NR2F1 regulates regional progenitor dynamics in the mouse neocortex and cortical gyrification in BBSOAS patients von Bertacchi, Michele, Romano, Anna Lisa, Loubat, Agnès, Tran Mau‐Them, Frederic, Willems, Marjolaine, Faivre, Laurence, Khau van Kien, Philippe, Perrin, Laurence, Devillard, Françoise, Sorlin, Arthur, Kuentz, Paul, Philippe, Christophe, Garde, Aurore, Neri, Francesco, Di Giaimo, Rossella, Oliviero, Salvatore, Cappello, Silvia, D'Incerti, Ludovico, Frassoni, Carolina, Studer, Michèle

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Skraban‐Deardorff syndrome: Six new cases of WDR26‐related disease and expansion of the clinical phenotype von Cospain, Auriane, Schaefer, Elise, Faoucher, Marie, Dubourg, Christèle, Carré, Wilfrid, Bizaoui, Varoona, Assoumani, Jessica, Van Maldergem, Lionel, Piton, Amélie, Gérard, Bénédicte, Tran Mau‐Them, Frédéric, Bruel, Ange‐Line, Faivre, Laurence, Demurger, Florence, Pasquier, Laurent, Odent, Sylvie, Fradin, Mélanie, Lavillaureix, Alinoë

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SCYL2‐related autosomal recessive neurodevelopmental disorders: Arthrogryposis multiplex congenita‐4 and beyond? von Malbos, Marlène, Vera, Gabriella, Sheth, Harsh, Schnur, Rhonda E., Juven, Aurélien, Brehin, Anne‐Claire, Sheth, Jayesh, Gandhi, Ajit, Shapiro, Faye L., Bruel, Ange‐Line, Marguet, Florent, Begtrup, Amber, Monaghan, Kristin G., Safraou, Hana, Brasseur‐Daudruy, Marie, Mau‐Them, Frédéric Tran, Duffourd, Yannis, Faivre, Laurence, Thauvin‐Robinet, Christel, Benke, Paul J., Philippe, Christophe

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A bi‐allelic loss‐of‐function SARS1 variant in children with neurodevelopmental delay, deafness, cardiomyopathy, and decompensation during fever von Ravel, Jean‐Marie, Dreumont, Natacha, Mosca, Pauline, Smith, Desiree E. C., Mendes, Marisa I., Wiedemann, Arnaud, Coelho, David, Schmitt, Emmanuelle, Rivière, Jean‐Baptiste, Tran Mau‐Them, Frédéric, Thevenon, Julien, Kuentz, Paul, Polivka, Marc, Fuchs, Sabine A., Kok, Gautam, Thauvin‐Robinet, Christel, Guéant, Jean‐Louis, Salomons, Gajja S., Faivre, Laurence, Feillet, François

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Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group von Lemattre, Camille, Imbert-Bouteille, Marion, Gatinois, Vincent, Benit, Paule, Sanchez, Elodie, Guignard, Thomas, Tran Mau-Them, Frédéric, Haquet, Emmanuelle, Rivier, François, Carme, Emilie, Roubertie, Agathe, Boland, Anne, Lechner, Doris, Meyer, Vincent, Thevenon, Julien, Duffourd, Yannis, Rivière, Jean-Baptiste, Deleuze, Jean-François, Wells, Constance, Molinari, Florence, Rustin, Pierre, Blanchet, Patricia, Geneviève, David

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Hearing impairment as an early sign of alpha‐mannosidosis in children with a mild phenotype: Report of seven new cases von Lehalle, Daphné, Colombo, Roberto, O'Grady, Michael, Héron, Bénédicte, Houcinat, Nada, Kuentz, Paul, Moutton, Sebastien, Sorlin, Arthur, Thevenon, Julien, Delanne, Julian, Gay, Sebastien, Racine, Caroline, Garde, Aurore, Tran Mau‐Them, Frédéric, Philippe, Christophe, Vitobello, Antonio, Nambot, Sophie, Huet, Frédéric, Duffourd, Yannis, Feillet, François, Thauvin‐Robinet, Christel, Marlin, Sandrine, Faivre, Laurence

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Phenotypic characterization of seven individuals with Marbach–Schaaf neurodevelopmental syndrome von 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.

