Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability
Bruel, Ange‐Line, Vitobello, Antonio, Tran Mau‐Them, Frédéric, Nambot, Sophie, Sorlin, Arthur, Denommé‐Pichon, Anne‐Sophie, Delanne, Julian, Moutton, Sébastien, Callier, Patrick, Duffourd, Yannis, Philippe, Christophe, Faivre, Laurence, Thauvin‐Robinet, Christel
Published in Clinical genetics (01.11.2020)
Published in Clinical genetics (01.11.2020)
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SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
Cordovado, Amélie, Schaettin, Martina, Jeanne, Médéric, Panasenkava, Veranika, Denommé-Pichon, Anne-Sophie, Keren, Boris, Mignot, Cyril, Doco-Fenzy, Martine, Rodan, Lance, Ramsey, Keri, Narayanan, Vinodh, Jones, Julie R, Prijoles, Eloise J, Mitchell, Wendy G, Ozmore, Jillian R, Juliette, Kali, Torti, Erin, Normand, Elizabeth A, Granger, Leslie, Petersen, Andrea K, Au, Margaret G, Matheny, Juliann P, Phornphutkul, Chanika, Chambers, Mary-Kathryn, Fernández-Ramos, Joaquín-Alejandro, López-Laso, Eduardo, Kruer, Michael C, Bakhtiari, Somayeh, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Mei, Davide, Pisano, Tiziana, Guerrini, Renzo, Louie, Raymond J, Childers, Anna, Everman, David B, Isidor, Betrand, Audebert-Bellanger, Séverine, Odent, Sylvie, Bonneau, Dominique, Gilbert-Dussardier, Brigitte, Redon, Richard, Bézieau, Stéphane, Laumonnier, Frédéric, Stoeckli, Esther T, Toutain, Annick, Vuillaume, Marie-Laure
Published in Human molecular genetics (29.09.2022)
Published in Human molecular genetics (29.09.2022)
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Congenital hypothyroidism and hearing loss without inner ear malformation: Think TPO
Ziegler, Alban, Denommé‐Pichon, Anne‐Sophie, Boucher, Sophie, Bouzamondo, Nathalie, Colin, Estelle, Dieu, Xavier, Jean Yves, Tanguy, Bouhours, Natacha, Rouleau, Stéphanie, Coutant, Régis, Rodien, Patrice, Prunier, Delphine, Bonneau, Dominique
Published in Clinical genetics (01.04.2021)
Published in Clinical genetics (01.04.2021)
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A novel mutation in the transmembrane 6 domain of GABBR2 leads to a Rett‐like phenotype
Vuillaume, Marie‐Laure, Jeanne, Médéric, Xue, Li, Blesson, Sophie, Denommé‐Pichon, Anne‐Sophie, Alirol, Servane, Brulard, Céline, Colin, Estelle, Isidor, Bertrand, Gilbert‐Dussardier, Brigitte, Odent, Sylvie, Parent, Philippe, Donnart, Audrey, Redon, Richard, Bézieau, Stéphane, Rondard, Philippe, Laumonnier, Frédéric, Toutain, Annick
Published in Annals of neurology (01.02.2018)
Published in Annals of neurology (01.02.2018)
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A second look at exome sequencing data: detecting mobile elements insertion in a rare disease cohort
Garret, Philippine, Chevarin, Martin, Vitobello, Antonio, Verdez, Simon, Fournier, Cyril, Verloes, Alain, Tisserant, Emilie, Vabres, Pierre, Prevel, Orlane, Philippe, Christophe, Denommé-Pichon, Anne-Sophie, Bruel, Ange-Line, Mau-Them, Frédéric Tran, Safraou, Hana, Boughalem, Aïcha, Costa, Jean-Marc, Trost, Detlef, Thauvin-Robinet, Christel, Faivre, Laurence, Duffourd, Yannis
Published in European journal of human genetics : EJHG (01.07.2023)
Published in European journal of human genetics : EJHG (01.07.2023)
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AICA‐ribosiduria due to ATIC deficiency: Delineation of the phenotype with three novel cases, and long‐term update on the first case
Ramond, Francis, Rio, Marlène, Héron, Bénédicte, Imbard, Apolline, Marie, Sandrine, Billiemaz, Kareen, Denommé‐Pichon, Anne‐Sophie, Kuentz, Paul, Ceballos, Irène, Piraud, Monique, Vincent, Marie‐Françoise, Touraine, Renaud
Published in Journal of inherited metabolic disease (01.11.2020)
Published in Journal of inherited metabolic disease (01.11.2020)
