Author: "Mosca-Boidron, Anne-Laure" - Searchworks@Jio Institute Digital Library Search Results

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151 results on '"Mosca-Boidron, Anne-Laure"'

1. Assortative mating and parental genetic relatedness contribute to the pathogenicity of variably expressive variants

Author: Smolen, Corrine, Jensen, Matthew, Dyer, Lisa, Pizzo, Lucilla, Tyryshkina, Anastasia, Banerjee, Deepro, Rohan, Laura, Huber, Emily, El Khattabi, Laila, Prontera, Paolo, Caberg, Jean-Hubert, Van Dijck, Anke, Schwartz, Charles, Faivre, Laurence, Callier, Patrick, Mosca-Boidron, Anne-Laure, Lefebvre, Mathilde, Pope, Kate, Snell, Penny, Lockhart, Paul J., Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Luana Mandarà, Giuseppa Maria, Bruccheri, Maria Grazia, Pichon, Olivier, Le Caignec, Cedric, Stoeva, Radka, Cuinat, Silvestre, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Nordsletten, Ashley, Martin-Coignard, Dominique, Sistermans, Erik, Kooy, R. Frank, Amor, David J., Romano, Corrado, Isidor, Bertrand, Juusola, Jane, and Girirajan, Santhosh
Published: 2023
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2. 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

Author: 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
Published: 2020
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3. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20

Author: 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
Published: 2020
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4. Secondary actionable findings identified by exome sequencing: expected impact on the organisation of care from the study of 700 consecutive tests

Author: 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
Published: 2019
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5. 2.5 years’ experience of GeneMatcher data-sharing: a powerful tool for identifying new genes responsible for rare diseases

Author: 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
Published: 2019
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6. Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Author: Pizzo, Lucilla, Jensen, Matthew, Polyak, Andrew, Rosenfeld, Jill A., Mannik, Katrin, Krishnan, Arjun, McCready, Elizabeth, Pichon, Olivier, Le Caignec, Cedric, Van Dijck, Anke, Pope, Kate, Voorhoeve, Els, Yoon, Jieun, Stankiewicz, Paweł, Cheung, Sau Wai, Pazuchanics, Damian, Huber, Emily, Kumar, Vijay, Kember, Rachel L., Mari, Francesca, Curró, Aurora, Castiglia, Lucia, Galesi, Ornella, Avola, Emanuela, Mattina, Teresa, Fichera, Marco, Mandarà, Luana, Vincent, Marie, Nizon, Mathilde, Mercier, Sandra, Bénéteau, Claire, Blesson, Sophie, Martin-Coignard, Dominique, Mosca-Boidron, Anne-Laure, Caberg, Jean-Hubert, Bucan, Maja, Zeesman, Susan, Nowaczyk, Małgorzata J. M., Lefebvre, Mathilde, Faivre, Laurence, Callier, Patrick, Skinner, Cindy, Keren, Boris, Perrine, Charles, Prontera, Paolo, Marle, Nathalie, Renieri, Alessandra, Reymond, Alexandre, Kooy, R. Frank, Isidor, Bertrand, Schwartz, Charles, Romano, Corrado, Sistermans, Erik, Amor, David J., Andrieux, Joris, and Girirajan, Santhosh
Published: 2019
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7. Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses

Author: 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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8. Assortative mating and parental genetic relatedness drive the pathogenicity of variably expressive variants

Author: Smolen, Corrine, primary, Jensen, Matthew, additional, Dyer, Lisa, additional, Pizzo, Lucilla, additional, Tyryshkina, Anastasia, additional, Banerjee, Deepro, additional, Rohan, Laura, additional, Huber, Emily, additional, El Khattabi, Laila, additional, Prontera, Paolo, additional, Caberg, Jean-Hubert, additional, Van Dijck, Anke, additional, Schwartz, Charles, additional, Faivre, Laurence, additional, Callier, Patrick, additional, Mosca-Boidron, Anne-Laure, additional, Lefebvre, Mathilde, additional, Pope, Kate, additional, Snell, Penny, additional, Lockhart, Paul J., additional, Castiglia, Lucia, additional, Galesi, Ornella, additional, Avola, Emanuela, additional, Mattina, Teresa, additional, Fichera, Marco, additional, Luana Mandara, Giuseppa Maria, additional, Grazia Bruccheri, Maria, additional, Pichon, Olivier, additional, Le Caignec, Cedric, additional, Stoeva, Radka, additional, Cuinat, Silvestre, additional, Mercier, Sandra, additional, Beneteau, Claire, additional, Blesson, Sophie, additional, Nordsletten, Ashley, additional, Martin-Coignard, Dominique, additional, Sistermans, Erik, additional, Kooy, R. Frank, additional, Amor, David J., additional, Romano, Corrado, additional, Isidor, Bertrand, additional, Juusola, Jane, additional, and Girirajan, Santhosh, additional
Published: 2023
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9. Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author: Tabet, Anne-Claude, Rolland, Thomas, Ducloy, Marie, Lévy, Jonathan, Buratti, Julien, Mathieu, Alexandre, Haye, Damien, Perrin, Laurence, Dupont, Céline, Passemard, Sandrine, Capri, Yline, Verloes, Alain, Drunat, Séverine, Keren, Boris, Mignot, Cyril, Marey, Isabelle, Jacquette, Aurélia, Whalen, Sandra, Pipiras, Eva, Benzacken, Brigitte, Chantot-Bastaraud, Sandra, Afenjar, Alexandra, Héron, Delphine, Le Caignec, Cédric, Beneteau, Claire, Pichon, Olivier, Isidor, Bertrand, David, Albert, El Khattabi, Laila, Kemeny, Stephan, Gouas, Laetitia, Vago, Philippe, Mosca-Boidron, Anne-Laure, Faivre, Laurence, Missirian, Chantal, Philip, Nicole, Sanlaville, Damien, Edery, Patrick, Satre, Véronique, Coutton, Charles, Devillard, Françoise, Dieterich, Klaus, Vuillaume, Marie-Laure, Rooryck, Caroline, Lacombe, Didier, Pinson, Lucile, Gatinois, Vincent, Puechberty, Jacques, Chiesa, Jean, Lespinasse, James, Dubourg, Christèle, Quelin, Chloé, Fradin, Mélanie, Journel, Hubert, Toutain, Annick, Martin, Dominique, Benmansour, Abdelamdjid, Leblond, Claire S., Toro, Roberto, Amsellem, Frédérique, Delorme, Richard, and Bourgeron, Thomas
Published: 2019
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10. Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Author: Carapito, Raphael, Konantz, Martina, Paillard, Catherine, Miao, Zhichao, Pichot, Angélique, Leduc, Magalie S., Yang, Yaping, Bergstrom, Katie L., Mahoney, Donald H., Shardy, Deborah L., Alsaleh, Ghada, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Rolli, Véronique, Müller, Joëlle S., Alghisi, Elisa, Sauteur, Loïc, Macquin, Cécile, Morlon, Aurore, Sancho, Consuelo Sebastia, Amati-Bonneau, Patrizia, Procaccio, Vincent, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Osmani, Naël, Lefebvre, Olivier, Goetz, Jacky G., Unal, Sule, Akarsu, Nurten A., Radosavljevic, Mirjana, Chenard, Marie-Pierre, Rialland, Fanny, Grain, Audrey, Béné, Marie-Christine, Eveillard, Marion, Vincent, Marie, Guy, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Thevenon, Julien, Myers, Kasiani, Fleming, Mark D., Shimamura, Akiko, Bottollier-Lemallaz, Elodie, Westhof, Eric, Lengerke, Claudia, Isidor, Bertrand, and Bahram, Seiamak
Published: 2017
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11. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Author: 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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12. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Author: Mosca-Boidron, Anne-Laure, Gueneau, Lucie, Huguet, Guillaume, Goldenberg, Alice, Henry, Céline, Gigot, Nadège, Pallesi-Pocachard, Emilie, Falace, Antonio, Duplomb, Laurence, Thevenon, Julien, Duffourd, Yannis, ST-Onge, Judith, Chambon, Pascal, Rivière, Jean-Baptiste, Thauvin-Robinet, Christel, Callier, Patrick, Marle, Nathalie, Payet, Muriel, Ragon, Clemence, Goubran Botros, Hany, Buratti, Julien, Calderari, Sophie, Dumas, Guillaume, Delorme, Richard, Lagarde, Nathalie, Pinoit, Jean-Michel, Rosier, Antoine, Masurel-Paulet, Alice, Cardoso, Carlos, Mugneret, Francine, Saugier-Veber, Pascale, Campion, Dominique, Faivre, Laurence, and Bourgeron, Thomas
Published: 2016
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13. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Author: 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, and Faivre, Laurence
Published: 2016
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14. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array‐CGH

