Sawka, Caroline, additional, Robert, Marion, additional, Gautier, Elodie, additional, Lançon, Allan, additional, Réda, Manon, additional, Favier, Laure, additional, Dérangère, Valentin, additional, Richard, Corentin, additional, Binquet, Christine, additional, Boidot, Romain, additional, Goussot, Vincent, additional, Albuisson, Juliette, additional, Ghiringhelli, François, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional
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- 2023
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35. Low risk of embryonic and other cancers in PIK3CA‐related overgrowth spectrum: Impact on screening recommendations
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Faivre, Laurence, primary, Crépin, Jean‐Charles, additional, Réda, Manon, additional, Nambot, Sophie, additional, Carmignac, Virginie, additional, Abadie, Caroline, additional, Mirault, Tristan, additional, Faure‐Conter, Cécile, additional, Mazereeuw‐Hautier, Juliette, additional, Maza, Aude, additional, Puzenat, Eve, additional, Collonge‐Rame, Marie‐Agnès, additional, Bursztejn, Anne‐Claire, additional, Philippe, Christophe, additional, Thauvin‐Robinet, Christel, additional, Chevarin, Martin, additional, Abasq‐Thomas, Claire, additional, Amiel, Jeanne, additional, Arpin, Stéphanie, additional, Barbarot, Sébastien, additional, Baujat, Geneviève, additional, Bessis, Didier, additional, Bourrat, Emmanuelle, additional, Boute, Odile, additional, Chassaing, Nicolas, additional, Coubes, Christine, additional, Demeer, Bénédicte, additional, Edery, Patrick, additional, El Chehadeh, Salima, additional, Goldenberg, Alice, additional, Hadj‐Rabia, Smail, additional, Haye, Damien, additional, Isidor, Bertrand, additional, Jacquemont, Marie‐Line, additional, Van Kien, Philippe Khau, additional, Lacombe, Didier, additional, Lehalle, Daphné, additional, Lambert, Laetitia, additional, Martin, Ludovic, additional, Maruani, Annabel, additional, Morice‐Picard, Fanny, additional, Petit, Florence, additional, Phan, Alice, additional, Pinson, Lucile, additional, Rossi, Massimiliano, additional, Touraine, Renaud, additional, Vanlerberghe, Clémence, additional, Vincent, Marie, additional, Vincent‐Delorme, Catherine, additional, Whalen, Sandra, additional, Willems, Marjolaine, additional, Marle, Nathalie, additional, Verkarre, Virginie, additional, Devalland, Christine, additional, Devouassoux‐Shisheboran, Mojgan, additional, Abad, Marine, additional, Rioux‐Leclercq, Nathalie, additional, Bonniaud, Bertille, additional, Duffourd, Yannis, additional, Martel, Jehanne, additional, Binquet, Christine, additional, Kuentz, Paul, additional, and Vabres, Pierre, additional
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- 2023
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36. Classification of PRSS1 variants responsible for chronic pancreatitis: An expert perspective from the Franco-Chinese GREPAN Study Group
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Masson, Emmanuelle, primary, Zou, Wen-Bin, additional, Pu, Na, additional, Rebours, Vinciane, additional, Génin, Emmanuelle, additional, Wu, Hao, additional, Lin, Jin-Huan, additional, Wang, Yuan-Chen, additional, Li, Zhao-Shen, additional, Cooper, David N., additional, Férec, Claude, additional, Liao, Zhuan, additional, Chen, Jian-Min, additional, Abrantes, Amandine, additional, Aguilera Munoz, Lina, additional, Albouys, Jérémie, additional, Alric, Laurent, additional, Amiot, Xavier, additional, Archambeaud, Isabelle, additional, Audiau, Solène, additional, Bastide, Laetitia, additional, Baudon, Julien, additional, Bellaiche, Guy, additional, Bellon, Serge, additional, Bertrand, Valérie, additional, Bideau, Karine, additional, Billiemaz, Kareen, additional, Billioud, Claire, additional, Bonnefoy, Sabine, additional, Borderon, Corinne, additional, Bournet, Barbara, additional, Breton, Estelle, additional, Brugel, Mathias, additional, Buscail, Louis, additional, Cadiot, Guillaume, additional, Camus, Marine, additional, Causse, Xavier, additional, Chamouard, Patrick, additional, Chaput, Ulriikka, additional, Cholet, Franck, additional, Ciocan, Dragos Marius, additional, Clavel, Christine, additional, Coffin, Benoit, additional, Coimet-Berger, Laura, additional, Creveaux, Isabelle, additional, Culetto, Adrian, additional, Daboussi, Oussama, additional, De Mestier, Louis, additional, Degand, Thibault, additional, D'Engremont, Christelle, additional, Denis, Bernard, additional, Dermine, Solène, additional, Desgrippes, Romain, additional, Drouet