Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans
Lu, Hsiang-Chih, Tan, Qiumin, Rousseaux, Maxime W C, Wang, Wei, Kim, Ji-Yoen, Richman, Ronald, Wan, Ying-Wooi, Yeh, Szu-Ying, Patel, Jay M, Liu, Xiuyun, Lin, Tao, Lee, Yoontae, Fryer, John D, Han, Jing, Chahrour, Maria, Finnell, Richard H, Lei, Yunping, Zurita-Jimenez, Maria E, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Van Maldergem, Lionel, Lehalle, Daphne, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Thevenon, Julien, Cousin, Margot A, Bro, Della E, Lanpher, Brendan C, Klee, Eric W, Alexander, Nora, Bainbridge, Matthew N, Orr, Harry T, Sillitoe, Roy V, Ljungberg, M Cecilia, Liu, Zhandong, Schaaf, Christian P, Zoghbi, Huda Y
Published in Nature genetics (01.04.2017)
Published in Nature genetics (01.04.2017)
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Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing
Bruel, Ange-Line, Nambot, Sophie, Quéré, Virginie, Vitobello, Antonio, Thevenon, Julien, Assoum, Mirna, Moutton, Sébastien, Houcinat, Nada, Lehalle, Daphné, Jean-Marçais, Nolwenn, Chevarin, Martin, Jouan, Thibaud, Poë, Charlotte, Callier, Patrick, Tisserand, Emilie, Philippe, Christophe, Them, Frédéric Tran Mau, Duffourd, Yannis, Faivre, Laurence, Thauvin-Robinet, Christel
Published in European journal of human genetics : EJHG (01.10.2019)
Published in European journal of human genetics : EJHG (01.10.2019)
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IQSEC2-related encephalopathy in males and females: a comparative study including 37 novel patients
Mignot, Cyril, McMahon, Aoife C., Bar, Claire, Campeau, Philippe M, Davidson, Claire, Buratti, Julien, Nava, Caroline, Jacquemont, Marie-Line, Tallot, Marilyn, Milh, Mathieu, Edery, Patrick, Marzin, Pauline, Barcia, Giulia, Barnerias, Christine, Besmond, Claude, Bienvenu, Thierry, Bruel, Ange-Line, Brunga, Ledia, Ceulemans, Berten, Coubes, Christine, Cristancho, Ana G., Cunningham, Fiona, Dehouck, Marie-Bertille, Donner, Elizabeth J., Duban-Bedu, Bénédicte, Dubourg, Christèle, Gardella, Elena, Gauthier, Julie, Geneviève, David, Gobin-Limballe, Stéphanie, Goldberg, Ethan M., Hagebeuk, Eveline, Hamdan, Fadi F., Hančárová, Miroslava, Hubert, Laurence, Ioos, Christine, Ichikawa, Shoji, Janssens, Sandra, Journel, Hubert, Kaminska, Anna, Keren, Boris, Koopmans, Marije, Lacoste, Caroline, Laššuthová, Petra, Lederer, Damien, Lehalle, Daphné, Marjanovic, Dragan, Métreau, Julia, Michaud, Jacques L., Miller, Kathryn, Minassian, Berge A., Morales, Joannella, Moutard, Marie-Laure, Munnich, Arnold, Ortiz-Gonzalez, Xilma R., Pinard, Jean-Marc, Prchalová, Darina, Putoux, Audrey, Quelin, Chloé, Rosen, Alyssa R., Roume, Joelle, Rossignol, Elsa, Simon, Marleen E. H., Smol, Thomas, Shur, Natasha, Shelihan, Ivan, Štěrbová, Katalin, Vyhnálková, Emílie, Vilain, Catheline, Soblet, Julie, Smits, Guillaume, Yang, Samuel P., van der Smagt, Jasper J., van Hasselt, Peter M., van Kempen, Marjan, Weckhuysen, Sarah, Helbig, Ingo, Villard, Laurent, Héron, Delphine, Koeleman, Bobby, Møller, Rikke S., Lesca, Gaetan, Helbig, Katherine L., Nabbout, Rima, Verbeek, Nienke E., Depienne, Christel
Published in Genetics in medicine (01.04.2019)
Published in Genetics in medicine (01.04.2019)
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Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
Vegas, Nancy, Demir, Zeynep, Gordon, Christopher T., Breton, Sylvain, Romanelli Tavares, Vanessa L., Moisset, Hugo, Zechi‐Ceide, Roseli, Kokitsu‐Nakata, Nancy M., Kido, Yasuhiro, Marlin, Sandrine, Gherbi Halem, Souad, Meerschaut, Ilse, Callewaert, Bert, Chung, Brian, Revencu, Nicole, Lehalle, Daphné, Petit, Florence, Propst, Evan J., Papsin, Blake C., Phillips, John H., Jakobsen, Linda, Le Tanno, Pauline, Thévenon, Julien, McGaughran, Julie, Gerkes, Erica H., Leoni, Chiara, Kroisel, Peter, Tan, Tiong Y., Henderson, Alex, Terhal, Paulien, Basel‐Salmon, Lina, Alkindy, Adila, White, Susan M., Passos‐Bueno, Maria R., Pingault, Véronique, De Pontual, Loïc, Amiel, Jeanne