Author: Tisserant, Emilie, primary, Vitobello, Antonio, additional, Callegarin, Davide, additional, Verdez, Simon, additional, Bruel, Ange‐line, additional, Aho Glele, Ludwig Serge, additional, Sorlin, Arthur, additional, Viora‐Dupont, Eleonore, additional, Konyukh, Marina, additional, Marle, Nathalie, additional, Nambot, Sophie, additional, Moutton, Sébastien, additional, Racine, Caroline, additional, Garde, Aurore, additional, Delanne, Julian, additional, Tran‐Mau‐Them, Frédéric, additional, Philippe, Christophe, additional, Kuentz, Paul, additional, Poulleau, Marlène, additional, Payet, Muriel, additional, Poe, Charlotte, additional, Thauvin‐Robinet, Christel, additional, Faivre, Laurence, additional, Mosca‐Boidron, Anne‐Laure, additional, Thevenon, Julien, additional, Duffourd, Yannis, additional, and Callier, Patrick, additional
Published: 2022
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15. The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

Author: Delanne, Julian, primary, Bruel, Ange-Line, additional, Huet, Frédéric, additional, Moutton, Sébastien, additional, Nambot, Sophie, additional, Grisval, Margot, additional, Houcinat, Nada, additional, Kuentz, Paul, additional, Sorlin, Arthur, additional, Callier, Patrick, additional, Jean-Marcais, Nolwenn, additional, Mosca-Boidron, Anne-Laure, additional, Mau-Them, Frédéric Tran, additional, Denommé-Pichon, Anne-Sophie, additional, Vitobello, Antonio, additional, Lehalle, Daphné, additional, El Chehadeh, Salima, additional, Francannet, Christine, additional, Lebrun, Marine, additional, Lambert, Laetitia, additional, Jacquemont, Marie-Line, additional, Gerard-Blanluet, Marion, additional, Alessandri, Jean-Luc, additional, Willems, Marjolaine, additional, Thevenon, Julien, additional, Chouchane, Mondher, additional, Darmency, Véronique, additional, Fatus-Fauconnier, Clémence, additional, Gay, Sébastien, additional, Bournez, Marie, additional, Masurel, Alice, additional, Leguy, Vanessa, additional, Duffourd, Yannis, additional, Philippe, Christophe, additional, Feillet, François, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional
Published: 2021
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16. Delineation of the 3p14.1p13 Microdeletion Associated With Syndromic Distal Limb Contractures

Author: Thevenon, Julien, Monnier, Nicole, Callier, Patrick, Dieterich, Klaus, Francoise, Michel, Montgomery, Tara, Kjaergaard, Susanne, Neas, Katherine, Dixon, Joanne, Dahm, Thomas Lee, Huet, Frédéric, Ragon, Clémence, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Duplomb, Laurence, Aubriot-Lorton, Marie-Hélène, Mugneret, Francine, Vokes, Steve A., Tucker, Haley W., Lunardi, Joël, Faivre, Laurence, Jouk, Pierre Simon, and Thauvin-Robinet, Christel
Published: 2014
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17. 3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

Author: Thevenon, Julien, Callier, Patrick, Poquet, Hélène, Bache, Iben, Menten, Bjorn, Malan, Valérie, Cavaliere, Maria Luigia, Girod, Jean-Paul, Thauvin-Robinet, Christel, El Chehadeh, Salima, Pinoit, Jean-Michel, Huet, Frederic, Verges, Bruno, Petit, Jean-Michel, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Mugneret, Francine, Masurel-Paulet, Alice, Novelli, Antonio, Tümer, Zeynep, Loeys, Bart, Lyonnet, Stanislas, and Faivre, Laurence
Published: 2014
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18. Genome sequencing in cytogenetics: Comparison of short‐read and linked‐read approaches for germline structural variant detection and characterization

Author: Uguen, Kévin, Jubin, Claire, Duffourd, Yannis, Bardel, Claire, Malan, Valérie, Dupont, Jean‐Michel, El Khattabi, Laila, Chatron, Nicolas, Vitobello, Antonio, Rollat‐Farnier, Pierre‐Antoine, Baulard, Céline, Lelorch, Marc, Leduc, Aurelie, Tisserant, Emilie, Tran Mau‐Them, Frédéric, Danjean, Vincent, Délépine, Marc, Till, Marianne, Meyer, Vincent, LYONNET, Stanislas, Mosca‐Boidron, Anne‐laure, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel, Schluth‐Bolard, Caroline, Boland, Anne, Olaso, Robert, Callier, Patrick, Romana, Serge, Deleuze, Jean‐François, Sanlaville, Damien, Génétique, génomique fonctionnelle et biotechnologies (UMR 1078) (GGB), EFS-Université de Brest (UBO)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO), Genoscope - Centre national de séquençage [Evry] (GENOSCOPE), Université Paris-Saclay-Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Commissariat à l'énergie atomique et aux énergies alternatives (CEA)-Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Equipe GAD (LNC - U1231), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, Centre Albert Trillat [Hôpital de la Croix-Rousse - HCL], Hôpital de la Croix-Rousse [CHU - HCL], Hospices Civils de Lyon (HCL)-Hospices Civils de Lyon (HCL), Laboratoire Histologie Embryologie Cytogénétique [CHU Necker], CHU Necker - Enfants Malades [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Institut Cochin (IC UM3 (UMR 8104 / U1016)), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPCité), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Centre National de Génotypage (CNG), Commissariat à l'énergie atomique et aux énergies alternatives (CEA), Performance analysis and optimization of LARge Infrastructures and Systems (POLARIS), Inria Grenoble - Rhône-Alpes, Institut National de Recherche en Informatique et en Automatique (Inria)-Institut National de Recherche en Informatique et en Automatique (Inria)-Laboratoire d'Informatique de Grenoble (LIG), Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP ), Université Grenoble Alpes (UGA), Service de génétique [Hôpial Louis Pradel - HCL], Hôpital Louis Pradel [CHU - HCL], Imagine - Institut des maladies génétiques (IHU) (Imagine - U1163), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPCité), Pôle Couple-Enfant, Département de Génétique et Procréation, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Institut de Biologie François JACOB (JACOB), Direction de Recherche Fondamentale (CEA) (DRF (CEA)), Institut Brestois Santé Agro Matière (IBSAM), Université de Brest (UBO)-Université de Brest (UBO)-EFS-Institut National de la Santé et de la Recherche Médicale (INSERM), Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Bourgogne (UB)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale (INSERM), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université de Paris (UP), Centre de recherche en neurosciences de Lyon (CRNL), Université de Lyon-Université de Lyon-Université Jean Monnet [Saint-Étienne] (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Paris (UP), Génétique des Anomalies du Développement (GAD), IFR100 - Structure fédérative de recherche Santé-STIC-Université de Bourgogne (UB), Eco-Anthropologie et Ethnobiologie (EAE), Université Paris Diderot - Paris 7 (UPD7)-Centre National de la Recherche Scientifique (CNRS), Laboratoire de Cytogénétique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP)-Université Paris Descartes - Paris 5 (UPD5)-CHU Necker - Enfants Malades [AP-HP], Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Unité Mathématique, Informatique et Génome (MIG), Institut National de la Recherche Agronomique (INRA), Interactions Arbres-Microorganismes (IAM), Université de Lorraine (UL)-Institut National de la Recherche Agronomique (INRA), Laboratoire d'Informatique de Grenoble (LIG), Université Pierre Mendès France - Grenoble 2 (UPMF)-Université Joseph Fourier - Grenoble 1 (UJF)-Institut polytechnique de Grenoble - Grenoble Institute of Technology (Grenoble INP)-Institut National Polytechnique de Grenoble (INPG)-Centre National de la Recherche Scientifique (CNRS)-Université Grenoble Alpes (UGA), Service de cytogénétique constitutionnelle, Hospices Civils de Lyon (HCL)-CHU de Lyon-Centre Neuroscience et Recherche, Laboratoire Information, Milieux, Médias, Médiations - EA 3820 (I3M), Université Nice Sophia Antipolis (... - 2019) (UNS), Université Côte d'Azur (UCA)-Université Côte d'Azur (UCA)-Université de Toulon (UTLN), Génétique et épigénétique des maladies métaboliques, neurosensorielles et du développement (Inserm U781), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Lipides - Nutrition - Cancer (U866) (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Ecole Nationale Supérieure de Biologie Appliquée à la Nutrition et à l'Alimentation de Dijon (ENSBANA), Service d'Histologie-Embryologie et Cytogénétique Assistance Publique, Assistance publique - Hôpitaux de Paris (AP-HP) (APHP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Cité (UPC), and Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Cité (UPC)
Subjects: Whole Genome Sequencing, lcsh:QH426-470, Method, structural variants, Chromosome Disorders, bioinformatics, [SDV.BIBS]Life Sciences [q-bio]/Quantitative Methods [q-bio.QM], genome sequencing, Cytogenetics, lcsh:Genetics, 10X Genomics: Illumina, Intellectual Disability, Genomic Structural Variation, Humans, Abnormalities, Multiple, Genetic Testing, Germ-Line Mutation, ComputingMilieux_MISCELLANEOUS
Abstract: Background Structural variants (SVs) include copy number variants (CNVs) and apparently balanced chromosomal rearrangements (ABCRs). Genome sequencing (GS) enables SV detection at base‐pair resolution, but the use of short‐read sequencing is limited by repetitive sequences, and long‐read approaches are not yet validated for diagnosis. Recently, 10X Genomics proposed Chromium, a technology providing linked‐reads to reconstruct long DNA fragments and which could represent a good alternative. No study has compared short‐read to linked‐read technologies to detect SVs in a constitutional diagnostic setting yet. The aim of this work was to determine whether the 10X Genomics technology enables better detection and comprehension of SVs than short‐read WGS. Methods We included 13 patients carrying various SVs. Whole genome analyses were performed using paired‐end HiSeq X sequencing with (linked‐read strategy) or without (short‐read strategy) Chromium library preparation. Two different bioinformatic pipelines were used: Variants are called using BreakDancer for short‐read strategy and LongRanger for long‐read strategy. Variant interpretations were first blinded. Results The short‐read strategy allowed diagnosis of known SV in 10/13 patients. After unblinding, the linked‐read strategy identified 10/13 SVs, including one (patient 7) missed by the short‐read strategy. Conclusion In conclusion, regarding the results of this study, 10X Genomics solution did not improve the detection and characterization of SV., We compared linked‐read and short‐read sequencing in patients with structural variants. We conclude that linked‐read strategy did not improve the detection and characterization of structural variants.
Published: 2020