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Prenatal exome sequencing, a powerful tool for improving the description of prenatal features associated with genetic disorders
Thauvin‐Robinet, Christel, Garde, Aurore, Delanne, Julian, Racine, Caroline, Rousseau, Thierry, Simon, Emmanuel, François, Michel, Moutton, Sebastien, Sylvie, Odent, Quelin, Chloe, Morel, Godelieve, Goldenberg, Alice, Guerrot, Anne‐Marie, Vera, Gabriella, Gruchy, Nicolas, Colson, Cindy, Boute, Odile, Abel, Carine, Putoux, Audrey, Amiel, Jeanne, Guichet, Agnes, Isidor, Bertrand, Deiller, Caroline, Wells, Constance, Rooryck, Caroline, Legendre, Marine, Francannet, Christine, Dard, Rodolphe, Sigaudy, Sabine, Bruel, Ange‐Line, Safraou, Hana, Denommé‐Pichon, Anne‐Sophie, Nambot, Sophie, Asensio, Marie‐Laure Humbert, Binquet, Christine, Duffourd, Yannis, Vitobello, Antonio, Philippe, Christophe, Faivre, Laurence, Tran‐Mau‐Them, Frédéric, Bourgon, Nicolas
Published in Prenatal diagnosis (13.08.2024)
Published in Prenatal diagnosis (13.08.2024)
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Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome
Marbach, Felix, Lipska‐Ziętkiewicz, Beata S., Knurowska, Agata, Michaud, Vincent, Margot, Henri, Lespinasse, James, Tran Mau Them, Frédéric, Coubes, Christine, Park, Joohyun, Grosch, Sarah, Roggia, Cristiana, Grasshoff, Ute, Kalsner, Louisa, Denommé‐Pichon, Anne‐Sophie, Afenjar, Alexandra, Héron, Bénédicte, Keren, Boris, Caro, Pilar, Schaaf, Christian P.
Published in American journal of medical genetics. Part A (01.09.2022)
Published in American journal of medical genetics. Part A (01.09.2022)
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Heterozygous and homozygous variants in STX1A cause a neurodevelopmental disorder with or without epilepsy
Luppe, Johannes, Sticht, Heinrich, Lecoquierre, François, Goldenberg, Alice, Gorman, Kathleen M, Molloy, Ben, Agolini, Emanuele, Novelli, Antonio, Briuglia, Silvana, Kuismin, Outi, Marcelis, Carlo, Vitobello, Antonio, Denommé-Pichon, Anne-Sophie, Julia, Sophie, Lemke, Johannes R, Abou Jamra, Rami, Platzer, Konrad
Published in European journal of human genetics : EJHG (01.03.2023)
Published in European journal of human genetics : EJHG (01.03.2023)
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ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model
Vitobello, Antonio, Mazel, Benoit, Lelianova, Vera G., Zangrandi, Alice, Petitto, Evelina, Suckling, Jason, Salpietro, Vincenzo, Meyer, Robert, Elbracht, Miriam, Kurth, Ingo, Eggermann, Thomas, Benlaouer, Ouafa, Lall, Gurprit, Tonevitsky, Alexander G., Scott, Daryl A., Chan, Katie M., Rosenfeld, Jill A., Nambot, Sophie, Safraou, Hana, Bruel, Ange-Line, Denommé-Pichon, Anne-Sophie, Tran Mau-Them, Frédéric, Philippe, Christophe, Duffourd, Yannis, Guo, Hui, Petersen, Andrea K., Granger, Leslie, Crunk, Amy, Bayat, Allan, Striano, Pasquale, Zara, Federico, Scala, Marcello, Thomas, Quentin, Delahaye, Andrée, de Sainte Agathe, Jean-Madeleine, Buratti, Julien, Kozlov, Serguei V., Faivre, Laurence, Thauvin-Robinet, Christel, Ushkaryov, Yuri
Published in American journal of human genetics (04.08.2022)
Published in American journal of human genetics (04.08.2022)
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Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis
Burgel, Pierre-Régis, Munck, Anne, Durieu, Isabelle, Chiron, Raphaël, Mely, Laurent, Prevotat, Anne, Murris-Espin, Marlene, Porzio, Michele, Abely, Michel, Reix, Philippe, Marguet, Christophe, Macey, Julie, Sermet-Gaudelus, Isabelle, Corvol, Harriet, Bui, Stéphanie, Lemonnier, Lydie, Dehillotte, Clémence, Da Silva, Jennifer, Paillasseur, Jean-Louis, Hubert, Dominique
Published in American journal of respiratory and critical care medicine (15.01.2020)