Published in Human mutation (01.05.2022)
Published in Human mutation (01.05.2022)
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Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients
Lehalle, Daphné, Bruel, Ange‐Line, Vitobello, Antonio, Denommé‐Pichon, Anne‐Sophie, Duffourd, Yannis, Assoum, Mirna, Amiel, Jeanne, Baujat, Geneviève, Bessieres, Bettina, Bigoni, Stefania, Burglen, Lydie, Captier, Guillaume, Dard, Rodolphe, Edery, Patrick, Fortunato, Fernanda, Geneviève, David, Goldenberg, Alice, Guibaud, Laurent, Héron, Delphine, Holder‐Espinasse, Muriel, Lederer, Damien, Lopez Grondona, Fermina, Grotto, Sarah, Marlin, Sandrine, Nadeau, Gwenaël, Picard, Arnaud, Rossi, Massimiliano, Roume, Joëlle, Sanlaville, Damien, Saugier‐Veber, Pascale, Triau, Stéphane, Valenzuela Palafoll, Maria Irene, Vanlerberghe, Clémence, Van Maldergem, Lionel, Vezain, Myriam, Vincent‐Delorme, Catherine, Zivi, Einat, Thevenon, Julien, Vabres, Pierre, Thauvin‐Robinet, Christel, Callier, Patrick, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.07.2022)
Published in American journal of medical genetics. Part A (01.07.2022)
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Combining globally search for a regular expression and print matching lines with bibliographic monitoring of genomic database improves diagnosis
Tran Mau-Them, Frédéric, Overs, Alexis, Bruel, Ange-Line, Duquet, Romain, Thareau, Mylene, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Sorlin, Arthur, Safraou, Hana, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Racine, Caroline, Engel, Camille, De Giraud d'Agay, Melchior, Lehalle, Daphne, Goldenberg, Alice, Willems, Marjolaine, Coubes, Christine, Genevieve, David, Verloes, Alain, Capri, Yline, Perrin, Laurence, Jacquemont, Marie-Line, Lambert, Laetitia, Lacaze, Elodie, Thevenon, Julien, Hana, Nadine, Van-Gils, Julien, Dubucs, Charlotte, Bizaoui, Varoona, Gerard-Blanluet, Marion, Lespinasse, James, Mercier, Sandra, Guerrot, Anne-Marie, Maystadt, Isabelle, Tisserant, Emilie, Faivre, Laurence, Philippe, Christophe, Duffourd, Yannis, Thauvin-Robinet, Christel
Published in Frontiers in genetics (20.04.2023)
Published in Frontiers in genetics (20.04.2023)
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Heterozygous deletion of the LRFN2 gene is associated with working memory deficits
Thevenon, Julien, Souchay, Céline, Seabold, Gail K, Dygai-Cochet, Inna, Callier, Patrick, Gay, Sébastien, Corbin, Lucie, Duplomb, Laurence, Thauvin-Robinet, Christel, Masurel-Paulet, Alice, El Chehadeh, Salima, Avila, Magali, Minot, Delphine, Guedj, Eric, Chancenotte, Sophie, Bonnet, Marlène, Lehalle, Daphne, Wang, Ya-Xian, Kuentz, Paul, Huet, Frédéric, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Petralia, Ronald S, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.06.2016)
Published in European journal of human genetics : EJHG (01.06.2016)
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Defining a new aggressiveness classification and using NFATc1 localization as a prognostic factor in cherubism
Kadlub, Natacha, MD, Sessiecq, Quentin, MS, Dainese, Linda, MD, Joly, Aline, MD, Lehalle, Daphne, MD, Marlin, Sandrine, MD, Badoual, Cecile, MD, PhD, Galmiche, Louise, MD, PhD, Majoufre-Lefebvre, Claire, MD, PhD, Berdal, Ariane, DDS, PhD, Deckert, Marcel, PhD, Vazquez, Marie-Paule, MD, PhD, Descroix, Vianney, DDS, PhD, Coudert, Amélie E., PhD, Picard, Arnaud, MD, PhD
Published in Human pathology (01.12.2016)
Published in Human pathology (01.12.2016)
