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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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Journal Article
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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Journal Article
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, Sainte Agathe, Jean‐Madelaine, Keren, Boris, Faivre, Laurence
Published in American journal of medical genetics. Part A (01.01.2025)
Published in American journal of medical genetics. Part A (01.01.2025)
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Journal Article
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 (01.09.2024)
Published in Prenatal diagnosis (01.09.2024)
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Journal Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance
Cordovado, Amélie, Schaettin, Martina, Jeanne, Mederic, 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, Bakhtiari, Somayeh, Zollino, Marcella, Morleo, Manuela, Marangi, Giuseppe, Mei, Davide, Pisano, Tiziana, Guerrini, Renzo, Louie, Raymond, Childers, Anna, Everman, David B, Isidor, Bertrand, Audebert‐bellanger, Séverine, Odent, Sylvie, Bonneau, Dominique, Gilbert-Dussardier, Brigitte, Redon, Richard, Bézieau, Stéphane, Laumonnier, Frederic, Stoeckli, Esther, 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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Understanding the new BRD4‐related syndrome: Clinical and genomic delineation with an international cohort study
Jouret, Guillaume, Heide, Solveig, Sorlin, Arthur, Faivre, Laurence, Chantot‐Bastaraud, Sandra, Beneteau, Claire, Denis‐Musquer, Marie, Turnpenny, Peter D., Coutton, Charles, Vieville, Gaëlle, Thevenon, Julien, Larson, Austin, Petit, Florence, Boudry, Elise, Smol, Thomas, Delobel, Bruno, Duban‐Bedu, Bénédicte, Fallerini, Chiara, Mari, Francesca, Lo Rizzo, Caterina, Renieri, Alessandra, Caberg, Jean‐Hubert, Denommé‐Pichon, Anne‐Sophie, Tran Mau‐Them, Frédéric, Maystadt, Isabelle, Courtin, Thomas, Keren, Boris, Mouthon, Linda, Charles, Perrine, Cuinat, Silvestre, Isidor, Bertrand, Theis, Philippe, Müller, Christian, Kulisic, Marizela, Türkmen, Seval, Stieber, Daniel, Bourgeois, Dominique, Scalais, Emmanuel, Klink, Barbara
Published in Clinical genetics (01.08.2022)
Published in Clinical genetics (01.08.2022)
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Journal Article
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Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases
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, Thauvin‐Robinet, Christel
Published in Molecular genetics & genomic medicine (01.12.2021)
Published in Molecular genetics & genomic medicine (01.12.2021)
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Journal Article
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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Journal Article
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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Journal Article
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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Journal Article
Missense variants in DPYSL5 cause a neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities
Jeanne, Médéric, Demory, Hélène, Moutal, Aubin, Vuillaume, Marie-Laure, Blesson, Sophie, Thépault, Rose-Anne, Marouillat, Sylviane, Halewa, Judith, Maas, Saskia M., Motazacker, M. Mahdi, Mancini, Grazia M.S., van Slegtenhorst, Marjon A., Andreou, Avgi, Cox, Helene, Vogt, Julie, Laufman, Jason, Kostandyan, Natella, Babikyan, Davit, Hancarova, Miroslava, Bendova, Sarka, Sedlacek, Zdenek, Aldinger, Kimberly A., Sherr, Elliott H., Argilli, Emanuela, England, Eleina M., Audebert-Bellanger, Séverine, Bonneau, Dominique, Colin, Estelle, Denommé-Pichon, Anne-Sophie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Küry, Sébastien, Odent, Sylvie, Redon, Richard, Khanna, Rajesh, Dobyns, William B., Bézieau, Stéphane, Honnorat, Jérôme, Lohkamp, Bernhard, Toutain, Annick, Laumonnier, Frédéric
Published in American journal of human genetics (06.05.2021)
Published in American journal of human genetics (06.05.2021)
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Journal Article
Heterozygous Missense Variants in the ATPase Phospholipid Transporting 9A Gene, ATP9A , Alter Dendritic Spine Maturation and Cause Dominantly Inherited Nonsyndromic Intellectual Disability
Cordovado, Amélie, Hérenger, Yvan, Cormier, Coline, López-Martín, Estrella, Stamberger, Hannah, Faivre, Laurence, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Abdallah, Hamza Hadj, Barcia, Giulia, Courtin, Thomas, Martínez-Delgado, Beatriz, Bermejo-Sánchez, Eva, Barrero, María J., Gasser, Brooklynn, Bezieau, Stéphane, Küry, Sébastien, Weckhuysen, Sarah, Laumonnier, Frédéric, Toutain, Annick, Vuillaume, Marie-Laure
Published in Human mutation (01.01.2025)
Published in Human mutation (01.01.2025)
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Journal Article
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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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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Journal Article
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
Expansion of the neurodevelopmental phenotype of individuals with EEF1A2 variants and genotype-phenotype study
Paulet, Alix, Bennett-Ness, Cavan, Ageorges, Faustine, Trost, Detlef, Green, Andrew, Goudie, David, Jewell, Rosalyn, Kraatari-Tiri, Minna, PIARD, Juliette, Coubes, Christine, Lam, Wayne, Lynch, Sally Ann, Groeschel, Samuel, Ramond, Francis, Fluss, Joël, Fagerberg, Christina, Brasch Andersen, Charlotte, Varvagiannis, Konstantinos, Kleefstra, Tjitske, Gérard, Bénédicte, Fradin, Mélanie, Vitobello, Antonio, Tenconi, Romano, Denommé-Pichon, Anne-Sophie, Vincent-Devulder, Aline, Haack, Tobias, Marsh, Joseph A, Laulund, Lone Walentin, Grimmel, Mona, Riess, Angelika, de Boer, Elke, Padilla-Lopez, Sergio, Bakhtiari, Somayeh, Ostendorf, Adam, Zweier, Christiane, Smol, Thomas, Willems, Marjolaine, Faivre, Laurence, Scala, Marcello, Striano, Pasquale, Bagnasco, Irene, Koboldt, Daniel, Iascone, Maria, Suerink, Manon, Kruer, Michael C, Levy, Jonathan, Verloes, Alain, Abbott, Catherine M, Ruaud, Lyse
Published in European journal of human genetics : EJHG (01.09.2024)
Published in European journal of human genetics : EJHG (01.09.2024)
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Journal Article