Published in American journal of respiratory and critical care medicine (15.01.2020)
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Expanding MNS1 Heterotaxy Phenotype
Maraval, Julien, Delahaye‐Duriez, Andrée, Racine, Caroline, Bruel, Ange‐Line, Denommé‐Pichon, Anne‐Sophie, Gaudillat, Léa, Thauvin‐Robinet, Christel, Lucain, Marie, Satre, Véronique, Coutton, Charles, de Sainte Agathe, Jean‐Madelaine, Keren, Boris, Faivre, Laurence
Published in American journal of medical genetics. Part A (05.09.2024)
Published in American journal of medical genetics. Part A (05.09.2024)
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CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD
Pavinato, Lisa, Delle Vedove, Andrea, Carli, Diana, Ferrero, Marta, Carestiato, Silvia, Howe, Jennifer L, Agolini, Emanuele, Coviello, Domenico A, van de Laar, Ingrid, Au, Ping Yee Billie, Di Gregorio, Eleonora, Fabbiani, Alessandra, Croci, Susanna, Mencarelli, Maria Antonietta, Bruno, Lucia P, Renieri, Alessandra, Veltra, Danai, Sofocleous, Christalena, Faivre, Laurence, Mazel, Benoit, Safraou, Hana, Denommé-Pichon, Anne-Sophie, van Slegtenhorst, Marjon A, Giesbertz, Noor, van Jaarsveld, Richard H, Childers, Anna, Rogers, R Curtis, Novelli, Antonio, De Rubeis, Silvia, Buxbaum, Joseph D, Scherer, Stephen W, Ferrero, Giovanni Battista, Wirth, Brunhilde, Brusco, Alfredo
Published in Brain (London, England : 1878) (13.02.2023)
Published in Brain (London, England : 1878) (13.02.2023)
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New insights into the clinical and molecular spectrum of the novel CYFIP2-related neurodevelopmental disorder and impairment of the WRC-mediated actin dynamics
Begemann, Anaïs, Sticht, Heinrich, Begtrup, Amber, Vitobello, Antonio, Faivre, Laurence, Banka, Siddharth, Alhaddad, Bader, Asadollahi, Reza, Becker, Jessica, Bierhals, Tatjana, Brown, Kathleen E, Bruel, Ange-Line, Brunet, Theresa, Carneiro, Maryline, Cremer, Kirsten, Day, Robert, Denommé-Pichon, Anne-Sophie, Dyment, Dave A, Engels, Hartmut, Fisher, Rachel, Goh, Elaine S, Hajianpour, M J, Haertel, Lucia Ribeiro Machado, Hauer, Nadine, Hempel, Maja, Herget, Theresia, Johannsen, Jessika, Kraus, Cornelia, Le Guyader, Gwenaël, Lesca, Gaetan, Mau-Them, Frédéric Tran, McDermott, John Henry, McWalter, Kirsty, Meyer, Pierre, Õunap, Katrin, Popp, Bernt, Reimand, Tiia, Riedhammer, Korbinian M, Russo, Martina, Sadleir, Lynette G, Saenz, Margarita, Schiff, Manuel, Schuler, Elisabeth, Syrbe, Steffen, Van der Ven, Amelie Theresa, Verloes, Alain, Willems, Marjolaine, Zweier, Christiane, Steindl, Katharina, Zweier, Markus, Rauch, Anita
Published in Genetics in medicine (01.03.2021)
Published in Genetics in medicine (01.03.2021)
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Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene
Malbos, Marlène, Wakeling, Emma, Gautier, Thierry, Boespflug-Tanguy, Odile, Busby, Louise, Taylor-Miller, Tashunka, Dudoignon, Benjamin, Bokov, Plamen, Govin, Jérôme, Grisval, Margot, Rega, Adélaïde, Mourot De Rougemont, Marie-Gabrielle, Aubriot-Lorton, Marie-Hélène, Darmency, Véronique, Bensignor, Candace, Houzel, Anne, Huet, Frédéric, Denommé-Pichon, Anne-Sophie, Delanne, Julian, Tran Mau-Them, Frédéric, Bruel, Ange-Line, Safraou, Hana, Nambot, Sophie, Garde, Aurore, Philippe, Christophe, Duffourd, Yannis, Vitobello, Antonio, Faivre, Laurence, Thauvin-Robinet, Christel
Published in Clinical genetics (01.05.2024)
Published in Clinical genetics (01.05.2024)
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Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly