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The different clinical facets of SYN1 -related neurodevelopmental disorders
Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E, Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A, Kaiser, Frank J, Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H, Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel
Published in Frontiers in cell and developmental biology (08.12.2022)
Published in Frontiers in cell and developmental biology (08.12.2022)
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Journal Article
Impaired eIF5A function causes a Mendelian disorder that is partially rescued in model systems by spermidine
Faundes, Víctor, Jennings, Martin D., Crilly, Siobhan, Legraie, Sarah, Withers, Sarah E., Cuvertino, Sara, Davies, Sally J., Douglas, Andrew G. L., Fry, Andrew E., Harrison, Victoria, Amiel, Jeanne, Lehalle, Daphné, Newman, William G., Newkirk, Patricia, Ranells, Judith, Splitt, Miranda, Cross, Laura A., Saunders, Carol J., Sullivan, Bonnie R., Granadillo, Jorge L., Gordon, Christopher T., Kasher, Paul R., Pavitt, Graham D., Banka, Siddharth
Published in Nature communications (05.02.2021)
Published in Nature communications (05.02.2021)
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Journal Article
Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis
Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Genetics in medicine (01.06.2018)
Published in Genetics in medicine (01.06.2018)
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De novo loss-of-function KCNMA1 variants are associated with a new multiple malformation syndrome and a broad spectrum of developmental and neurological phenotypes
Liang, Lina, Li, Xia, Moutton, Sébastien, Schrier Vergano, Samantha A, Cogné, Benjamin, Saint-Martin, Anne, Hurst, Anna C E, Hu, Yushuang, Bodamer, Olaf, Thevenon, Julien, Hung, Christina Y, Isidor, Bertrand, Gerard, Bénédicte, Rega, Adelaide, Nambot, Sophie, Lehalle, Daphné, Duffourd, Yannis, Thauvin-Robinet, Christel, Faivre, Laurence, Bézieau, Stéphane, Dure, Leon S, Helbling, Daniel C, Bick, David, Xu, Chengqi, Chen, Qiuyun, Mancini, Grazia M S, Vitobello, Antonio, Wang, Qing Kenneth
Published in Human molecular genetics (01.09.2019)
Published in Human molecular genetics (01.09.2019)
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Journal Article
Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome
Quartier, Angélique, Poquet, Hélène, Gilbert-Dussardier, Brigitte, Rossi, Massimiliano, Casteleyn, Anne-Sophie, Portes, Vincent des, Feger, Claire, Nourisson, Elsa, Kuentz, Paul, Redin, Claire, Thevenon, Julien, Mosca-Boidron, Anne-Laure, Callier, Patrick, Muller, Jean, Lesca, Gaetan, Huet, Frédéric, Geoffroy, Véronique, El Chehadeh, Salima, Jung, Matthieu, Trojak, Benoit, Le Gras, Stéphanie, Lehalle, Daphné, Jost, Bernard, Maury, Stéphanie, Masurel, Alice, Edery, Patrick, Thauvin-Robinet, Christel, Gérard, Bénédicte, Mandel, Jean-Louis, Faivre, Laurence, Piton, Amélie
Published in European journal of human genetics : EJHG (01.04.2017)
Published in European journal of human genetics : EJHG (01.04.2017)
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Journal Article
Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations
Werren, Elizabeth A., Peirent, Emily R., Jantti, Henna, Guxholli, Alba, Srivastava, Kinshuk Raj, Orenstein, Naama, Narayanan, Vinodh, Wiszniewski, Wojciech, Dawidziuk, Mateusz, Gawlinski, Pawel, Umair, Muhammad, Khan, Amjad, Khan, Shahid Niaz, Geneviève, David, Lehalle, Daphné, van Gassen, K. L. I., Giltay, Jacques C., Oegema, Renske, van Jaarsveld, Richard H., Rafiullah, Rafiullah, Rappold, Gudrun A., Rabin, Rachel, Pappas, John G., Wheeler, Marsha M., Bamshad, Michael J., Tsan, Yao-Chang, Johnson, Matthew B., Keegan, Catherine E., Srivastava, Anshika, Bielas, Stephanie L.