D'Aubigny, Augustin, additional, Enaud, Raphaël, additional, Fabre, Alexandre, additional, Gargot, Dany, additional, Gelsi, Eve, additional, Gentilcore, Elena, additional, Gincul, Rodica, additional, Ginglinger-Favre, Emmanuelle, additional, Giovannini, Marc, additional, Gomercic, Cécile, additional, Gondran, Hannah, additional, Grainville, Thomas, additional, Grandval, Philippe, additional, Grasset, Denis, additional, Grimaldi, Stéphane, additional, Grimbert, Sylvie, additional, Hagege, Hervé, additional, Heissat, Sophie, additional, Hentic, Olivia, additional, Herber-Mayne, Anne, additional, Hervouet, Marc, additional, Hoibian, Solene, additional, Jacques, Jérémie, additional, Jais, Bénédicte, additional, Kaassis, Mehdi, additional, Koch, Stéphane, additional, Lacaze, Elodie, additional, Lacroute, Joël, additional, Lamireau, Thierry, additional, Laurent, Lucie, additional, Le Guillou, Xavier, additional, Le Rhun, Marc, additional, Leblanc, Sarah, additional, Levy, Philippe, additional, Lievre, Astrid, additional, Lorenzo, Diane, additional, Maire, Frédérique, additional, Marcel, Kévin, additional, Matias, Clément, additional, Mauillon, Jacques, additional, Morgant, Stéphanie, additional, Moussata, Driffa, additional, Muller, Nelly, additional, Nambot, Sophie, additional, Napoleon, Bertrand, additional, Olivier, Anne, additional, Pagenault, Maël, additional, Pelletier, Anne-laure, additional, Pennec, Olivier, additional, Pinard, Fabien, additional, Pioche, Mathieu, additional, Prost, Bénédicte, additional, Queneherve, Lucille, additional, Reboux, Noemi, additional, Rekik, Samia, additional, Riachi, Ghassan, additional, Rohmer, Barbara, additional, Roquelaure, Bertrand, additional, Rosa Hezode, Isabelle, additional, Rostain, Florian, additional, Saurin, Jean-Christophe, additional, Servais, Laure, additional, Stan-Iuga, Roxana, additional, Subtil, Clément, additional, Texier, Charles, additional, Thomassin, Lucie, additional, Tougeron, David, additional, Tsakiris, Laurent, additional, Valats, Jean-Christophe, additional, Vuitton, Lucine, additional, Wallenhorst, Timothée, additional, Wangerme, Marc, additional, Zanaldi, Hélène, additional, Zerbib, Frank, additional, Bai, Chen-Guang, additional, Bian, Yun, additional, Cai, Zhen-Zhai, additional, Chang, Xiao-Yan, additional, Chen, Guo-Dong, additional, Cheng, Li, additional, Chen, Yu, additional, Guo, Jin-Tao, additional, Guo, Tao, additional, Han, Jun-Ling, additional, He, Chao-Hui, additional, Hu, Liang-Hao, additional, Huang, Hao-Jie, additional, Huang, Li, additional, Huang, Li-Ya, additional, Huang, Si-Lin, additional, Huang, Wei, additional, Jiang, Fei, additional, Jiang, Hui, additional, Lu, Feng-Chun, additional, Lu, Guo-Tao, additional, Lu, Zi-Peng, additional, Li, Hui-Ping, additional, Li, Jing, additional, Li, Le, additional, Li, Qiang, additional, Li, Xiao-Yu, additional, Lin, Qing, additional, Lin, Yu-Li, additional, Liu, Gai-Fang, additional, Liu, Jie-Min, additional, Liu, Li-Xin, additional, Liu, Pi, additional, Liu, Yi-Pin, additional, Lu, Dong, additional, Shao, Xiao-Dong, additional, Shao, Zhuo, additional, Song, Xu-Rui, additional, Wang, Lei, additional, Wang, Li-Juan, additional, Wang, Li-Sheng, additional, Wang, Lin, additional, Wang, Wei, additional, Wang, Zheng, additional, Wen, Li, additional, Wu, Xi, additional, Xin, Lei, additional, Xue, Jing, additional, Yang, Hong, additional, Yang, Jian-Feng, additional, Yin, Tao, additional, Zhang, Bei-Ping, additional, Zhang, Guo-Wei, additional, Zhang, Hong, additional, Zhang, Rong-Chun, additional, Zhao, Yi-Jun, additional, Zhou, Si-Si, additional, and Zhu, Ke-Xiang, additional
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- 2023
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37. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses
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Bourchany, Aurélie, Thauvin-Robinet, Christel, Lehalle, Daphné, Bruel, Ange-Line, Masurel-Paulet, Alice, Jean, Nolwenn, Nambot, Sophie, Willems, Marjorie, Lambert, Laetitia, El Chehadeh-Djebbar, Salima, Schaefer, Elise, Jaquette, Aurélia, St-Onge, Judith, Poe, Charlotte, Jouan, Thibaud, Chevarin, Martin, Callier, Patrick, Mosca-Boidron, Anne-Laure, Laurent, Nicole, Lefebvre, Mathilde, Huet, Frédéric, Houcinat, Nada, Moutton, Sébastien, Philippe, Christophe, Tran-Mau-Them, Frédéric, Vitobello, Antonio, Kuentz, Paul, Duffourd, Yannis, Rivière, Jean-Baptiste, Thevenon, Julien, and Faivre, Laurence
- Published
- 2017
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38. Neurodevelopmental and other phenotypes recurrently associated with heterozygous BAZ2B loss‐of‐function variants.