Thomas, Quentin, Motta, Marialetizia, Gautier, Thierry, Zaki, Maha S., Ciolfi, Andrea, Paccaud, Julien, Girodon, François, Boespflug-Tanguy, Odile, Besnard, Thomas, Kerkhof, Jennifer, McConkey, Haley, Masson, Aymeric, Denommé-Pichon, Anne-Sophie, Cogné, Benjamin, Trochu, Eva, Vignard, Virginie, El It, Fatima, Rodan, Lance H., Alkhateeb, Mohammad Ayman, Jamra, Rami Abou, Duplomb, Laurence, Tisserant, Emilie, Duffourd, Yannis, Bruel, Ange-Line, Jackson, Adam, Banka, Siddharth, McEntagart, Meriel, Saggar, Anand, Gleeson, Joseph G., Sievert, David, Bae, Hyunwoo, Lee, Beom Hee, Kwon, Kisang, Seo, Go Hun, Lee, Hane, Saeed, Anjum, Anjum, Nadeem, Cheema, Huma, Alawbathani, Salem, Khan, Imran, Pinto-Basto, Jorge, Teoh, Joyce, Wong, Jasmine, Sahari, Umar Bin Mohamad, Houlden, Henry, Zhelcheska, Kristina, Pannetier, Melanie, Awad, Mona A., Lesieur-Sebellin, Marion, Barcia, Giulia, Amiel, Jeanne, Delanne, Julian, Philippe, Christophe, Faivre, Laurence, Odent, Sylvie, Bertoli-Avella, Aida, Thauvin, Christel, Sadikovic, Bekim, Reversade, Bruno, Maroofian, Reza, Govin, Jérôme, Tartaglia, Marco, Vitobello, Antonio
Published in American journal of human genetics (06.10.2022)
Published in American journal of human genetics (06.10.2022)
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Journal Article
The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant
Aerden, Mio, Denommé-Pichon, Anne-Sophie, Bonneau, Dominique, Bruel, Ange-Line, Delanne, Julian, Gérard, Bénédicte, Mazel, Benoît, Philippe, Christophe, Pinson, Lucile, Prouteau, Clément, Putoux, Audrey, Tran Mau-Them, Frédéric, Viora-Dupont, Éléonore, Vitobello, Antonio, Ziegler, Alban, Piton, Amélie, Isidor, Bertrand, Francannet, Christine, Maillard, Pierre-Yves, Julia, Sophie, Philippe, Anais, Schaefer, Elise, Koene, Saskia, Ruivenkamp, Claudia, Hoffer, Mariette, Legius, Eric, Theunis, Miel, Keren, Boris, Buratti, Julien, Charles, Perrine, Courtin, Thomas, Misra-Isrie, Mala, van Haelst, Mieke, Waisfisz, Quinten, Wieczorek, Dagmar, Schmetz, Ariane, Herget, Theresia, Kortüm, Fanny, Lisfeld, Jasmin, Debray, François-Guillaume, Bramswig, Nuria C, Atallah, Isis, Fodstad, Heidi, Jouret, Guillaume, Almoguera, Berta, Tahsin-Swafiri, Saoud, Santos-Simarro, Fernando, Palomares-Bralo, Maria, López-González, Vanesa, Kibaek, Maria, Tørring, Pernille M, Renieri, Alessandra, Bruno, Lucia Pia, Õunap, Katrin, Wojcik, Monica, Hsieh, Tzung-Chien, Krawitz, Peter, Van Esch, Hilde
Published in European journal of human genetics : EJHG (01.04.2023)
Published in European journal of human genetics : EJHG (01.04.2023)
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
Szakszon, Katalin, Lourenco, Charles Marques, Callewaert, Bert Louis, Geneviève, David, Rouxel, Flavien, Morin, Denis, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Patterson, Wesley G, Louie, Raymond, Pinto E Vairo, Filippo, Klee, Eric, Kaiwar, Charu, Gavrilova, Ralitza H, Agre, Katherine E, Jacquemont, Sebastien, Khadijé, Jizi, Giltay, Jacques, van Gassen, Koen, Merő, Gabriella, Gerkes, Erica, Van Bon, Bregje W, Rinne, Tuula, Pfundt, Rolph, Brunner, Han G, Caluseriu, Oana, Grasshoff, Ute, Kehrer, Martin, Haack, Tobias B, Khelifa, Melik Malek, Bergmann, Anke Katharina, Cueto-González, Anna Maria, Martorell, Ariadna Campos, Ramachandrappa, Shwetha, Sawyer, Lindsey B, Fasel, Pascale, Braun, Dominique, Isis, Atallah, Superti-Furga, Andrea, McNiven, Vanda, Chitayat, David, Ahmed, Syed Anas, Brennenstuhl, Heiko, Schwaibolf, Eva Mc, Battisti, Gladys, Parmentier, Benoit, Stevens, Servi J C
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Primrose syndrome: a phenotypic comparison of patients with a ZBTB20 missense variant versus a 3q13.31 microdeletion including ZBTB20
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, Faivre, Laurence
Published in European journal of human genetics : EJHG (01.08.2020)
Published in European journal of human genetics : EJHG (01.08.2020)
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