19. De novo TBR1 variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Author: Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot, Kruisselbrink, Teresa, Lanpher, Brendan, Klee, Eric, Fiala, Elise, Grange, Dorothy, Meschino, Wendy, Hiatt, Susan, Cooper, Gregory, Olivié, Hilde, Smith, Wendy, Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan, Miramar, Dolores, van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna, Pajusalu, Sander, Õunap, Katrin, Filiano, James, Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William, Hevner, Robert, Thauvin-Robinet, Christel, Couvet, Sandrine, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Lipides - Nutrition - Cancer [Dijon - U1231] (LNC), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement, FHU TRANSLAD (CHU de Dijon), Center for Integrative Brain Research [Seattle, WA, USA], University of Washington [Seattle]-Seattle Children's Research Institute, Department of Pediatrics [Seattle], University of Washington [Seattle], Unité fonctionnelle d' Innovation en Diagnostic Génomique des Maladies Rares (CHU Dijon) (UF6254), Département de génétique [CHU Rouen] (Centre Normandie de Génomique et de Médecine Personnalisée), CHU Rouen, Normandie Université (NU)-Normandie Université (NU), Service de pédiatrie médicale et médecine de l'adolescent [Rouen], Normandie Université (NU)-Normandie Université (NU)-Université de Rouen Normandie (UNIROUEN), Normandie Université (NU), Service de génétique et embryologie médicales [CHU Trousseau], CHU Trousseau [APHP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Clinique de Génétique médicale Guy Fontaine [CHRU LIlle], Service de Génétique [CHU Lyon] (Centre de pathologie de l'Est), Hospices civils de Lyon (HCL), Centre de recherche en neurosciences de Lyon - Lyon Neuroscience Research Center (CRNL), Université Claude Bernard Lyon 1 (UCBL), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS), Genetics of Neurodevelopment (GENDEV), Université de Lyon-Université de Lyon-Université Jean Monnet - Saint-Étienne (UJM)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Claude Bernard Lyon 1 (UCBL), Service de Neurologie Pédiatrique [CHU Bicêtre], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Bicêtre, Département de génétique (groupe hospitalier le Havre), Groupe Hospitalier du Havre, Centre Hospitalier Intercommunal de Créteil (CHIC), Department of Pediatrics [Philadelphia, PA, USA] (Division of Genetics), Children’s Hospital of Philadelphia (CHOP ), The Center for Applied Genomics [Philadelphia, PA, USA], Mayo Clinic [Rochester], Department of Pediatrics [Saint Louis, MO, USA] (Division of Genetics and Genomic Medicine), Washington University in Saint Louis (WUSTL), Department of Genetics [Saint-Louis], HudsonAlpha Institute for Biotechnology [Huntsville, AL], University Hospitals Leuven [Leuven], Maine Medical Center, University of British Columbia [Vancouver], Service de génétique médicale - Unité de génétique clinique [Nantes], Université de Nantes (UN)-Centre hospitalier universitaire de Nantes (CHU Nantes), Meyer Children's Hospital [Florence, Italie], Università degli Studi di Firenze = University of Florence (UniFI), CHU Bordeaux [Bordeaux], Department of Genetics [Boston], Harvard Medical School [Boston] (HMS), University Medical Center Groningen [Groningen] (UMCG), University of Tartu, Dartmouth Hitchcock Medical Center [Lebanon, NH, USA] (DHMC), Service de Génétique Médicale [Lille], Institut de génétique médicale-Centre Hospitalier Régional Universitaire [Lille] (CHRU Lille), Laboratoire de Diagnostic Génétique [CHU Strasbourg], Université de Strasbourg (UNISTRA)-CHU Strasbourg, Maladies génétiques d'expression pédiatrique [CHU Trousseau] (Inserm U933), Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Trousseau [APHP], UF de Génétique chromosomique [CHU Trousseau], Service de Génétique et Biologie Moléculaires [CHU Cochin], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Hôpital Cochin [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), GeneDx [Gaithersburg, MD, USA], Service Génétique Médicale [CHU Poitiers], Centre hospitalier universitaire de Poitiers (CHU Poitiers), Université de Bourgogne (UB)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Institut Agro Dijon, and Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)-Institut national d'enseignement supérieur pour l'agriculture, l'alimentation et l'environnement (Institut Agro)
Subjects: Proband, Candidate gene, INTELLECTUAL DISABILITY, MESH: Hippocampus, [SDV]Life Sciences [q-bio], MESH: Cognition, MESH: Neocortex, MESH: Child, Intellectual disability, MESH: Craniofacial Abnormalities, MESH: Animals, MESH: Syndrome, Genetics (clinical), Genetics, PROGENITORS, biology, Phenotype, NEOCORTEX, [SDV] Life Sciences [q-bio], EXPRESSION, GENES, MESH: Mutation, MESH: T-Box Domain Proteins, MESH: Autistic Disorder, [SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human genetics, MESH: Phenotype, Article, REGION, MESH: Intellectual Disability, NEUROGENESIS, Dysgenesis, FEZF2, medicine, MESH: Mice, MESH: Adolescent, MESH: Humans, MUTATIONS, business.industry, MESH: Child, Preschool, MESH: Adult, medicine.disease, MESH: Male, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, biology.protein, Autism, TBR1, business, Neurocognitive, MESH: Female
Abstract: International audience; TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1 has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1 has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1 variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1 mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1 in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1 variants and diagnose ASD probands.
Published: 2020

20. Delineation of a new chromosome 20q11.2 duplication syndrome including the ASXL1 gene

Author: Avila, Magali, Kirchhoff, Maria, Marle, Nathalie, Hove, Hanna D., Chouchane, Mondher, Thauvin-Robinet, Christel, Masurel, Alice, Mosca-Boidron, Anne-Laure, Callier, Patrick, Mugneret, Francine, Kjaergaard, Susanne, and Faivre, Laurence
Published: 2013
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21. Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

