Menke-Hennekam syndrome; delineation of domain-specific subtypes with distinct clinical and DNA methylation profiles

Autor: Angius, Andrea, Baker, Janice A., Bedoukian, Emma, Bhambhani, Vikas, Bodamer, Olaf, O’Brien, Alan, Clayton-Smith, Jill, Crisponi, Laura, Cueto González, Anna María, the DDD study, Devriendt, Koenraad, Garrido, Elena Dominguez, Ehmke, Nadja, van Eerde, Albertien, van den Elzen, Annette P.M., Faivre, Laurence, Fisher, Laura, Flores-Daboub, Josue A., Foster, Alison, Friedman, Jennifer, Gabau, Elisabeth, Galazzi, Elena, García-Miñaúr, Sixto, Garavelli, Livia, Gardeitchik, Thatjana, Gerkes, Erica H., van Gils, Julien, Giltay, Jacques C., Garcia, Aixa Gonzalez, Heimdal, Ketil Riddervold, Horn, Denise, Houge, Gunnar, Hufnagel, Sophia B., Ilencikova, Denisa, Julia, Sophie, Kant, Sarina G., Kinning, Esther, Klee, Eric W., Kois, Chelsea, Kovačević, Maja, Lachmeijer, A.M.A. (Guus), Lanpher, Brendan, Lebrun, Marine, Leon, Eyby, Lichty, Angie Ward, Lin, Ruth, Llano-Rivas, Isabel, Lynch, Sally Ann, Maas, Saskia M., Maitz, Silvia B., McKee, Shane, Melis, Daniela, Merati, Elisabetta, Merla, Giuseppe, Newbury-Ecob, Ruth, Nizon, Mathilde, Park, Soo-Mi, Patterson, Jennifer, Petit, Florence, Peeters, Hilde, Persani, Luca, Persico, Ivana, Pes, Valentina, Pollazzon, Marzia, Potjer, Thomas, Potocki, Lorraine, Pottinger, Carrie, Prasad, Chitra, Prijoles, Eloise J., Ragge, Nicola K., Rake, Jan Peter, van Ravenswaaij-Arts, Conny M.A., Rea, Gillian, Ruivenkamp, Claudia, Rutz, Audrey, Saitta, Sulagna C., Russo, Rossana Sanchez, Santen, Gijs W.E., Schaefer, Elise, Shashi, Vandana, Schultz-Rogers, Laura, Sluga, Andrea, Sotgiu, Stefano, Steichen-Gersdorf, Elisabeth, Sullivan, Jennifer A., Sun, Yu, Suri, Mohnish, Tartaglia, Marco, Tedder, Matt, Terhal, Paulien, Tully, Ian, Verbeek, Nienke, Wenzel, Maren, White, Susan M., Xiao, Bing, Haghshenas, Sadegheh, Bout, Hidde J., Schijns, Josephine M., Levy, Michael A., Kerkhof, Jennifer, Bhai, Pratibha, McConkey, Haley, Jenkins, Zandra A., Williams, Ella M., Halliday, Benjamin J., Huisman, Sylvia A., Lauffer, Peter, de Waard, Vivian, Witteveen, Laura, Banka, Siddharth, Brady, Angela F., Hurst, Anna C.E., Kaiser, Frank J., Lacombe, Didier, Martinez-Monseny, Antonio F., Fergelot, Patricia, Monteiro, Fabíola P., Parenti, Ilaria, Santos-Simarro, Fernando, Simpson, Brittany N., Alders, Mariëlle, Robertson, Stephen P., Sadikovic, Bekim, Menke, Leonie A.

Publikováno v: In Human Genetics and Genomics Advances 18 July 2024 5(3)

Clinico-biological refinement of BCL11B-related disorder and identification of an episignature: A series of 20 unreported individuals

Autor: Sabbagh, Quentin, Haghshenas, Sadegheh, Piard, Juliette, Trouvé, Chloé, Amiel, Jeanne, Attié-Bitach, Tania, Balci, Tugce, Barat-Houari, Mouna, Belonis, Alyce, Boute, Odile, Brightman, Diana S., Bruel, Ange-Line, Caraffi, Stefano Giuseppe, Chatron, Nicolas, Collet, Corinne, Dufour, William, Edery, Patrick, Fong, Chin-To, Fusco, Carlo, Gatinois, Vincent, Gouy, Evan, Guerrot, Anne-Marie, Heide, Solveig, Joshi, Aakash, Karp, Natalya, Keren, Boris, Lesieur-Sebellin, Marion, Levy, Jonathan, Levy, Michael A., Lozano, Claire, Lyonnet, Stanislas, Margot, Henri, Marzin, Pauline, McConkey, Haley, Michaud, Vincent, Nicolas, Gaël, Nizard, Mevyn, Paulet, Alix, Peluso, Francesca, Pernin, Vincent, Perrin, Laurence, Philippe, Christophe, Prasad, Chitra, Prasad, Madhavi, Relator, Raissa, Rio, Marlène, Rondeau, Sophie, Ruault, Valentin, Ruiz-Pallares, Nathalie, Sanchez, Elodie, Shears, Debbie, Siu, Victoria Mok, Sorlin, Arthur, Tedder, Matthew, Tharreau, Mylène, Mau-Them, Frédéric Tran, van der Laan, Liselot, Van Gils, Julien, Verloes, Alain, Whalen, Sandra, Willems, Marjolaine, Yauy, Kévin, Zuntini, Roberta, Kerkhof, Jennifer, Sadikovic, Bekim, Geneviève, David

Publikováno v: In Genetics in Medicine January 2024 26(1)

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A comparative study of cognitive and socio-emotional development in children with Rubinstein-Taybi syndrome and children with Autism Spectrum Disorder associated with a severe intellectual disability, and in young typically developing children with matched developmental ages

Autor: Adrien, Jean-Louis ^*, Taupiac, Emmanuelle, Thiébaut, Eric, Paulais, Marie-Anna, Van-Gils, Julien, Kaye, Kelley, Blanc, Romuald, Gattegno, Maria Pilar, Contejean, Yves, Michel, Grégory, Dean, Annika, Barthélémy, Catherine, Lacombe, Didier

Publikováno v: In Research in Developmental Disabilities September 2021 116

Early-onset epileptic encephalopathy related to germline PIGA mutations: A series of 5 cases

Autor: Cabasson, Sébastien, Van-Gils, Julien, Villéga, Frédéric, Abi-Warde, Marie-Thérèse, Barcia, Giulia, Lazaro, Leila, Cancés, Claude, Chelly, Jamel, Karsenty, Caroline, Rivera, Serge, de Saint-Martin, Anne, Trimouille, Aurélien, Villard, Laurent, Pédespan, Jean-Michel

Publikováno v: In European Journal of Paediatric Neurology September 2020 28:214-220