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A novel homozygous KCNQ3 loss‐of‐function variant causes non‐syndromic intellectual disability and neonatal‐onset pharmacodependent epilepsy von Lauritano, Anna, Moutton, Sebastien, Longobardi, Elena, Tran Mau‐Them, Frédéric, Laudati, Giusy, Nappi, Piera, Soldovieri, Maria Virginia, Ambrosino, Paolo, Cataldi, Mauro, Jouan, Thibaud, Lehalle, Daphné, Maurey, Hélène, Philippe, Christophe, Miceli, Francesco, Vitobello, Antonio, Taglialatela, Maurizio

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Clinical whole-exome sequencing for the diagnosis of rare disorders with congenital anomalies and/or intellectual disability: substantial interest of prospective annual reanalysis von Nambot, Sophie, Thevenon, Julien, Kuentz, Paul, Duffourd, Yannis, Tisserant, Emilie, Bruel, Ange-Line, Mosca-Boidron, Anne-Laure, Masurel-Paulet, Alice, Lehalle, Daphné, Jean-Marçais, Nolwenn, Lefebvre, Mathilde, Vabres, Pierre, El Chehadeh-Djebbar, Salima, Philippe, Christophe, Tran Mau-Them, Frederic, St-Onge, Judith, Jouan, Thibaud, Chevarin, Martin, Poé, Charlotte, Carmignac, Virginie, Vitobello, Antonio, Callier, Patrick, Rivière, Jean-Baptiste, Faivre, Laurence, Thauvin-Robinet, Christel

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Gain-of-function MYCN causes a megalencephaly-polydactyly syndrome manifesting mirror phenotypes of Feingold syndrome von Nishio, Yosuke, Kato, Kohji, Tran Mau-Them, Frederic, Futagawa, Hiroshi, Quélin, Chloé, Masuda, Saori, Vitobello, Antonio, Otsuji, Shiomi, Shawki, Hossam H., Oishi, Hisashi, Thauvin-Robinet, Christel, Takenouchi, Toshiki, Kosaki, Kenjiro, Takahashi, Yoshiyuki, Saitoh, Shinji

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Interest of exome sequencing trio‐like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases von 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

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Atypical phenotype of a patient with Bardet–Biedl syndrome type 4 von Sloboda, Natacha, Lambert, Laetitia, Ciorna, Viorica, Bruel, Ange‐Line, Tran Mau‐Them, Frédéric, Gomola, Vladimir, Lemelle, Jean‐Louis, Klein, Olivier, Camoin‐Schweitzer, Marie‐Christine, Magnavacca, Marie, Legagneur, Carole, Ezsto, Marie‐Laure, Bonnet, Céline, Philippe, Christophe, Leheup, Bruno

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The molecular and phenotypic spectrum of IQSEC2‐related epilepsy von Zerem, Ayelet, Haginoya, Kazuhiro, Lev, Dorit, Blumkin, Lubov, Kivity, Sara, Linder, Ilan, Shoubridge, Cheryl, Palmer, Elizabeth Emma, Field, Michael, Boyle, Jackie, Chitayat, David, Gaillard, William D., Kossoff, Eric H., Willems, Marjolaine, Geneviève, David, Tran‐Mau‐Them, Frederic, Epstein, Orna, Heyman, Eli, Dugan, Sarah, Masurel‐Paulet, Alice, Piton, Ame'lie, Kleefstra, Tjitske, Pfundt, Rolph, Sato, Ryo, Tzschach, Andreas, Matsumoto, Naomichi, Saitsu, Hirotomo, Leshinsky‐Silver, Esther, Lerman‐Sagie, Tally

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Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia von Lines, Matthew A., Goldenberg, Paula, Wong, Ashley, Srivastava, Siddharth, Bayat, Allan, Hove, Hanne, Karstensen, Helena Gásdal, Anyane‐Yeboa, Kwame, Liao, Jun, Jiang, Nan, May, Alison, Guzman, Edwin, Morleo, Manuela, D'Arrigo, Stefano, Ciaccio, Claudia, Pantaleoni, Chiara, Castello, Raffaele, McKee, Shane, Ong, Jinfon, Zibdeh‐Lough, Hana, Tran‐Mau‐Them, Frederic, Gerasimenko, Anna, Heron, Delphine, Keren, Boris, Margot, Henri, Sainte Agathe, Jean‐Madeleine, Burglen, Lydie, Voets, Thomas, Vriens, Joris, Innes, A. Micheil, Dyment, David A.