Author: Mosca-Boidron, Anne-Laure, Valduga, Mylène, Thauvin-Robinet, Christel, Lagarde, Nathalie, Marle, Nathalie, Henry, Céline, Pinoit, Jean-Michel, Huet, Frédéric, Béri-Deixheimer, Mylène, Ragon, Clémence, Gueneau, Lucie, Payet, Muriel, Callier, Patrick, Mugneret, Francine, Jonveaux, Philippe, and Faivre, Laurence
Published: 2013
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22. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

Author: Courcet, Jean-Benoît, Faivre, Laurence, Malzac, Perrine, Masurel-Paulet, Alice, Lopez, Estelle, Callier, Patrick, Lambert, Laetitia, Lemesle, Martine, Thevenon, Julien, Gigot, Nadège, Duplomb, Laurence, Ragon, Clémence, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Huet, Frédéric, Philippe, Christophe, Moncla, Anne, and Thauvin-Robinet, Christel
Published: 2012
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23. Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

Author: Thevenon, Julien, Lopez, Estelle, Keren, Boris, Heron, Delphine, Mignot, Cyril, Altuzarra, Cecilia, Béri-Dexheimer, Mylène, Bonnet, Céline, Magnin, Eloi, Burglen, Lydie, Minot, Delphine, Vigneron, Jacqueline, Morle, Sophie, Anheim, Mathieu, Charles, Perrine, Brice, Alexis, Gallagher, Louise, Amiel, Jeanne, Haffen, Emmanuel, Mach, Corinne, Depienne, Christel, Doummar, Diane, Bonnet, Marlène, Duplomb, Laurence, Carmignac, Virginie, Callier, Patrick, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Roze, Virginie, Aral, Bernard, Razavi, Ferechte, Jonveaux, Philippe, Faivre, Laurence, and Thauvin-Robinet, Christel
Published: 2012
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24. The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

Author: El Chehadeh-Djebbar, Salima, Faivre, Laurence, Moncla, Anne, Aral, Bernard, Missirian, Chantal, Popovici, Cornel, Rump, Patrick, Van Essen, Anthonie, Frances, Anne-Marie, Gigot, Nadège, Cusin, Veronica, Masurel-Paulet, Alice, Gueneau, Lucie, Payet, Muriel, Ragon, Clémence, Marle, Nathalie, Mosca-Boidron, Anne-Laure, Huet, Frédéric, Balikova, Irina, Teyssier, Jean-Raymond, Mugneret, Francine, Thauvin-Robinet, Christel, and Callier, Patrick
Published: 2011
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25. Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene

Author: Thauvin-Robinet, Christel, Callier, Patrick, Franco, Brunella, Zuffardi, Orsetta, Payet, Muriel, Aral, Bernard, Gigot, Nadège, Donzel, Anne, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Huet, Frédéric, Teyssier, Jean-Raymond, Mugneret, Francine, and Faivre, Laurence
Published: 2009
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26. Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.

Author: Tran Mau‐Them, Frederic, Duffourd, Yannis, Vitobello, Antonio, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Delanne, Julian, Moutton, Sebastien, Sorlin, Arthur, Couturier, Victor, Bourgeois, Valentin, Chevarin, Martin, Poe, Charlotte, Mosca‐Boidron, Anne‐Laure, Callier, Patrick, Safraou, Hana, Faivre, Laurence, Philippe, Christophe, and Thauvin‐Robinet, Christel
Subjects: RARE diseases, TRANSLATIONAL research, DNA, DIAGNOSIS, COST effectiveness
Abstract: Background: Exome sequencing (ES) has become the most powerful and cost‐effective molecular tool for deciphering rare diseases with a diagnostic yield approaching 30%–40% in solo‐ES and 50% in trio‐ES. We applied an innovative parental DNA pooling method to reduce the parental sequencing cost while maintaining the diagnostic yield of trio‐ES. Methods: We pooled six (Agilent‐CRE‐v2–100X) or five parental DNA (TWIST‐HCE–70X) aiming to detect allelic balance around 8–10% for heterozygous status. The strategies were applied as second‐tier (74 individuals after negative solo‐ES) and first‐tier approaches (324 individuals without previous ES). Results: The allelic balance of parental‐pool variants was around 8.97%. Sanger sequencing uncovered false positives in 1.5% of sporadic variants. In the second‐tier approach, we evaluated than two thirds of the Sanger validations performed after solo‐ES (41/59–69%) would have been saved if the parental‐pool segregations had been available from the start. The parental‐pool strategy identified a causative diagnosis in 18/74 individuals (24%) in the second‐tier and in 116/324 individuals (36%) in the first‐tier approaches, including 19 genes newly associated with human disorders. Conclusions: Parental‐pooling is an efficient alternative to trio‐ES. It provides rapid segregation and extension to translational research while reducing the cost of parental and Sanger sequencing. [ABSTRACT FROM AUTHOR]
Published: 2021
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27. Delineating the psychiatric and behavioral phenotype of recurrent 2q13 deletions and duplications

Author: Wolfe, Kate, McQuillin, Andrew, Alesi, Viola, Boudry Labis, Elise, Cutajar, Peter, Dallapiccola, Bruno, Dentici, Maria Lisa, Dieux-Coeslier, Anne, Duban-Bedu, Benedicte, Duelund Hjortshøj, Tina, Goel, Himanshu, Loddo, Sara, Morrogh, Deborah, Mosca-Boidron, Anne-Laure, Novelli, Antonio, Olivier-Faivre, Laurence, Parker, Jennifer, Parker, Michael J, Patch, Christine, Pelling, Anna L, Smol, Thomas, Tümer, Zeynep, Vanakker, Olivier, van Haeringen, Arie, Vanlerberghe, Clémence, Strydom, Andre, Skuse, David, and Bass, Nick
Subjects: Adult, Male, INTELLECTUAL DISABILITY, Adolescent, DNA Copy Number Variations, DISORDERS, autism spectrum disorders, Developmental Disabilities, Gene Duplication, Intellectual Disability, SCHIZOPHRENIA, Chromosome Duplication, Medicine and Health Sciences, Humans, VALIDITY, AUTISM, Child, COPY-NUMBER VARIANTS, Chromosome Aberrations, DEVELOPMENTAL DELAY, Mental Disorders, Biology and Life Sciences, United Kingdom, INDIVIDUALS, attention deficit hyperactivity disorder, Phenotype, Child, Preschool, Chromosomes, Human, Pair 2, RELIABILITY, Female, intellectual disabilities, Chromosome Deletion, copy number variants
Abstract: Recurrent deletions and duplications at the 2q13 locus have been associated with developmental delay (DD) and dysmorphisms. We aimed to undertake detailed clinical characterization of individuals with 2q13 copy number variations (CNVs), with a focus on behavioral and psychiatric phenotypes. Participants were recruited via the Unique chromosomal disorder support group, U.K. National Health Service Regional Genetics Centres, and the DatabasE of genomiC varIation and Phenotype in Humans using Ensembl Resources (DECIPHER) database. A review of published 2q13 patient case reports was undertaken to enable combined phenotypic analysis. We present a new case series of 2q13 CNV carriers (21 deletion, 4 duplication) and the largest ever combined analysis with data from published studies, making a total of 54 deletion and 23 duplication carriers. DD/intellectual disabilities was identified in the majority of carriers (79% deletion, 70% duplication), although in the new cases 52% had an IQ in the borderline or normal range. Despite the median age of the new cases being only 9 years, 64% had a clinical psychiatric diagnosis. Combined analysis found attention deficit hyperactivity disorder (ADHD) to be the most frequent diagnosis (48% deletion, 60% duplication), followed by autism spectrum disorders (33% deletion, 17% duplication). Aggressive (33%) and self-injurious behaviors (33%) were also identified in the new cases. CNVs at 2q13 are typically associated with DD with mildly impaired intelligence, and a high rate of childhood psychiatric diagnoses-particularly ADHD. We have further characterized the clinical phenotype related to imbalances of the 2q13 region and identified it as a region of interest for the neurobiological investigation of ADHD.
Published: 2018

28. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author: Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, et al, and University of Zurich
Subjects: Cohesin, 2716 Genetics (clinical), 1311 Genetics, 10039 Institute of Medical Genetics, Intellectual disability, STAG1, 570 Life sciences, biology, 610 Medicine & health, datasharing
Published: 2017

29. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author: Lehalle , Daphne, Mosca-Boidron , Anne-Laure, Duffourd , Yannis, Duplomb Jego , Laurence, Kuentz , Paul, Masurel-Paulet , Alice, Riviere , Jean-Baptiste, Thevenon , Julien, Callier , Patrick, Thauvin-Robinet , Christel, Faivre , Laurence, Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand ( CHU Dijon ), Lipides - Nutrition - Cancer [Dijon - U1231] ( LNC ), Université de Bourgogne ( UB ) -AgroSup Dijon - Institut National Supérieur des Sciences Agronomiques, de l'Alimentation et de l'Environnement-Institut National de la Santé et de la Recherche Médicale ( INSERM ), and Laboratoire de cytogénétique (CHU de Dijon)
Subjects: Cohesin, [ SDV.MHEP ] Life Sciences [q-bio]/Human health and pathology, Intellectual disability, STAG1, biological phenomena, cell phenomena, and immunity, datasharing
Abstract: International audience; Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations.
Published: 2017

30. 16p13.11 microduplication in 45 new patients: refined clinical significance and genotype–phenotype correlations

Author: Allach El Khattabi, Laïla, primary, Heide, Solveig, additional, Caberg, Jean-Hubert, additional, Andrieux, Joris, additional, Doco Fenzy, Martine, additional, Vincent-Delorme, Caroline, additional, Callier, Patrick, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Boute-Benejean, Odile, additional, Cordier, Marie Pierre, additional, Faivre, Laurence, additional, Francannet, Christine, additional, Gerard, Marion, additional, Goldenberg, Alice, additional, Masurel-Paulet, Alice, additional, Mosca-Boidron, Anne-Laure, additional, Marle, Nathalie, additional, Moncla, Anne, additional, Le Meur, Nathalie, additional, Mathieu-Dramard, Michèle, additional, Plessis, Ghislaine, additional, Lesca, Gaetan, additional, Rossi, Massimiliano, additional, Edery, Patrick, additional, Delahaye-Duriez, Andrée, additional, De Pontual, Loïc, additional, Tabet, Anne Claude, additional, Lebbar, Aziza, additional, Suiro, Lesley, additional, Ioos, Christine, additional, Natiq, Abdelhafid, additional, Chafai Elalaoui, Siham, additional, Missirian, Chantal, additional, Receveur, Aline, additional, François-Fiquet, Caroline, additional, Garnier, Pascal, additional, Yardin, Catherine, additional, Laroche, Cécile, additional, Vago, Philippe, additional, Sanlaville, Damien, additional, Dupont, Jean Michel, additional, Benzacken, Brigitte, additional, and Pipiras, Eva, additional
Published: 2018
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31. Extending the ALDH18A1 clinical spectrum to severe autosomal recessive fetal cutis laxa with corpus callosum agenesis

Author: Lefebvre, Mathilde, primary, Beaufrere, Anne‐Marie, additional, Francannet, Christine, additional, Laurichesse, Helene, additional, Poe, Charlotte, additional, Jouan, Thibaud, additional, Troude, Baptiste, additional, Dechelotte, Pierre, additional, Vabres, Pierre, additional, Biard, Marie, additional, Mosca‐Boidron, Anne‐Laure, additional, Duffourd, Yannis, additional, Faivre, Laurence, additional, Thevenon, Julien, additional, and Thauvin‐Robinet, Christel, additional
Published: 2018
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32. Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis

Author: Nambot, Sophie, primary, Thevenon, Julien, additional, Kuentz, Paul, additional, Duffourd, Yannis, additional, Tisserant, Emilie, additional, Bruel, Ange-Line, additional, Mosca-Boidron, Anne-Laure, additional, Masurel-Paulet, Alice, additional, Lehalle, Daphné, additional, Jean-Marçais, Nolwenn, additional, Lefebvre, Mathilde, additional, Vabres, Pierre, additional, El Chehadeh-Djebbar, Salima, additional, Philippe, Christophe, additional, Tran Mau-Them, Frederic, additional, St-Onge, Judith, additional, Jouan, Thibaud, additional, Chevarin, Martin, additional, Poé, Charlotte, additional, Carmignac, Virginie, additional, Vitobello, Antonio, additional, Callier, Patrick, additional, Rivière, Jean-Baptiste, additional, Faivre, Laurence, additional, and Thauvin-Robinet, Christel, additional
Published: 2018
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33. Further delineation of theMECP2duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

Author: Miguet, Marguerite, primary, Faivre, Laurence, additional, Amiel, Jeanne, additional, Nizon, Mathilde, additional, Touraine, Renaud, additional, Prieur, Fabienne, additional, Pasquier, Laurent, additional, Lefebvre, Mathilde, additional, Thevenon, Julien, additional, Dubourg, Christèle, additional, Julia, Sophie, additional, Sarret, Catherine, additional, Remerand, Ganaëlle, additional, Francannet, Christine, additional, Laffargue, Fanny, additional, Boespflug-Tanguy, Odile, additional, David, Albert, additional, Isidor, Bertrand, additional, Vigneron, Jacqueline, additional, Leheup, Bruno, additional, Lambert, Laetitia, additional, Philippe, Christophe, additional, Béri-Dexheimer, Mylène, additional, Cuisset, Jean-Marie, additional, Andrieux, Joris, additional, Plessis, Ghislaine, additional, Toutain, Annick, additional, Guibaud, Laurent, additional, Cormier-Daire, Valérie, additional, Rio, Marlene, additional, Bonnefont, Jean-Paul, additional, Echenne, Bernard, additional, Journel, Hubert, additional, Burglen, Lydie, additional, Chantot-Bastaraud, Sandrine, additional, Bienvenu, Thierry, additional, Baumann, Clarisse, additional, Perrin, Laurence, additional, Drunat, Séverine, additional, Jouk, Pierre-Simon, additional, Dieterich, Klaus, additional, Devillard, Françoise, additional, Lacombe, Didier, additional, Philip, Nicole, additional, Sigaudy, Sabine, additional, Moncla, Anne, additional, Missirian, Chantal, additional, Badens, Catherine, additional, Perreton, Nathalie, additional, Thauvin-Robinet, Christel, additional, AChro-Puce, Réseau, additional, Pedespan, Jean-Michel, additional, Rooryck, Caroline, additional, Goizet, Cyril, additional, Vincent-Delorme, Catherine, additional, Duban-Bedu, Bénédicte, additional, Bahi-Buisson, Nadia, additional, Afenjar, Alexandra, additional, Maincent, Kim, additional, Héron, Delphine, additional, Alessandri, Jean-Luc, additional, Martin-Coignard, Dominique, additional, Lesca, Gaëtan, additional, Rossi, Massimiliano, additional, Raynaud, Martine, additional, Callier, Patrick, additional, Mosca-Boidron, Anne-Laure, additional, Marle, Nathalie, additional, Coutton, Charles, additional, Satre, Véronique, additional, Caignec, Cédric Le, additional, Malan, Valérie, additional, Romana, Serge, additional, Keren, Boris, additional, Tabet, Anne-Claude, additional, Kremer, Valérie, additional, Scheidecker, Sophie, additional, Vigouroux, Adeline, additional, Lackmy-Port-Lis, Marilyn, additional, Sanlaville, Damien, additional, Till, Marianne, additional, Carneiro, Maryline, additional, Gilbert-Dussardier, Brigitte, additional, Willems, Marjolaine, additional, Van Esch, Hilde, additional, Portes, Vincent Des, additional, and El Chehadeh, Salima, additional
Published: 2018
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34. Rare variants in the genetic background modulate the expressivity of neurodevelopmental disorders

