6q16.3q23.3 duplication associated with Prader-Willi-like syndrome

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

Type I Interferonopathy due to a Homozygous Loss-of-Inhibitory Function Mutation in STAT2

por Zhu, Gaofeng, Badonyi, Mihaly, Franklin, Lina, Seabra, Luis, Rice, Gillian I., Anne-Boland-Auge, Deleuze, Jean-François, El-Chehadeh, Salima, Anheim, Mathieu, de Saint-Martin, Anne, Pellegrini, Sandra, Marsh, Joseph A., Crow, Yanick J., El-Daher, Marie-Therese
Publicado 2023

PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

por Low, Karen J, Ansari, Morad, Abou Jamra, Rami, Clarke, Angus, El Chehadeh, Salima, FitzPatrick, David R, Greenslade, Mark, Henderson, Alex, Hurst, Jane, Keller, Kory, Kuentz, Paul, Prescott, Trine, Roessler, Franziska, Selmer, Kaja K, Schneider, Michael C, Stewart, Fiona, Tatton-Brown, Katrina, Thevenon, Julien, Vigeland, Magnus D, Vogt, Julie, Willems, Marjolaine, Zonana, Jonathan, Study, D D D, Smithson, Sarah F
Publicado 2017

Infectious and Immunologic Phenotype of MECP2 Duplication Syndrome

por Bauer, Michael, Kölsch, Uwe, Krüger, Renate, Unterwalder, Nadine, Hameister, Karin, Kaiser, Fabian Marc, Vignoli, Aglaia, Rossi, Rainer, Botella, Maria Pilar, Budisteanu, Magdalena, Rosello, Monica, Orellana, Carmen, Tejada, Maria Isabel, Papuc, Sorina Mihaela, Patat, Oliver, Julia, Sophie, Touraine, Renaud, Gomes, Thusari, Wenner, Kirsten, Xu, Xiu, Afenjar, Alexandra, Toutain, Annick, Philip, Nicole, Jezela-Stanek, Aleksandra, Gortner, Ludwig, Martinez, Francisco, Echenne, Bernard, Wahn, Volker, Meisel, Christian, Wieczorek, Dagmar, El-Chehadeh, Salima, Van Esch, Hilde, von Bernuth, Horst
Publicado 2015

Molecular and clinical descriptions of patients with GABA(A) receptor gene variants ( GABRA1, GABRB2, GABRB3, GABRG2 ): A cohort study, review of literature, and genotype–phenotyp...

por Maillard, Pierre‐Yves, Baer, Sarah, Schaefer, Élise, Desnous, Béatrice, Villeneuve, Nathalie, Lépine, Anne, Fabre, Alexandre, Lacoste, Caroline, El Chehadeh, Salima, Piton, Amélie, Porter, Louise Frances, Perriard, Caroline, Wardé, Marie‐Thérèse Abi, Spitz, Marie‐Aude, Laugel, Vincent, Lesca, Gaëtan, Putoux, Audrey, Ville, Dorothée, Mignot, Cyril, Héron, Delphine, Nabbout, Rima, Barcia, Giulia, Rio, Marlène, Roubertie, Agathe, Meyer, Pierre, Paquis‐Flucklinger, Véronique, Patat, Olivier, Lefranc, Jérémie, Gerard, Marion, de Bellescize, Julietta, Villard, Laurent, De Saint Martin, Anne, Milh, Mathieu
Publicado 2022

Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders

por Colin, Estelle, Duffourd, Yannis, Chevarin, Martin, Tisserant, Emilie, Verdez, Simon, Paccaud, Julien, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Denommé-Pichon, Anne-Sophie, Thevenon, Julien, Safraou, Hana, Besnard, Thomas, Goldenberg, Alice, Cogné, Benjamin, Isidor, Bertrand, Delanne, Julian, Sorlin, Arthur, Moutton, Sébastien, Fradin, Mélanie, Dubourg, Christèle, Gorce, Magali, Bonneau, Dominique, El Chehadeh, Salima, Debray, François-Guillaume, Doco-Fenzy, Martine, Uguen, Kevin, Chatron, Nicolas, Aral, Bernard, Marle, Nathalie, Kuentz, Paul, Boland, Anne, Olaso, Robert, Deleuze, Jean-François, Sanlaville, Damien, Callier, Patrick, Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Vitobello, Antonio
Publicado 2023

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

por Calì, Elisa, Lin, Sheng-Jia, Rocca, Clarissa, Sahin, Yavuz, Al Shamsi, Aisha, El Chehadeh, Salima, Chaabouni, Myriam, Mankad, Kshitij, Galanaki, Evangelia, Efthymiou, Stephanie, Sudhakar, Sniya, Athanasiou-Fragkouli, Alkyoni, Çelik, Tamer, Narlı, Nejat, Bianca, Sebastiano, Murphy, David, De Carvalho Moreira, Francisco Martins, Andrea Accogli, Petree, Cassidy, Huang, Kevin, Monastiri, Kamel, Edizadeh, Masoud, Nardello, Rosaria, Ognibene, Marzia, De Marco, Patrizia, Ruggieri, Martino, Zara, Federico, Striano, Pasquale, Şahin, Yavuz, Al-Gazali, Lihadh, Abi Warde, Marie Therese, Gerard, Benedicte, Zifarelli, Giovanni, Beetz, Christian, Fortuna, Sara, Soler, Miguel, Valente, Enza Maria, Varshney, Gaurav, Maroofian, Reza, Salpietro, Vincenzo, Houlden, Henry
Publicado 2022