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Sewani, Soha, Azamian, Mahshid S., Mendelsohn, Bryce A., Mau‐Them, Frederic Tran, Réda, Manon, Nambot, Sophie, Isidor, Bertrand, van der Smagt, Jasper J., Shen, Joseph J., Shillington, Amelle, White, Lori, Elloumi, Houda Zghal, Baker, Peter R., Svihovec, Shayna, Brown, Kathleen, Koopman‐Keemink, Yvonne, Hoffer, Mariette J. V., Lakeman, Inge M. M., Brischoux‐Boucher, Elise, and Kinali, Maria
- Abstract
The bromodomain adjacent to zinc finger 2B (BAZ2B) gene encodes a chromatin remodeling protein that has been shown to perform a variety of regulatory functions. It has been proposed that loss of BAZ2B function is associated with neurodevelopmental phenotypes, and some recurrent structural birth defects and dysmorphic features have been documented among individuals carrying heterozygous loss‐of‐function BAZ2B variants. However, additional evidence is needed to confirm that these phenotypes are attributable to BAZ2B deficiency. Here, we report 10 unrelated individuals with heterozygous deletions, stop‐gain, frameshift, missense, splice junction, indel, and start‐loss variants affecting BAZ2B. These included a paternal intragenic deletion and a maternal frameshift variant that were inherited from mildly affected or asymptomatic parents. The analysis of molecular and clinical data from this cohort, and that of individuals previously reported, suggests that BAZ2B haploinsufficiency causes an autosomal dominant neurodevelopmental syndrome that is incompletely penetrant. The phenotypes most commonly seen in association with loss of BAZ2B function include developmental delay, intellectual disability, autism spectrum disorder, speech delay—with some affected individuals being non‐verbal—behavioral abnormalities, seizures, vision‐related issues, congenital heart defects, poor fetal growth, and an indistinct pattern of dysmorphic features in which epicanthal folds and small ears are particularly common. [ABSTRACT FROM AUTHOR]
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- 2024
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39. Multiple molecular diagnoses in the field of intellectual disability and congenital anomalies: 3.5% of all positive cases.
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Racine, Caroline, Denommé-Pichon, Anne-Sophie, Engel, Camille, Mau-them, Frederic Tran, Bruel, Ange-Line, Vitobello, Antonio, Safraou, Hana, Sorlin, Arthur, Nambot, Sophie, Delanne, Julian, Garde, Aurore, Colin, Estelle, Moutton, Sébastien, Thevenon, Julien, Jean-Marçais, Nolwenn, Willems, Marjolaine, Geneviève, David, Pinson, Lucile, Perrin, Laurence, and Laffargue, Fanny
- Abstract
Purpose Wide access to clinical exome/genome sequencing (ES/GS) enables the identification of multiple molecular diagnoses (MMDs), being a long-standing but underestimated concept, defined by two or more causal loci implicated in the phenotype of an individual with a rare disease. Only few series report MMDs rates (1.8% to 7.1%). This study highlights the increasing role of MMDs in a large cohort of individuals addressed for congenital anomalies/intellectual disability (CA/ID). Methods From 2014 to 2021, our diagnostic laboratory rendered 880/2658 positive ES diagnoses for CA/ID aetiology. Exhaustive search on MMDs from ES data was performed prospectively (January 2019 to December 2021) and retrospectively (March 2014 to December 2018). Results MMDs were identified in 31/880 individuals (3.5%), responsible for distinct (9/31) or overlapping (22/31) phenotypes, and potential MMDs in 39/880 additional individuals (4.4%). Conclusion MMDs are frequent in CA/ID and remain a strong challenge. Reanalysis of positive ES data appears essential when phenotypes are partially explained by the initial diagnosis or atypically enriched overtime. Upto-date clinical data, clinical expertise from the referring physician, strong interactions between clinicians and biologists, and increasing gene discoveries and improved ES bioinformatics tools appear all the more fundamental to enhance chances of identifying MMDs. It is essential to provide appropriate patient care and genetic counselling. [ABSTRACT FROM AUTHOR]
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- 2024
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40. Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