Author: Pizzo, Lucilla, primary, Jensen, Matthew, additional, Polyak, Andrew, additional, Rosenfeld, Jill A., additional, Mannik, Katrin, additional, Krishnan, Arjun, additional, McCready, Elizabeth, additional, Pichon, Olivier, additional, Le Caignec, Cedric, additional, Van Dijck, Anke, additional, Pope, Kate, additional, Voorhoeve, Els, additional, Yoon, Jieun, additional, Stankiewicz, Paweł, additional, Cheung, Sau Wai, additional, Pazuchanics, Damian, additional, Huber, Emily, additional, Kumar, Vijay, additional, Kember, Rachel, additional, Mari, Francesca, additional, Curró, Aurora, additional, Castiglia, Lucia, additional, Galesi, Ornella, additional, Avola, Emanuela, additional, Mattina, Teresa, additional, Fichera, Marco, additional, Mandarà, Luana, additional, Vincent, Marie, additional, Nizon, Mathilde, additional, Mercier, Sandra, additional, Bénéteau, Claire, additional, Blesson, Sophie, additional, Martin-Coignard, Dominique, additional, Mosca-Boidron, Anne-Laure, additional, Caberg, Jean-Hubert, additional, Bucan, Maja, additional, Zeesman, Susan, additional, Nowaczyk, Małgorzata J.M., additional, Lefebvre, Mathilde, additional, Faivre, Laurence, additional, Callier, Patrick, additional, Skinner, Cindy, additional, Keren, Boris, additional, Perrine, Charles, additional, Prontera, Paolo, additional, Marle, Nathalie, additional, Renieri, Alessandra, additional, Reymond, Alexandre, additional, Kooy, R Frank, additional, Isidor, Bertrand, additional, Schwartz, Charles, additional, Romano, Corrado, additional, Sistermans, Erik, additional, Amor, David J., additional, Andrieux, Joris, additional, and Girirajan, Santhosh, additional
Published: 2018
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35. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author: UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, Faivre, Laurence, UCL - (SLuc) Département de biologie clinique et d'anatomie pathologique, UCL - (SLuc) Centre de génétique médicale UCL, UCL - SSS/IREC/SLUC - Pôle St.-Luc, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, and Faivre, Laurence
Abstract: Cohesinopathies are rare neurodevelopmental disorders arising from a dysfunction in the cohesin pathway, which enables chromosome segregation and regulates gene transcription. So far, eight genes from this pathway have been reported in human disease. STAG1 belongs to the STAG subunit of the core cohesin complex, along with five other subunits. This work aimed to identify the phenotype ascribed to STAG1 mutations. METHODS: Among patients referred for intellectual disability (ID) in genetics departments worldwide, array-comparative genomic hybridisation (CGH), gene panel, whole-exome sequencing or whole-genome sequencing were performed following the local diagnostic standards. RESULTS: A mutation in STAG1 was identified in 17 individuals from 16 families, 9 males and 8 females aged 2-33 years. Four individuals harboured a small microdeletion encompassing STAG1; three individuals from two families had an intragenic STAG1 deletion. Six deletions were identified by array-CGH, one by whole-exome sequencing. Whole-exome sequencing found de novo heterozygous missense or frameshift STAG1 variants in eight patients, a panel of genes involved in ID identified a missense and a frameshift variant in two individuals. The 17 patients shared common facial features, with wide mouth and deep-set eyes. Four individuals had mild microcephaly, seven had epilepsy. CONCLUSIONS: We report an international series of 17 individuals from 16 families presenting with syndromic unspecific ID that could be attributed to a STAG1 deletion or point mutation. This first series reporting the phenotype ascribed to mutation in STAG1 highlights the importance of data sharing in the field of rare disorders.
Published: 2017

36. STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author: Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, Faivre, Laurence, Genetica Klinische Genetica, Child Health, Genetica Sectie Genoomdiagnostiek, Lehalle, Daphné, Mosca-Boidron, Anne-Laure, Begtrup, Amber, Boute-Benejean, Odile, Charles, Perrine, Cho, Megan T, Clarkson, Amanda, Devinsky, Orrin, Duffourd, Yannis, Duplomb-Jego, Laurence, Gérard, Bénédicte, Jacquette, Aurélia, Kuentz, Paul, Masurel-Paulet, Alice, McDougall, Carey, Moutton, Sébastien, Olivié, Hilde, Park, Soo-Mi, Rauch, Anita, Revencu, Nicole, Rivière, Jean-Baptiste, Rubin, Karol, Simonic, Ingrid, Shears, Deborah J, Smol, Thomas, Taylor Tavares, Ana Lisa, Terhal, Paulien, Thevenon, Julien, Van Gassen, Koen, Vincent-Delorme, Catherine, Willemsen, Marjolein H, Wilson, Golder N, Zackai, Elaine, Zweier, Christiane, Callier, Patrick, Thauvin-Robinet, Christel, and Faivre, Laurence
Published: 2017

37. Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

Author: El Chehadeh, Salima, Marle, Nathalie, Callier, Patrick, Mosca-Boidron, Anne-Laure, Mugneret, Francine, Aral, Bernard, Thevenon, Julien, Thauvin-Robinet, Christel, Faivre, Laurence, Service de génétique médicale, CHU Strasbourg-Hôpital de Hautepierre [Strasbourg], Laboratoire de cytogénétique (CHU de Dijon), Centre Hospitalier Universitaire de Dijon - Hôpital François Mitterrand (CHU Dijon), Centre de génétique - Centre de référence des maladies rares, anomalies du développement et syndromes malformatifs (CHU de Dijon), Service de Biologie Moléculaire, and FHU TRANSLAD (CHU de Dijon)
Subjects: Genetic, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics
Abstract: International audience; Duplication of the Xq28 region, involving MECP2 (dupMECP2), has been primarily described in males with severe developmental delay, spasticity, epilepsy, stereotyped movements and recurrent infections. Carrier mothers are usually asymptomatic with an extremely skewed X chromosome inactivation (XCI) pattern. We report a series of six novel symptomatic females carrying a de novo interstitial dupMECP2, and review the 14 symptomatic females reported to date, with the aim to further delineate their phenotype and give clues for genetic counselling. One patient was adopted and among the other 19 patients, seven (37%) had inherited their duplication from their mother, including three mildly (XCI: 70/30, 63/37, 100/0 in blood and random in saliva), one moderately (XCI: random) and three severely (XCI: uninformative and 88/12) affected patients. After combining our data with data from the literature, we could not demonstrate a correlation between XCI in the blood or duplication size and the severity of the phenotype, or explain the presence of a phenotype in these females. These findings confirm that an abnormal phenotype, even severe, can be a rare event in females born to asymptomatic carrier mothers, making genetic counselling difficult in couples at risk in terms of prognosis, in particular in prenatal cases.
Published: 2016

38. A framework to identify contributing genes in patients with Phelan-McDermid syndrome

Author: Tabet, Anne-Claude, primary, Rolland, Thomas, additional, Ducloy, Marie, additional, Lévy, Jonathan, additional, Buratti, Julien, additional, Mathieu, Alexandre, additional, Haye, Damien, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Passemard, Sandrine, additional, Capri, Yline, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Marey, Isabelle, additional, Jacquette, Aurélia, additional, Whalen, Sandra, additional, Pipiras, Eva, additional, Benzacken, Brigitte, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Héron, Delphine, additional, Le Caignec, Cédric, additional, Beneteau, Claire, additional, Pichon, Olivier, additional, Isidor, Bertrand, additional, David, Albert, additional, El Khattabi, Laila, additional, Kemeny, Stephan, additional, Gouas, Laetitia, additional, Vago, Philippe, additional, Mosca-Boidron, Anne-Laure, additional, Faivre, Laurence, additional, Missirian, Chantal, additional, Philip, Nicole, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Satre, Véronique, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vuillaume, Marie-Laure, additional, Rooryck, Caroline, additional, Lacombe, Didier, additional, Pinson, Lucile, additional, Gatinois, Vincent, additional, Puechberty, Jacques, additional, Chiesa, Jean, additional, Lespinasse, James, additional, Dubourg, Christèle, additional, Quelin, Chloé, additional, Fradin, Mélanie, additional, Journel, Hubert, additional, Toutain, Annick, additional, Martin, Dominique, additional, Benmansour, Abdelamdjid, additional, Leblond, Claire S., additional, Toro, Roberto, additional, Amsellem, Frédérique, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional
Published: 2017
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39. A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Author: Tabet, Anne-Claude, primary, Rolland, Thomas, additional, Ducloy, Marie, additional, Lévy, Jonathan, additional, Buratti, Julien, additional, Mathieu, Alexandre, additional, Haye, Damien, additional, Perrin, Laurence, additional, Dupont, Céline, additional, Passemard, Sandrine, additional, Capri, Yline, additional, Verloes, Alain, additional, Drunat, Séverine, additional, Keren, Boris, additional, Mignot, Cyril, additional, Marey, Isabelle, additional, Jacquette, Aurélia, additional, Whalen, Sandra, additional, Pipiras, Eva, additional, Benzacken, Brigitte, additional, Chantot-Bastaraud, Sandra, additional, Afenjar, Alexandra, additional, Héron, Delphine, additional, Le Caignec, Cédric, additional, Beneteau, Claire, additional, Pichon, Olivier, additional, Isidor, Bertrand, additional, David, Albert, additional, Dupont, Jean-Michel, additional, Kemeny, Stephan, additional, Gouas, Laetitia, additional, Vago, Philippe, additional, Mosca-Boidron, Anne-Laure, additional, Faivre, Laurence, additional, Missirian, Chantal, additional, Philip, Nicole, additional, Sanlaville, Damien, additional, Edery, Patrick, additional, Satre, Véronique, additional, Coutton, Charles, additional, Devillard, Françoise, additional, Dieterich, Klaus, additional, Vuillaume, Marie-Laure, additional, Rooryck, Caroline, additional, Lacombe, Didier, additional, Pinson, Lucile, additional, Gatinois, Vincent, additional, Puechberty, Jacques, additional, Chiesa, Jean, additional, Lespinasse, James, additional, Dubourg, Christèle, additional, Quelin, Chloé, additional, Fradin, Mélanie, additional, Journel, Hubert, additional, Toutain, Annick, additional, Martin, Dominique, additional, Benmansour, Abdelamdjid, additional, Toro, Roberto, additional, Amsellem, Frédérique, additional, Delorme, Richard, additional, and Bourgeron, Thomas, additional
Published: 2017
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40. Disruption of the ATXN1–CIC complex causes a spectrum of neurobehavioral phenotypes in mice and humans