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

por Delanne, Julian, Bruel, Ange-Line, Huet, Frédéric, Moutton, Sébastien, Nambot, Sophie, Grisval, Margot, Houcinat, Nada, Kuentz, Paul, Sorlin, Arthur, Callier, Patrick, Jean-Marcais, Nolwenn, Mosca-Boidron, Anne-Laure, Mau-Them, Frédéric Tran, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Lehalle, Daphné, El Chehadeh, Salima, Francannet, Christine, Lebrun, Marine, Lambert, Laetitia, Jacquemont, Marie-Line, Gerard-Blanluet, Marion, Alessandri, Jean-Luc, Willems, Marjolaine, Thevenon, Julien, Chouchane, Mondher, Darmency, Véronique, Fatus-Fauconnier, Clémence, Gay, Sébastien, Bournez, Marie, Masurel, Alice, Leguy, Vanessa, Duffourd, Yannis, Philippe, Christophe, Feillet, François, Faivre, Laurence, Thauvin-Robinet, Christel
Publicado 2021

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice

por El Chehadeh, Salima, Han, Kyung Ah, Kim, Dongwook, Jang, Gyubin, Bakhtiari, Somayeh, Lim, Dongseok, Kim, Hee Young, Kim, Jinhu, Kim, Hyeonho, Wynn, Julia, Chung, Wendy K., Vitiello, Giuseppina, Cutcutache, Ioana, Page, Matthew, Gecz, Jozef, Harper, Kelly, Han, Ah-reum, Kim, Ho Min, Wessels, Marja, Bayat, Allan, Jaén, Alberto Fernández, Selicorni, Angelo, Maitz, Silvia, de Brouwer, Arjan P. M., Silfhout, Anneke Vulto-van, Armstrong, Martin, Symonds, Joseph, Küry, Sébastien, Isidor, Bertrand, Cogné, Benjamin, Nizon, Mathilde, Feger, Claire, Muller, Jean, Torti, Erin, Grange, Dorothy K., Willems, Marjolaine, Kruer, Michael C., Ko, Jaewon, Piton, Amélie, Um, Ji Won
Publicado 2022

Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing

por Redin, Claire, Gérard, Bénédicte, Lauer, Julia, Herenger, Yvan, Muller, Jean, Quartier, Angélique, Masurel-Paulet, Alice, Willems, Marjolaine, Lesca, Gaétan, El-Chehadeh, Salima, Le Gras, Stéphanie, Vicaire, Serge, Philipps, Muriel, Dumas, Michaël, Geoffroy, Véronique, Feger, Claire, Haumesser, Nicolas, Alembik, Yves, Barth, Magalie, Bonneau, Dominique, Colin, Estelle, Dollfus, Hélène, Doray, Bérénice, Delrue, Marie-Ange, Drouin-Garraud, Valérie, Flori, Elisabeth, Fradin, Mélanie, Francannet, Christine, Goldenberg, Alice, Lumbroso, Serge, Mathieu-Dramard, Michèle, Martin-Coignard, Dominique, Lacombe, Didier, Morin, Gilles, Polge, Anne, Sukno, Sylvie, Thauvin-Robinet, Christel, Thevenon, Julien, Doco-Fenzy, Martine, Genevieve, David, Sarda, Pierre, Edery, Patrick, Isidor, Bertrand, Jost, Bernard, Olivier-Faivre, Laurence, Mandel, Jean-Louis, Piton, Amélie
Publicado 2014

The different clinical facets of SYN1-related neurodevelopmental disorders

por Parenti, Ilaria, Leitão, Elsa, Kuechler, Alma, Villard, Laurent, Goizet, Cyril, Courdier, Cécile, Bayat, Allan, Rossi, Alessandra, Julia, Sophie, Bruel, Ange-Line, Tran Mau-Them, Frédéric, Nambot, Sophie, Lehalle, Daphné, Willems, Marjolaine, Lespinasse, James, Ghoumid, Jamal, Caumes, Roseline, Smol, Thomas, El Chehadeh, Salima, Schaefer, Elise, Abi-Warde, Marie-Thérèse, Keren, Boris, Afenjar, Alexandra, Tabet, Anne-Claude, Levy, Jonathan, Maruani, Anna, Aledo-Serrano, Ángel, Garming, Waltraud, Milleret-Pignot, Clara, Chassevent, Anna, Koopmans, Marije, Verbeek, Nienke E., Person, Richard, Belles, Rebecca, Bellus, Gary, Salbert, Bonnie A., Kaiser, Frank J., Mazzola, Laure, Convers, Philippe, Perrin, Laurine, Piton, Amélie, Wiegand, Gert, Accogli, Andrea, Brancati, Francesco, Benfenati, Fabio, Chatron, Nicolas, Lewis-Smith, David, Thomas, Rhys H., Zara, Federico, Striano, Pasquale, Lesca, Gaetan, Depienne, Christel
Publicado 2022