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Tran Mau-Them, Frédéric, primary, Overs, Alexis, additional, Bruel, Ange-Line, additional, Duquet, Romain, additional, Thareau, Mylene, additional, Denommé-Pichon, Anne-Sophie, additional, Vitobello, Antonio, additional, Sorlin, Arthur, additional, Safraou, Hana, additional, Nambot, Sophie, additional, Delanne, Julian, additional, Moutton, Sebastien, additional, Racine, Caroline, additional, Engel, Camille, additional, De Giraud d’Agay, Melchior, additional, Lehalle, Daphne, additional, Goldenberg, Alice, additional, Willems, Marjolaine, additional, Coubes, Christine, additional, Genevieve, David, additional, Verloes, Alain, additional, Capri, Yline, additional, Perrin, Laurence, additional, Jacquemont, Marie-Line, additional, Lambert, Laetitia, additional, Lacaze, Elodie, additional, Thevenon, Julien, additional, Hana, Nadine, additional, Van-Gils, Julien, additional, Dubucs, Charlotte, additional, Bizaoui, Varoona, additional, Gerard-Blanluet, Marion, additional, Lespinasse, James, additional, Mercier, Sandra, additional, Guerrot, Anne-Marie, additional, Maystadt, Isabelle, additional, Tisserant, Emilie, additional, Faivre, Laurence, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, and Thauvin-Robinet, Christel, additional
- Published
- 2023
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41. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing
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Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-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-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, 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, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, Alembik, Yves, Luxembourg Centre for Systems Biomedicine (LCSB): Bioinformatics Core (R. Schneider Group) [research center], Denommé-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-Marçais, Nolwenn, Kleefstra, Tjitske, López-Martín, Estrella, Macek, Milan, Mencarelli, Maria Antonietta, Moutton, Sébastien, 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, Tran Mau-Them, Frédéric, Trimouille, Aurélien, Votypka, Pavel, de Vries, Bert B. A., Willemsen, Marjolein H., Zurek, Birte, Verloes, Alain, Philippe, Christophe, Abbott, Kristin M., Faivre, Laurence, Kerstjens, Mieke, Martín, Estrella López, Macek Jr., Milan, Maystadt, Isabelle, Morleo, Manuela, Nigro, Vicenzo, Pinelli, Michele, Radio, Francesca C., Riess, Olaf, Agathe, Jean-Madeleine De Sainte, Santen, Gijs W. E., Thauvin, Christel, Torella, Annalaura, Vissers, Lisenka, Vitobello, Antonio, Zguro, Kristina, Boer, Elke De, Cohen, Enzo, Danis, Daniel, Gao, Fei, Horvath, Rita, Johari, Mridul, Johanson, Lennart, Li, Shuang, Morsy, Heba, Nelson, Isabelle, Paramonov, Ida, te Paske, Iris B. A. W., Robinson, Peter, Savarese, Marco, Steyaert, Wouter, Töpf, Ana, van der Velde, Joeri K., Vandrovcova, Jana, Ossowski, Stephan, Demidov, German, Sturm, Marc, Schulze-Hentrich, Julia M., Schüle, Rebecca, Xu, Jishu, Kessler, Christoph, Wayand, Melanie, Synofzik, Matthis, Wilke, Carlo, Traschütz, Andreas, Schöls, Ludger, Hengel, Holger, Lerche, Holger, Kegele, Josua, Heutink, Peter, Brunner, Han, Scheffer, Hans, Hoogerbrugge, Nicoline, `t Hoen, Peter A. C., Vissers, Lisenka E. L. M., Sablauskas, Karolis, de Voer, Richarda M., Kamsteeg, Erik-Jan, van de Warrenburg, Bart, van Os, Nienke, Paske, Iris Te, Janssen, Erik, Steehouwer, Marloes, Yaldiz, Burcu, Brookes, Anthony J., Veal, Colin, Gibson, Spencer, Maddi, Vatsalya, Mehtarizadeh, Mehdi, Riaz, Umar, Warren, Greg, Dizjikan, Farid Yavari, Shorter, Thomas, Straub, Volker, Bettolo, Chiara Marini, Manera, Jordi Diaz, Hambleton, Sophie, Engelhardt, Karin, Alexander, Elizabeth, Peyron, Christine, Pélissier, Aurore, Beltran, Sergi, Gut, Ivo Glynne, Laurie, Steven, Piscia, Davide, Papakonstantinou, Anastasios, Bullich, Gemma, Corvo, Alberto, Fernandez-Callejo, Marcos, Hernández, Carles, Picó, Daniel, Lochmüller, Hanns, Gumus, Gulcin, Bros-Facer, Virginie, Rath, Ana, Hanauer, Marc, Lagorce, David, Hongnat, Oscar, Chahdil, Maroua, Lebreton, Emeline, Stevanin, Giovanni, Durr, Alexandra, Davoine, Claire-Sophie, Guillot-Noel, Léna, Heinzmann, Anna, Coarelli, Giulia, Bonne, Gisèle, Evangelista, Teresinha, Allamand, Valérie, Ben Yaou, Rabah, Metay, Corinne, Eymard, Bruno, Atalaia, Antonio, Stojkovic, Tanya, Turnovec, Marek, Thomasová, Dana, Kremliková, Radka