Author: Lu, Hsiang-Chih, primary, Tan, Qiumin, additional, Rousseaux, Maxime W C, additional, Wang, Wei, additional, Kim, Ji-Yoen, additional, Richman, Ronald, additional, Wan, Ying-Wooi, additional, Yeh, Szu-Ying, additional, Patel, Jay M, additional, Liu, Xiuyun, additional, Lin, Tao, additional, Lee, Yoontae, additional, Fryer, John D, additional, Han, Jing, additional, Chahrour, Maria, additional, Finnell, Richard H, additional, Lei, Yunping, additional, Zurita-Jimenez, Maria E, additional, Ahimaz, Priyanka, additional, Anyane-Yeboa, Kwame, additional, Van Maldergem, Lionel, additional, Lehalle, Daphne, additional, Jean-Marcais, Nolwenn, additional, Mosca-Boidron, Anne-Laure, additional, Thevenon, Julien, additional, Cousin, Margot A, additional, Bro, Della E, additional, Lanpher, Brendan C, additional, Klee, Eric W, additional, Alexander, Nora, additional, Bainbridge, Matthew N, additional, Orr, Harry T, additional, Sillitoe, Roy V, additional, Ljungberg, M Cecilia, additional, Liu, Zhandong, additional, Schaaf, Christian P, additional, and Zoghbi, Huda Y, additional
Published: 2017
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41. Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

Author: Quartier, Angélique, primary, Poquet, Hélène, additional, Gilbert-Dussardier, Brigitte, additional, Rossi, Massimiliano, additional, Casteleyn, Anne-Sophie, additional, Portes, Vincent des, additional, Feger, Claire, additional, Nourisson, Elsa, additional, Kuentz, Paul, additional, Redin, Claire, additional, Thevenon, Julien, additional, Mosca-Boidron, Anne-Laure, additional, Callier, Patrick, additional, Muller, Jean, additional, Lesca, Gaetan, additional, Huet, Frédéric, additional, Geoffroy, Véronique, additional, El Chehadeh, Salima, additional, Jung, Matthieu, additional, Trojak, Benoit, additional, Le Gras, Stéphanie, additional, Lehalle, Daphné, additional, Jost, Bernard, additional, Maury, Stéphanie, additional, Masurel, Alice, additional, Edery, Patrick, additional, Thauvin-Robinet, Christel, additional, Gérard, Bénédicte, additional, Mandel, Jean-Louis, additional, Faivre, Laurence, additional, and Piton, Amélie, additional
Published: 2017
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42. STAG1mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability

Author: Lehalle, Daphné, primary, Mosca-Boidron, Anne-Laure, additional, Begtrup, Amber, additional, Boute-Benejean, Odile, additional, Charles, Perrine, additional, Cho, Megan T, additional, Clarkson, Amanda, additional, Devinsky, Orrin, additional, Duffourd, Yannis, additional, Duplomb-Jego, Laurence, additional, Gérard, Bénédicte, additional, Jacquette, Aurélia, additional, Kuentz, Paul, additional, Masurel-Paulet, Alice, additional, McDougall, Carey, additional, Moutton, Sébastien, additional, Olivié, Hilde, additional, Park, Soo-Mi, additional, Rauch, Anita, additional, Revencu, Nicole, additional, Rivière, Jean-Baptiste, additional, Rubin, Karol, additional, Simonic, Ingrid, additional, Shears, Deborah J, additional, Smol, Thomas, additional, Taylor Tavares, Ana Lisa, additional, Terhal, Paulien, additional, Thevenon, Julien, additional, Van Gassen, Koen, additional, Vincent-Delorme, Catherine, additional, Willemsen, Marjolein H, additional, Wilson, Golder N, additional, Zackai, Elaine, additional, Zweier, Christiane, additional, Callier, Patrick, additional, Thauvin-Robinet, Christel, additional, and Faivre, Laurence, additional
Published: 2017
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43. Further Evidence for Dlgap2 as Strong Autism Spectrum Disorders/Intellectual Disability Candidate Gene

Author: Poquet, Helene, primary, Faivre, Laurence, additional, Chehadeh, Salima El, additional, Morton, Jenny, additional, McMullan, Dominic, additional, Hamilton, Susan, additional, Goel, Himanshu, additional, Isidor, Bertrand, additional, Caignec, Cedric Le, additional, Andrieux, Joris, additional, Delobel, Bruno, additional, Pipiras, Eva, additional, Tabet, Anne Claude, additional, Delahaye, Andree, additional, Depontual, Loic, additional, Lefebvre, Mathilde, additional, Jacquot, Caroline, additional, Masurel, Alice, additional, Huet, Frederic, additional, Pinoit, Jean Michel, additional, Meille, Vincent, additional, Benetti, Maud, additional, Ponavoy, Eddy, additional, Chauvet Gelinier, Jean Christophe, additional, Trojak, Benoit, additional, Bonin, Bernard, additional, Juif, Christine, additional, de la Salle, Anne Collinet, additional, Robinet, Christel Thauvin, additional, Lagarde, Nathalie, additional, Henry, Celine, additional, Marle, Nathalie, additional, Callier, Patrick, additional, and Mosca Boidron, Anne Laure, additional
Published: 2017
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44. Primrose syndrome: a phenotypic comparison of patients with a ZBTB20missense variant versus a 3q13.31 microdeletion including ZBTB20

Author: 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
Abstract: Primrose syndrome is characterized by variable intellectual deficiency, behavior disorders, facial features with macrocephaly, and a progressive phenotype with hearing loss and ectopic calcifications, distal muscle wasting, and contractures. In 2014, ZBTB20variants were identified as responsible for this syndrome. Indeed, ZBTB20plays an important role in cognition, memory, learning processes, and has a transcription repressive effect on numerous genes. A more severe phenotype was discussed in patients with missense single nucleotide variants than in those with large deletions. Here, we report on the clinical and molecular results of 14 patients: 6 carrying ZBTB20missense SNVs, 1 carrying an early truncating indel, and 7 carrying 3q13.31 deletions, recruited through the AnDDI-Rares network. We compared their phenotypes and reviewed the data of the literature, in order to establish more powerful phenotype–genotype correlations. All 57 patients presented mild-to-severe ID and/or a psychomotor delay. Facial features were similar with macrocephaly, prominent forehead, downslanting palpebral fissures, ptosis, and large ears. Hearing loss was far more frequent in patients with missense SNVs (p= 0.002), ectopic calcification, progressive muscular wasting, and contractures were observed only in patients with missense SNVs (pnonsignificant). Corpus callosum dysgenesis (p= 0.00004), hypothyroidism (p= 0.047), and diabetes were also more frequent in this group. However, the median age was 9.4 years in patients with deletions and truncating variant compared with 15.1 years in those with missense SNVs. Longer follow-up will be necessary to determine whether the phenotype of patients with deletions is also progressive.
Published: 2020
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45. De novo TBR1variants cause a neurocognitive phenotype with ID and autistic traits: report of 25 new individuals and review of the literature