Clinical relevance of 8q23, 15q13 and 18q21 SNP genotyping to evaluate colorectal cancer risk

por Baert-Desurmont, Stéphanie, Charbonnier, Françoise, Houivet, Estelle, Ippolito, Lorena, Mauillon, Jacques, Bougeard, Marion, Abadie, Caroline, Malka, David, Duffour, Jacqueline, Desseigne, Françoise, Colas, Chrystelle, Pujol, Pascal, Lejeune, Sophie, Dugast, Catherine, Buecher, Bruno, Faivre, Laurence, Leroux, Dominique, Gesta, Paul, Coupier, Isabelle, Guimbaud, Rosine, Berthet, Pascaline, Manouvrier, Sylvie, Cauchin, Estelle, Prieur, Fabienne, Laurent-Puig, Pierre, Lebrun, Marine, Jonveaux, Philippe, Chiesa, Jean, Caron, Olivier, Morin-Meschin, Marie-Emmanuelle, Polycarpe-Osaer, Florence, Giraud, Sophie, Zaanan, Aziz, Bonnet, Delphine, Mansuy, Ludovic, Bonadona, Valérie, El Chehadeh, Salima, Duhoux, François, Gauthier-Villars, Marion, Saurin, Jean-Christophe, Collonge-Rame, Marie- Agnès, Brugières, Laurence, Wang, Qing, Bressac-de Paillerets, Brigitte, Rey, Jean-Marc, Toulas, Christine, Buisine, Marie-Pierre, Bronner, Myriam, Sokolowska, Joanna, Hardouin, Agnès, Cailleux, Anne-Françoise, Sebaoui, Hakim, Blot, Julien, Tinat, Julie, Benichou, Jacques, Frebourg, Thierry
Publicado 2016

Functional and clinical studies reveal pathophysiological complexity of CLCN4-related neurodevelopmental condition

por Palmer, Elizabeth E., Pusch, Michael, Picollo, Alessandra, Forwood, Caitlin, Nguyen, Matthew H., Suckow, Vanessa, Gibbons, Jessica, Hoff, Alva, Sigfrid, Lisa, Megarbane, Andre, Nizon, Mathilde, Cogné, Benjamin, Beneteau, Claire, Alkuraya, Fowzan S., Chedrawi, Aziza, Hashem, Mais O., Stamberger, Hannah, Weckhuysen, Sarah, Vanlander, Arnaud, Ceulemans, Berten, Rajagopalan, Sulekha, Nunn, Kenneth, Arpin, Stéphanie, Raynaud, Martine, Motter, Constance S., Ward-Melver, Catherine, Janssens, Katrien, Meuwissen, Marije, Beysen, Diane, Dikow, Nicola, Grimmel, Mona, Haack, Tobias B., Clement, Emma, McTague, Amy, Hunt, David, Townshend, Sharron, Ward, Michelle, Richards, Linda J., Simons, Cas, Costain, Gregory, Dupuis, Lucie, Mendoza-Londono, Roberto, Dudding-Byth, Tracy, Boyle, Jackie, Saunders, Carol, Fleming, Emily, El Chehadeh, Salima, Spitz, Marie-Aude, Piton, Amelie, Gerard, Bénédicte, Abi Warde, Marie-Thérèse, Rea, Gillian, McKenna, Caoimhe, Douzgou, Sofia, Banka, Siddharth, Akman, Cigdem, Bain, Jennifer M., Sands, Tristan T., Wilson, Golder N., Silvertooth, Erin J., Miller, Lauren, Lederer, Damien, Sachdev, Rani, Macintosh, Rebecca, Monestier, Olivier, Karadurmus, Deniz, Collins, Felicity, Carter, Melissa, Rohena, Luis, Willemsen, Marjolein H., Ockeloen, Charlotte W., Pfundt, Rolph, Kroft, Sanne D., Field, Michael, Laranjeira, Francisco E. R., Fortuna, Ana M., Soares, Ana R., Michaud, Vincent, Naudion, Sophie, Golla, Sailaja, Weaver, David D., Bird, Lynne M., Friedman, Jennifer, Clowes, Virginia, Joss, Shelagh, Pölsler, Laura, Campeau, Philippe M., Blazo, Maria, Bijlsma, Emilia K., Rosenfeld, Jill A., Beetz, Christian, Powis, Zöe, McWalter, Kirsty, Brandt, Tracy, Torti, Erin, Mathot, Mikaël, Mohammad, Shekeeb S., Armstrong, Ruth, Kalscheuer, Vera M.
Publicado 2022