Published in Cell death & disease (30.05.2024)
Published in Cell death & disease (30.05.2024)
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Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing
Kuentz, Paul, St-Onge, Judith, Duffourd, Yannis, Courcet, Jean-Benoît, Carmignac, Virginie, Jouan, Thibaud, Sorlin, Arthur, Abasq-Thomas, Claire, Albuisson, Juliette, Amiel, Jeanne, Amram, Daniel, Arpin, Stéphanie, Attie-Bitach, Tania, Bahi-Buisson, Nadia, Barbarot, Sébastien, Baujat, Geneviève, Bessis, Didier, Boccara, Olivia, Bonnière, Maryse, Boute, Odile, Bursztejn, Anne-Claire, Chiaverini, Christine, Cormier-Daire, Valérie, Coubes, Christine, Delobel, Bruno, Edery, Patrick, Chehadeh, Salima El, Francannet, Christine, Geneviève, David, Goldenberg, Alice, Haye, Damien, Isidor, Bertrand, Jacquemont, Marie-Line, Khau Van Kien, Philippe, Lacombe, Didier, Martin, Ludovic, Martinovic, Jelena, Maruani, Annabel, Mathieu-Dramard, Michèle, Mazereeuw-Hautier, Juliette, Michot, Caroline, Mignot, Cyril, Miquel, Juliette, Morice-Picard, Fanny, Petit, Florence, Phan, Alice, Rossi, Massimiliano, Touraine, Renaud, Verloes, Alain, Vincent, Marie, Vincent-Delorme, Catherine, Whalen, Sandra, Willems, Marjolaine, Marle, Nathalie, Lehalle, Daphné, Thevenon, Julien, Thauvin-Robinet, Christel, Hadj-Rabia, Smaïl, Faivre, Laurence, Vabres, Pierre, Rivière, Jean-Baptiste
Published in Genetics in medicine (01.09.2017)
Published in Genetics in medicine (01.09.2017)
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Exome sequencing in clinical settings: preferences and experiences of parents of children with rare diseases (SEQUAPRE study)
Chassagne, Aline, Pélissier, Aurore, Houdayer, Françoise, Cretin, Elodie, Gautier, Elodie, Salvi, Dominique, Kidri, Sarah, Godard, Aurélie, Thauvin-Robinet, Christel, Masurel, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Thevenon, Julien, Lesca, Gaetan, Putoux, Audrey, Cordier, Marie-Pierre, Dupuis-Girod, Sophie, Till, Marianne, Duffourd, Yannis, Rivière, Jean-Baptiste, Joly, Lorraine, Juif, Christine, Putois, Olivier, Ancet, Pierre, Lapointe, Anne-Sophie, Morin, Paulette, Edery, Patrick, Rossi, Massimiliano, Sanlaville, Damien, Béjean, Sophie, Peyron, Christine, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.05.2019)
Published in European journal of human genetics : EJHG (01.05.2019)
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Journal Article
Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests
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, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.08.2019)
Published in European journal of human genetics : EJHG (01.08.2019)
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Journal Article
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
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, Thauvin-Robinet, Christel
Published in Human genetics (01.11.2020)
Published in Human genetics (01.11.2020)
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Journal Article
Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature
Carmignac, Virginie, Nambot, Sophie, Lehalle, Daphné, Callier, Patrick, Moortgat, Stephanie, Benoit, Valérie, Ghoumid, Jamal, Delobel, Bruno, Smol, Thomas, Thuillier, Caroline, Zordan, Cécile, Naudion, Sophie, Bienvenu, Thierry, Touraine, Renaud, Ramond, Francis, Zweier, Christiane, Reis, André, Kraus, Cornelia, Nizon, Mathilde, Cogné, Benjamin, Verloes, Alain, Tran Mau‐Them, Frédéric, Sorlin, Arthur, Jouan, Thibaud, Duffourd, Yannis, Tisserant, Emilie, Philippe, Christophe, Vitobello, Antonio, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel
Published in Clinical genetics (01.07.2020)
Published in Clinical genetics (01.07.2020)
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Next‐generation sequencing in a series of 80 fetuses with complex cardiac malformations and/or heterotaxy
Liu, Hui, Giguet‐Valard, Anna‐Gaëlle, Simonet, Thomas, Szenker‐Ravi, Emmanuelle, Lambert, Laetitia, Vincent‐Delorme, Catherine, Scheidecker, Sophie, Fradin, Mélanie, Morice‐Picard, Fanny, Naudion, Sophie, Ciorna‐Monferrato, Viorica, Colin, Estelle, Fellmann, Florence, Blesson, Sophie, Jouk, Pierre‐Simon, Francannet, Christine, Petit, Florence, Moutton, Sébastien, Lehalle, Daphné, Chassaing, Nicolas, El Zein, Loubna, Bazin, Anne, Bénéteau, Claire, Attié‐Bitach, Tania, Hanu, Sylvie M., Brechard, Marie‐Pierre, Chiesa, Jean, Pasquier, Laurent, Rooryck‐Thambo, Caroline, Van Maldergem, Lionel, Cabrol, Christelle, El Chehadeh, Salima, Vasiljevic, Alexandre, Isidor, Bertrand, Abel, Carine, Thevenon, Julien, Di Filippo, Sylvie, Vigouroux‐Castera, Adeline, Attia, Jocelyne, Quelin, Chloé, Odent, Sylvie, Piard, Juliette, Giuliano, Fabienne, Putoux, Audrey, Khau Van Kien, Philippe, Yardin, Catherine, Touraine, Renaud, Reversade, Bruno, Bouvagnet, Patrice
Published in Human mutation (01.12.2020)
Published in Human mutation (01.12.2020)
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