Pourová, Franková, Vera, Havlovicová, Markéta, Li\vsková, Petra, Dole\vzalová, Pavla, Parkinson, Helen, Keane, Thomas, Freeberg, Mallory, Thomas, Coline, Spalding, Dylan, Robert, Glenn, Costa, Alessia, Patch, Christine, Hanna, Mike, Houlden, Henry, Reilly, Mary, Efthymiou, Stephanie, Cali, Elisa, Magrinelli, Francesca, Sisodiya, Sanjay M., Rohrer, Jonathan, Muntoni, Francesco, Zaharieva, Irina, Sarkozy, Anna, Timmerman, Vincent, Baets, Jonathan, de Vries, Geert, De Winter, Jonathan, Beijer, Danique, de Jonghe, Peter, Van de Vondel, Liedewei, De Ridder, Willem, Weckhuysen, Sarah, Nigro, Vincenzo, Mutarelli, Margherita, Varavallo, Alessandra, Banfi, Sandro, Musacchia, Francesco, Piluso, Giulio, Ferlini, Alessandra, Selvatici, Rita, Gualandi, Francesca, Bigoni, Stefania, Rossi, Rachele, Neri, Marcella, Aretz, Stefan, Spier, Isabel, Sommer, Anna Katharina, Peters, Sophia, Oliveira, Carla, Pelaez, Jose Garcia, Matos, Ana Rita, José, Celina São, Ferreira, Marta, Gullo, Irene, Fernandes, Susana, Garrido, Luzia, Ferreira, Pedro, Carneiro, Fátima, Swertz, Morris A., Johansson, Lennart, van der Vries, Gerben, Neerincx, Pieter B., Ruvolo, David, Kerstjens Frederikse, Wilhemina S., Zonneveld-Huijssoon, Eveline, Roelofs-Prins, Dieuwke, van Gijn, Marielle, Köhler, Sebastian, Metcalfe, Alison, Drunat, Séverine, Heron, Delphine, Mignot, Cyril, Keren, Boris, Lacombe, Didier, Trimouille, Aurelien, Capella, Gabriel, Valle, Laura, Holinski-Feder, Elke, Laner, Andreas, Steinke-Lange, Verena, Cilio, Maria-Roberta, Carpancea, Evelina, Depondt, Chantal, Lederer, Damien, Sznajer, Yves, Duerinckx, Sarah, Mary, Sandrine, Macaya, Alfons, Cazurro-Gutiérrez, Ana, Pérez-Dueñas, Belén, Munell, Francina, Jarava, Clara Franco, Masó, Laura Batlle, Marcé-Grau, Anna, Colobran, Roger, Hackman, Peter, Udd, Bjarne, Hemelsoet, Dimitri, Dermaut, Bart, Schuermans, Nika, Poppe, Bruce, Verdin, Hannah, Osorio, Andrés Nascimento, Depienne, Christel, Roos, Andreas, Cordts, Isabell, Deschauer, Marcus, Striano, Pasquale, Zara, Federico, Riva, Antonella, Iacomino, Michele, Uva, Paolo, Scala, Marcello, Scudieri, Paolo, Claeys, Kristl, Boztug, Kaan, Haimel, Matthias, W.E, Gijs, Ruivenkamp, Claudia A. L., Natera de Benito, Daniel, Thompson, Rachel, Polavarapu, Kiran, Grimbacher, Bodo, Zaganas, Ioannis, Kokosali, Evgenia, Lambros, Mathioudakis, Evangeliou, Athanasios, Spilioti, Martha, Kapaki, Elisabeth, Bourbouli, Mara, Balicza, Peter, Molnar, Maria Judit, De la Paz, Manuel Posada, Sánchez, Eva Bermejo, Delgado, Beatriz Martínez, Alonso García de la Rosa, F. Javier, Schröck, Evelin, Rump, Andreas, Mei, Davide, Vetro, Annalisa, Balestrini, Simona, Guerrini, Renzo, Chinnery, Patrick F., Ratnaike, Thiloka, Schon, Katherine, Maver, Ales, Peterlin, Borut, Münchau, Alexander, Lohmann, Katja, Herzog, Rebecca, Pauly, Martje, May, Patrick, Beeson, David, Cossins, Judith, Furini, Simone, Afenjar, Alexandra, Goldenberg, Alice, Masurel, Alice, Phan, Alice, Dieux-Coeslier, Anne, Fargeot, Anne, Guerrot, Anne-Marie, Toutain, Annick, Molin, Arnaud, Sorlin, Arthur, Putoux, Audrey, Jouret, Béatrice, Laudier, Béatrice, Demeer, Bénédicte, Doray, Bérénice, Bonniaud, Bertille, Isidor, Bertrand, Gilbert-Dussardier, Brigitte, Leheup, Bruno, Reversade, Bruno, Paul, Carle, Vincent-Delorme, Catherine, Neiva, Cecilia, Poirsier, Céline, Quélin, Chloé, Chiaverini, Christine, Coubes, Christine, Francannet, Christine, Colson, Cindy, Desplantes, Claire, Wells, Constance, Goizet, Cyril, Sanlaville, Damien, Amram, Daniel, Lehalle, Daphné, Geneviève, David, Gaillard, Dominique, Zivi, Einat, Sarrazin, Elisabeth, Steichen, Elisabeth, Schaefer, Élise, Lacaze, Elodie, Jacquemin, Emmanuel, Bongers, Ernie, Kilic, Esra, Colin, Estelle, Giuliano, Fabienne, Prieur, Fabienne, Laffargue, Fanny, Morice-Picard, Fanny, Petit, Florence, Cartault, François, Feillet, François, Baujat, Geneviève, Morin, Gilles, Diene, Gwenaëlle, Journel, Hubert, Perthus, Isabelle, Lespinasse, James, Alessandri, Jean-Luc, Amiel, Jeanne, Martinovic, Jelena, Delanne, Julian, Albuisson, Juliette, Lambert, Laëtitia, Perrin, Laurence, Ousager, Lilian Bomme, Van Maldergem, Lionel, Pinson, Lucile, Ruaud, Lyse, Samimi, Mahtab, Bournez, Marie, Bonnet-Dupeyron, Marie Noëlle, Vincent, Marie, Jacquemont, Marie-Line, Cordier-Alex, Marie-Pierre, Gérard-Blanluet, Marion, Willems, Marjolaine, Spodenkiewicz, Marta, Doco-Fenzy, Martine, Rossi, Massimiliano, Renaud, Mathilde, Fradin, Mélanie, Mathieu, Michèle, Holder-Espinasse, Muriel H., Houcinat, Nada, Hanna, Nadine, Leperrier, Nathalie, Chassaing, Nicolas, Philip, Nicole, Boute, Odile, Van Kien, Philippe Khau, Parent, Philippe, Bitoun, Pierre, Sarda, Pierre, Vabres, Pierre, Jouk, Pierre-Simon, Touraine, Renaud, El Chehadeh, Salima, Whalen, Sandra, Marlin, Sandrine, Passemard, Sandrine, Grotto, Sarah, Bellanger, Séverine Audebert, Blesson, Sophie, Nambot, Sophie, Naudion, Sophie, Lyonnet, Stanislas, Odent, Sylvie, Attie-Bitach, Tania, Busa, Tiffany, Drouin-Garraud, Valérie, Layet, Valérie, Bizaoui, Varoona, Cusin, Véronica, Capri, Yline, and Alembik, Yves