Author: Nambot, Sophie, Faivre, Laurence, Mirzaa, Ghayda, Thevenon, Julien, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Goldenberg, Alice, Le Meur, Nathalie, Charollais, Aude, Mignot, Cyril, Petit, Florence, Rossi, Massimiliano, Metreau, Julia, Layet, Valérie, Amram, Daniel, Boute-Bénéjean, Odile, Bhoj, Elizabeth, Cousin, Margot A., Kruisselbrink, Teresa M., Lanpher, Brendan C., Klee, Eric W., Fiala, Elise, Grange, Dorothy K., Meschino, Wendy S., Hiatt, Susan M., Cooper, Gregory M., Olivié, Hilde, Smith, Wendy E., Dumas, Meghan, Lehman, Anna, Inglese, Cara, Nizon, Mathilde, Guerrini, Renzo, Vetro, Annalisa, Kaplan, Eitan S., Miramar, Dolores, Van Gils, Julien, Fergelot, Patricia, Bodamer, Olaf, Herkert, Johanna C., Pajusalu, Sander, Õunap, Katrin, Filiano, James J., Smol, Thomas, Piton, Amélie, Gérard, Bénédicte, Chantot-Bastaraud, Sandra, Bienvenu, Thierry, Li, Dong, Juusola, Jane, Devriendt, Koen, Bilan, Frederic, Poé, Charlotte, Chevarin, Martin, Jouan, Thibaud, Tisserant, Emilie, Rivière, Jean-Baptiste, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Dobyns, William B., Hevner, Robert, and Thauvin-Robinet, Christel
Abstract: TBR1, a T-box transcription factor expressed in the cerebral cortex, regulates the expression of several candidate genes for autism spectrum disorders (ASD). Although TBR1has been reported as a high-confidence risk gene for ASD and intellectual disability (ID) in functional and clinical reports since 2011, TBR1has only recently been recorded as a human disease gene in the OMIM database. Currently, the neurodevelopmental disorders and structural brain anomalies associated with TBR1variants are not well characterized. Through international data sharing, we collected data from 25 unreported individuals and compared them with data from the literature. We evaluated structural brain anomalies in seven individuals by analysis of MRI images, and compared these with anomalies observed in TBR1mutant mice. The phenotype included ID in all individuals, associated to autistic traits in 76% of them. No recognizable facial phenotype could be identified. MRI analysis revealed a reduction of the anterior commissure and suggested new features including dysplastic hippocampus and subtle neocortical dysgenesis. This report supports the role of TBR1in ID associated with autistic traits and suggests new structural brain malformations in humans. We hope this work will help geneticists to interpret TBR1variants and diagnose ASD probands.
Published: 2020
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46. Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

Author: Thevenon, Julien, primary, Souchay, Céline, additional, Seabold, Gail K, additional, Dygai-Cochet, Inna, additional, Callier, Patrick, additional, Gay, Sébastien, additional, Corbin, Lucie, additional, Duplomb, Laurence, additional, Thauvin-Robinet, Christel, additional, Masurel-Paulet, Alice, additional, El Chehadeh, Salima, additional, Avila, Magali, additional, Minot, Delphine, additional, Guedj, Eric, additional, Chancenotte, Sophie, additional, Bonnet, Marlène, additional, Lehalle, Daphne, additional, Wang, Ya-Xian, additional, Kuentz, Paul, additional, Huet, Frédéric, additional, Mosca-Boidron, Anne-Laure, additional, Marle, Nathalie, additional, Petralia, Ronald S, additional, and Faivre, Laurence, additional
Published: 2015
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47. Large national series of patients with Xq28 duplication involving MECP2: Delineation of brain MRI abnormalities in 30 affected patients

Author: El Chehadeh, Salima, primary, Faivre, Laurence, additional, Mosca‐Boidron, Anne‐Laure, additional, Malan, Valérie, additional, Amiel, Jeanne, additional, Nizon, Mathilde, additional, Touraine, Renaud, additional, Prieur, Fabienne, additional, Pasquier, Laurent, additional, Callier, Patrick, additional, Lefebvre, Mathilde, additional, Marle, Nathalie, additional, Dubourg, Christèle, additional, Julia, Sophie, additional, Sarret, Catherine, additional, Francannet, Christine, additional, Laffargue, Fanny, additional, Boespflug‐Tanguy, Odile, additional, David, Albert, additional, Isidor, Bertrand, additional, Le Caignec, Cédric, additional, Vigneron, Jacqueline, additional, Leheup, Bruno, additional, Lambert, Laetitia, additional, Philippe, Christophe, additional, Cuisset, Jean‐Marie, additional, Andrieux, Joris, additional, Plessis, Ghislaine, additional, Toutain, Annick, additional, Goldenberg, Alice, additional, Cormier‐Daire, Valérie, additional, Rio, Marlène, additional, Bonnefont, Jean‐Paul, additional, Thevenon, Julien, additional, Echenne, Bernard, additional, Journel, Hubert, additional, Afenjar, Alexandra, additional, Burglen, Lydie, additional, Bienvenu, Thierry, additional, Addor, Marie‐Claude, additional, Lebon, Sébastien, additional, Martinet, Danièle, additional, Baumann, Clarisse, additional, Perrin, Laurence, additional, Drunat, Séverine, additional, Jouk, Pierre‐Simon, additional, Devillard, Françoise, additional, Coutton, Charles, additional, Lacombe, Didier, additional, Delrue, Marie‐Ange, additional, Philip, Nicole, additional, Moncla, Anne, additional, Badens, Catherine, additional, Perreton, Nathalie, additional, Masurel, Alice, additional, Thauvin‐Robinet, Christel, additional, Portes, Vincent Des, additional, and Guibaud, Laurent, additional
Published: 2015
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48. A de novo microdeletion of SEMA5A in a boy with autism spectrum disorder and intellectual disability

Author: Mosca-Boidron, Anne-Laure, primary, Gueneau, Lucie, additional, Huguet, Guillaume, additional, Goldenberg, Alice, additional, Henry, Céline, additional, Gigot, Nadège, additional, Pallesi-Pocachard, Emilie, additional, Falace, Antonio, additional, Duplomb, Laurence, additional, Thevenon, Julien, additional, Duffourd, Yannis, additional, ST-Onge, Judith, additional, Chambon, Pascal, additional, Rivière, Jean-Baptiste, additional, Thauvin-Robinet, Christel, additional, Callier, Patrick, additional, Marle, Nathalie, additional, Payet, Muriel, additional, Ragon, Clemence, additional, Goubran Botros, Hany, additional, Buratti, Julien, additional, Calderari, Sophie, additional, Dumas, Guillaume, additional, Delorme, Richard, additional, Lagarde, Nathalie, additional, Pinoit, Jean-Michel, additional, Rosier, Antoine, additional, Masurel-Paulet, Alice, additional, Cardoso, Carlos, additional, Mugneret, Francine, additional, Saugier-Veber, Pascale, additional, Campion, Dominique, additional, Faivre, Laurence, additional, and Bourgeron, Thomas, additional
Published: 2015
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49. 9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

Author: Nambot, Sophie, primary, Masurel, Alice, additional, El Chehadeh, Salima, additional, Mosca-Boidron, Anne-Laure, additional, Thauvin-Robinet, Christel, additional, Lefebvre, Mathilde, additional, Marle, Nathalie, additional, Thevenon, Julien, additional, Perez-Martin, Stéphanie, additional, Dulieu, Véronique, additional, Huet, Frédéric, additional, Plessis, Ghislaine, additional, Andrieux, Joris, additional, Jouk, Pierre-Simon, additional, Billy-Lopez, Gipsy, additional, Coutton, Charles, additional, Morice-Picard, Fanny, additional, Delrue, Marie-Ange, additional, Heron, Delphine, additional, Rooryck, Caroline, additional, Goldenberg, Alice, additional, Saugier-Veber, Pascale, additional, Joly-Hélas, Géraldine, additional, Calenda, Patricia, additional, Kuentz, Paul, additional, Manouvrier-Hanu, Sylvie, additional, Dupuis-Girod, Sophie, additional, Callier, Patrick, additional, and Faivre, Laurence, additional
Published: 2015
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50. 6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

Author: Desch, Laurent, primary, Marle, Nathalie, additional, Mosca-Boidron, Anne-Laure, additional, Faivre, Laurence, additional, Eliade, Marie, additional, Payet, Muriel, additional, Ragon, Clemence, additional, Thevenon, Julien, additional, Aral, Bernard, additional, Ragot, Sylviane, additional, Ardalan, Azarnouche, additional, Dhouibi, Nabila, additional, Bensignor, Candace, additional, Thauvin-Robinet, Christel, additional, El Chehadeh, Salima, additional, and Callier, Patrick, additional
Published: 2015
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