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Discovery of pathogenic variants in EFEMP2 and RAG1 and undetectable fetal phenotype: A challenge of prenatal exome sequencing von Favier, Maud, Dard, Rodolph, Gorincour, Guillaume, Tessier, Aude, Motte-Signoret, Emmanuelle, Duvillier, Clemence, Racine, Caroline, Faivre, Laurence, Thauvin-Robinet, Christel, Mau-Them, Frédéric Tran

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Early prenatal diagnosis of causative homozygous variants in ASCC1 in a fetus with cystic hygroma and additional homozygous variants of unknown significance associated with a neuro... von Favier, Maud, Delanne, Julian, Gorincour, Guillaume, Faivre, Laurence, Racine, Caroline, Philippe, Christophe, Duffourd, Yannis, Vitobello, Antonio, Rousseau, Thierry, Martz, Olivia, Tarris, Georges, Oualiken, Camélia, Thauvin‐Robinet, Christel, Mau‐Them, Frédéric Tran

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Next‐generation sequencing approaches and challenges in the diagnosis of developmental anomalies and intellectual disability von 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

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Further delineation of the female phenotype with KDM5C disease causing variants: 19 new individuals and review of the literature von Carmignac, Virginie, Nambot, Sophie, Lehalle, Daphné, Callier, Patrick, Moortgat, Stephanie, Benoit, Valérie, Ghoumid, Jamal, Delobel, Bruno, Smol, Thomas, Thuillier, Caroline, Zordan, Cécile, Naudion, Sophie, Bienvenu, Thierry, Touraine, Renaud, Ramond, Francis, Zweier, Christiane, Reis, André, Kraus, Cornelia, Nizon, Mathilde, Cogné, Benjamin, Verloes, Alain, Tran Mau‐Them, Frédéric, Sorlin, Arthur, Jouan, Thibaud, Duffourd, Yannis, Tisserant, Emilie, Philippe, Christophe, Vitobello, Antonio, Thevenon, Julien, Faivre, Laurence, Thauvin‐Robinet, Christel

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Heterozygous HMGB1 loss‐of‐function variants are associated with developmental delay and microcephaly von Uguen, Kévin, Krysiak, Kilannin, Audebert‐Bellanger, Séverine, Redon, Sylvia, Benech, Caroline, Viora‐Dupont, Eléonore, Tran Mau‐Them, Frederic, Rondeau, Sophie, Elsharkawi, Ibrahim, Granadillo, Jorge L., Neidich, Julie, Soares, Celia Azevedo, Tkachenko, Natáliya, M. Amudhavalli, Shivarajan, Engleman, Kendra, Boland, Anne, Deleuze, Jean‐François, Bezieau, Stéphane, Odent, Sylvie, Toutain, Annick, Bonneau, Dominique, Gilbert‐Dussardier, Brigitte, Faivre, Laurence, Rio, Marlène, Le Marechal, Cedric, Ferec, Claude, Repnikova, Elena, Cao, Yang

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Second-tier trio exome sequencing after negative solo clinical exome sequencing: an efficient strategy to increase diagnostic yield and decipher molecular bases in undiagnosed deve... von Tran Mau-Them, Frederic, Moutton, Sebastien, Racine, Caroline, Vitobello, Antonio, Bruel, Ange-Line, Nambot, Sophie, Kushner, Steven A., de Vrij, Femke M. S., Lehalle, Daphné, Jean-Marçais, Nolwenn, Lecoquierre, François, Delanne, Julian, Thevenon, Julien, Poe, Charlotte, Jouan, Thibaut, Chevarin, Martin, Geneviève, David, Willems, Marjolaine, Coubes, Christine, Houcinat, Nada, Masurel-Paulet, Alice, Mosca-Boidron, Anne-Laure, Tisserant, Emilie, Callier, Patrick, Sorlin, Arthur, Duffourd, Yannis, Faivre, Laurence, Philippe, Christophe, Thauvin-Robinet, Christel

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