- Abstract
Purpose Within the Solve-RD project (https://solve-rd.eu/), the European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies aimed to investigate whether a reanalysis of exomes from unsolved cases based on ClinVar annotations could establish additional diagnoses. We present the results of the “ClinVar low-hanging fruit” reanalysis, reasons for the failure of previous analyses, and lessons learned. Methods Data from the first 3576 exomes (1522 probands and 2054 relatives) collected from European Reference Network for Intellectual disability, TeleHealth, Autism and Congenital Anomalies was reanalyzed by the Solve-RD consortium by evaluating for the presence of single-nucleotide variant, and small insertions and deletions already reported as (likely) pathogenic in ClinVar. Variants were filtered according to frequency, genotype, and mode of inheritance and reinterpreted. Results We identified causal variants in 59 cases (3.9%), 50 of them also raised by other approaches and 9 leading to new diagnoses, highlighting interpretation challenges: variants in genes not known to be involved in human disease at the time of the first analysis, misleading genotypes, or variants undetected by local pipelines (variants in off-target regions, low quality filters, low allelic balance, or high frequency). Conclusion The “ClinVar low-hanging fruit” analysis represents an effective, fast, and easy approach to recover causal variants from exome sequencing data, herewith contributing to the reduction of the diagnostic deadlock.
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- 2023
42. Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition
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Genetica Klinische Genetica, Brain, Child Health, Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim, Genetica Klinische Genetica, Brain, Child Health, Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, Piard, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K E, Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O'Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, and Sadikovic, Bekim
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- 2023
43. Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool
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Tran Mau-Them, Frédéric, primary, Delanne, Julian, additional, Denommé-Pichon, Anne-Sophie, additional, Safraou, Hana, additional, Bruel, Ange-Line, additional, Vitobello, Antonio, additional, Garde, Aurore, additional, Nambot, Sophie, additional, Bourgon, Nicolas, additional, Racine, Caroline, additional, Sorlin, Arthur, additional, Moutton, Sébastien, additional, Marle, Nathalie, additional, Rousseau, Thierry, additional, Sagot, Paul, additional, Simon, Emmanuel, additional, Vincent-Delorme, Catherine, additional, Boute, Odile, additional, Colson, Cindy, additional, Petit, Florence, additional, Legendre, Marine, additional, Naudion, Sophie, additional, Rooryck, Caroline, additional, Prouteau, Clément, additional, Colin, Estelle, additional, Guichet, Agnès, additional, Ziegler, Alban, additional, Bonneau, Dominique, additional, Morel, Godelieve, additional, Fradin, Mélanie, additional, Lavillaureix, Alinoé, additional, Quelin, Chloé, additional, Pasquier, Laurent, additional, Odent, Sylvie, additional, Vera, Gabriella, additional, Goldenberg, Alice, additional, Guerrot, Anne-Marie, additional, Brehin, Anne-Claire, additional, Putoux, Audrey, additional, Attia, Jocelyne, additional, Abel, Carine, additional, Blanchet, Patricia, additional, Wells, Constance F., additional, Deiller, Caroline, additional, Nizon, Mathilde, additional, Mercier, Sandra, additional, Vincent, Marie, additional, Isidor, Bertrand, additional, Amiel, Jeanne, additional, Dard, Rodolphe, additional, Godin, Manon, additional, Gruchy, Nicolas, additional, Jeanne, Médéric, additional, Schaeffer, Elise, additional, Maillard, Pierre-Yves, additional, Payet, Frédérique, additional, Jacquemont, Marie-Line, additional, Francannet, Christine, additional, Sigaudy, Sabine, additional, Bergot, Marine, additional, Tisserant, Emilie, additional, Ascencio, Marie-Laure, additional, Binquet, Christine, additional, Duffourd, Yannis, additional, Philippe, Christophe, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional
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- 2023
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44. The “extreme phenotype approach” applied to male breast cancer allows the identification of rare variants of ATR as potential breast cancer susceptibility alleles
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Chevarin, Martin, primary, Alcantara, Diana, additional, Albuisson, Juliette, additional, Collonge-Rame, Marie-Agnès, additional, Populaire, Céline, additional, Selmani, Zohair, additional, Baurand, Amandine, additional, Sawka, Caroline, additional, Bertolone, Geoffrey, additional, Callier, Patrick, additional, Duffourd, Yannis, additional, Jonveaux, Philippe, additional, Bignon, Yves-Jean, additional, Coupier, Isabelle, additional, Cornelis, François, additional, Cordier, Christophe, additional, Mozelle-Nivoix, Monique, additional, Rivière, Jean-Baptiste, additional, Kuentz, Paul, additional, Thauvin, Christel, additional, Boidot, Romain, additional, Ghiringhelli, François, additional, O'Driscoll, Marc, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional
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- 2023
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45. Identification of protease-sensitive but not misfolding PNLIP variants in familial and hereditary pancreatitis
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Abrantes, Amandine, Aguilera Munoz, Lina, Albouys, Jérémie, Alric, Laurent, Amiot, Xavier, Archambeaud, Isabelle, Audiau, Solène, Bastide, Laetitia, Baudon, Julien, Bellaiche, Guy, Bellon, Serge, Bertrand, Valérie, Bideau, Karine, Billiemaz, Kareen, Billioud, Claire, Bonnefoy, Sabine, Borderon, Corinne, Bournet, Barbara, Breton, Estelle, Brugel, Mathias, Buscail, Louis, Cadiot, Guillaume, Camus, Marine, Causse, Xavier, Chamouard, Patrick, Chaput, Ulriikka, Cholet, Franck, Ciocan, Dragos Marius, Clavel, Christine, Coffin, Benoit, Coimet-Berger, Laura, Creveaux, Isabelle, Culetto, Adrian, Daboussi, Oussama, Dalstein, Véronique, De Mestier, Louis, Degand, Thibault, d'Engremont, Christelle, Denis, Bernard, Dermine, Solène, Desgrippes, Romain, Drouet d'Aubigny, Augustin, Enaud, Raphaël, Fabre, Alexandre, Gargot, Dany, Gelsi, Eve, Gentilcore, Elena, Gincul, Rodica, Ginglinger-Favre, Emmanuelle, Giovannini, Marc, Gomercic, Cécile, Gondran, Hannah, Grainville, Thomas, Grandval, Philippe, Grasset, Denis, Grimaldi, Stéphane, Grimbert, Sylvie, Hagege, Hervé, Heissat, Sophie, Hentic, Olivia, Herber-Mayne, Anne, Hervouet, Marc, Hoibian, Solene, Jacques, Jérémie, Jais, Bénédicte, Kaassis, Mehdi, Koch, Stéphane, Lacaze, Elodie, Lacroute, Joël, Lamireau, Thierry, Laurent, Lucie, Le Guillou, Xavier, Leblanc, Sarah, Levy, Philippe, Lievre, Astrid, Lorenzo, Diane, Maire, Frédérique, Marcel, Kévin, Matias, Clément, Mauillon, Jacques, Morgant, Stéphanie, Moussata, Driffa, Muller, Nelly, Nambot, Sophie, Napoleon, Bertrand, Olivier, Anne, Pagenault, Maël, Pelletier, Anne-laure, Pennec, Olivier, Pinard, Fabien, Pioche, Mathieu, Prost, Bénédicte, Queneherve, Lucille, Rebours, Vinciane, Reboux, Noemi, Rekik, Samia, Riachi, Ghassan, Rohmer, Barbara, Roquelaure, Bertrand, Rosa Hezode, Isabelle, Rostain, Florian, Saurin, Jean-Christophe, Servais, Laure, Stan-Iuga, Roxana, Subtil, Clément, Texier, Charles, Thomassin, Lucie, Tougeron, David, Tsakiris, Laurent, Valats, Jean-Christophe, Vuitton, Lucine, Wallenhorst, Timothée, Wangerme, Marc, Zanaldi, Hélène, Zerbib, Frank, Masson, Emmanuelle, Berthet, Stéphanie, Le Gac, Gerald, Le Rhun, Marc, Ka, Chandran, Autret, Sandrine, Gourlaouen, Isabelle, Cooper, David N., Férec, Claude, and Chen, Jian-Min
- Published
- 2023
- Full Text
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46. The different clinical facets of SYN1-related neurodevelopmental disorders
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Parenti, Ilaria, primary, Leitão, Elsa, additional, Kuechler, Alma, additional, Villard, Laurent, additional, Goizet, Cyril, additional, Courdier, Cécile, additional, Bayat, Allan, additional, Rossi, Alessandra, additional, Julia, Sophie, additional, Bruel, Ange-Line, additional, Tran Mau-Them, Frédéric, additional, Nambot, Sophie, additional, Lehalle, Daphné, additional, Willems, Marjolaine, additional, Lespinasse, James, additional, Ghoumid, Jamal, additional, Caumes, Roseline, additional, Smol, Thomas, additional, El Chehadeh, Salima, additional, Schaefer, Elise, additional, Abi-Warde, Marie-Thérèse, additional, Keren, Boris, additional, Afenjar, Alexandra, additional, Tabet, Anne-Claude, additional, Levy, Jonathan, additional, Maruani, Anna, additional, Aledo-Serrano, Ángel, additional, Garming, Waltraud, additional, Milleret-Pignot, Clara, additional, Chassevent, Anna, additional, Koopmans, Marije, additional, Verbeek, Nienke E., additional, Person, Richard, additional, Belles, Rebecca, additional, Bellus, Gary, additional, Salbert, Bonnie A., additional, Kaiser, Frank J., additional, Mazzola, Laure, additional, Convers, Philippe, additional, Perrin, Laurine, additional, Piton, Amélie, additional, Wiegand, Gert, additional, Accogli, Andrea, additional, Brancati, Francesco, additional, Benfenati, Fabio, additional, Chatron, Nicolas, additional, Lewis-Smith, David, additional, Thomas, Rhys H., additional, Zara, Federico, additional, Striano, Pasquale, additional, Lesca, Gaetan, additional, and Depienne, Christel, additional
- Published
- 2022
- Full Text
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47. Asymmetric crying facies in an elderly, when a facial asymmetry is not a facial paralysis but a marker of possible congenital malformations: case report and review of the literature
- Author
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Thomas, Quentin, primary, Morgant, Marie-Catherine, additional, Nambot, Sophie, additional, Thauvin-Robinet, Christel, additional, and Giroud, Maurice, additional
- Published
- 2022
- Full Text
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48. The p190 RhoGAPs, ARHGAP35, and ARHGAP5 are implicated in GnRH neuronal development: Evidence from patients with idiopathic hypogonadotropic hypogonadism, zebrafish, and in vitro GAP activity assay
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Lippincott, Margaret F., primary, Xu, Wanxue, additional, Smith, Abigail A., additional, Miao, Xinyu, additional, Lafont, Agathe, additional, Shennib, Omar, additional, Farley, Gordon J., additional, Sabbagh, Riwa, additional, Delaney, Angela, additional, Stamou, Maria, additional, Plummer, Lacey, additional, Salnikov, Kathryn, additional, Georgopoulos, Neoklis A., additional, Mericq, Veronica, additional, Quinton, Richard, additional, Mau-Them, Frederic Tran, additional, Nambot, Sophie, additional, Hamad, Asma, additional, Brittain, Helen, additional, Tooze, Rebecca S., additional, Calpena, Eduardo, additional, Wilkie, Andrew O.M., additional, Willems, Marjolaine, additional, Crowley, William F., additional, Balasubramanian, Ravikumar, additional, Lamarche-Vane, Nathalie, additional, Davis, Erica E., additional, and Seminara, Stephanie B., additional
- Published
- 2022
- Full Text
- View/download PDF
49. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping
- Author
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Nambot, Sophie, Masurel, Alice, El Chehadeh, Salima, Mosca-Boidron, Anne-Laure, Thauvin-Robinet, Christel, Lefebvre, Mathilde, Marle, Nathalie, Thevenon, Julien, Perez-Martin, Stéphanie, Dulieu, Véronique, Huet, Frédéric, Plessis, Ghislaine, Andrieux, Joris, Jouk, Pierre-Simon, Billy-Lopez, Gipsy, Coutton, Charles, Morice-Picard, Fanny, Delrue, Marie-Ange, Heron, Delphine, Rooryck, Caroline, Goldenberg, Alice, Saugier-Veber, Pascale, Joly-Hélas, Géraldine, Calenda, Patricia, Kuentz, Paul, Manouvrier-Hanu, Sylvie, Dupuis-Girod, Sophie, Callier, Patrick, and Faivre, Laurence
- Published
- 2016
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50. Epileptic encephalopathy as a new feature of the sudden infant death with dysgenesis of the testes syndrome caused byTSPYL1variants
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Mazel, Benoit, primary, Mallet, Delphine, additional, Roucher‐Boulez, Florence, additional, Signor, Candace Ben, additional, Bournez, Marie, additional, Darmency, Véronique, additional, Bourgeois, Valentin, additional, Poe, Charlotte, additional, El Khabbaz, Fares, additional, Vitobello, Antonio, additional, Philippe, Christophe, additional, Duffourd, Yannis, additional, Thauvin‐Robinet, Christel, additional, Faivre, Laurence, additional, and Nambot, Sophie, additional
- Published
- 2022
- Full Text
- View/download PDF
Catalog
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