Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants

por Marguet, Florent, Vezain, Myriam, Marcorelles, Pascale, Audebert-Bellanger, Séverine, Cassinari, Kévin, Drouot, Nathalie, Chambon, Pascal, Gonzalez, Bruno J., Horowitz, Arie, Laquerriere, Annie, Saugier-Veber, Pascale
Publicado 2021

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

por Khatri, Deepak, Putoux, Audrey, Cologne, Audric, Kaltenbach, Sophie, Besson, Alicia, Bertiaux, Eloïse, Guguin, Justine, Fendler, Adèle, Dupont, Marie A., Benoit-Pilven, Clara, Qebibo, Leila, Ahmed-Elie, Samira, Audebert-Bellanger, Séverine, Blanc, Pierre, Rambaud, Thomas, Castelle, Martin, Cornen, Gaëlle, Grotto, Sarah, Guët, Agnès, Guibaud, Laurent, Michot, Caroline, Odent, Sylvie, Ruaud, Lyse, Sacaze, Elise, Hamel, Virginie, Bordonné, Rémy, Leutenegger, Anne-Louise, Edery, Patrick, Burglen, Lydie, Attié-Bitach, Tania, Mazoyer, Sylvie, Delous, Marion
Publicado 2023

Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism

por Padhi, Evin M., Hayeck, Tristan J., Cheng, Zhang, Chatterjee, Sumantra, Mannion, Brandon J., Byrska-Bishop, Marta, Willems, Marjolaine, Pinson, Lucile, Redon, Sylvia, Benech, Caroline, Uguen, Kevin, Audebert-Bellanger, Séverine, Le Marechal, Cédric, Férec, Claude, Efthymiou, Stephanie, Rahman, Fatima, Maqbool, Shazia, Maroofian, Reza, Houlden, Henry, Musunuri, Rajeeva, Narzisi, Giuseppe, Abhyankar, Avinash, Hunter, Riana D., Akiyama, Jennifer, Fries, Lauren E., Ng, Jeffrey K., Mehinovic, Elvisa, Stong, Nick, Allen, Andrew S., Dickel, Diane E., Bernier, Raphael A., Gorkin, David U., Pennacchio, Len A., Zody, Michael C., Turner, Tychele N.
Publicado 2021

Severe Phenotype in Patients with Large Deletions of NF1

por Pacot, Laurence, Vidaud, Dominique, Sabbagh, Audrey, Laurendeau, Ingrid, Briand-Suleau, Audrey, Coustier, Audrey, Maillard, Théodora, Barbance, Cécile, Morice-Picard, Fanny, Sigaudy, Sabine, Glazunova, Olga O., Damaj, Lena, Layet, Valérie, Quelin, Chloé, Gilbert-Dussardier, Brigitte, Audic, Frédérique, Dollfus, Hélène, Guerrot, Anne-Marie, Lespinasse, James, Julia, Sophie, Vantyghem, Marie-Christine, Drouard, Magali, Lackmy, Marilyn, Leheup, Bruno, Alembik, Yves, Lemaire, Alexia, Nitschké, Patrick, Petit, Florence, Dieux Coeslier, Anne, Mutez, Eugénie, Taieb, Alain, Fradin, Mélanie, Capri, Yline, Nasser, Hala, Ruaud, Lyse, Dauriat, Benjamin, Bourthoumieu, Sylvie, Geneviève, David, Audebert-Bellanger, Séverine, Nizon, Mathilde, Stoeva, Radka, Hickman, Geoffroy, Nicolas, Gaël, Mazereeuw-Hautier, Juliette, Jannic, Arnaud, Ferkal, Salah, Parfait, Béatrice, Vidaud, Michel, Wolkenstein, Pierre, Pasmant, Eric
Publicado 2021

Gene‐ and pathway‐level analyses of iCOGS variants highlight novel signaling pathways underlying familial breast cancer susceptibility

por Lonjou, Christine, Eon‐Marchais, Séverine, Truong, Thérèse, Dondon, Marie‐Gabrielle, Karimi, Mojgan, Jiao, Yue, Damiola, Francesca, Barjhoux, Laure, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Cavaciuti, Eve, Chiesa, Jean, Floquet, Anne, Audebert‐Bellanger, Séverine, Giraud, Sophie, Frebourg, Thierry, Limacher, Jean‐Marc, Gladieff, Laurence, Mortemousque, Isabelle, Dreyfus, Hélène, Lejeune‐Dumoulin, Sophie, Lasset, Christine, Venat‐Bouvet, Laurence, Bignon, Yves‐Jean, Pujol, Pascal, Maugard, Christine M., Luporsi, Elisabeth, Bonadona, Valérie, Noguès, Catherine, Berthet, Pascaline, Delnatte, Capucine, Gesta, Paul, Lortholary, Alain, Faivre, Laurence, Buecher, Bruno, Caron, Olivier, Gauthier‐Villars, Marion, Coupier, Isabelle, Mazoyer, Sylvie, Monraz, Luis‐Cristobal, Kondratova, Maria, Kuperstein, Inna, Guénel, Pascal, Barillot, Emmanuel, Stoppa‐Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne
Publicado 2021

Diagnostic chest X-rays and breast cancer risk among women with a hereditary predisposition to breast cancer unexplained by a BRCA1 or BRCA2 mutation

por Ribeiro Guerra, Maximiliano, Coignard, Juliette, Eon-Marchais, Séverine, Dondon, Marie-Gabrielle, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Fricker, Jean-Pierre, Gesta, Paul, Noguès, Catherine, Faivre, Laurence, Berthet, Pascaline, Luporsi, Elisabeth, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis-Lavignasse, Claude, Venat-Bouvet, Laurence, Dreyfus, Hélène, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Fert-Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Damiola, Francesca, Barjhoux, Laure, Cavaciuti, Eve, Mazoyer, Sylvie, Tardivon, Anne, Lesueur, Fabienne, Stoppa-Lyonnet, Dominique, Andrieu, Nadine
Publicado 2021

Familial breast cancer and DNA repair genes: Insights into known and novel susceptibility genes from the GENESIS study, and implications for multigene panel testing

por Girard, Elodie, Eon‐Marchais, Séverine, Olaso, Robert, Renault, Anne‐Laure, Damiola, Francesca, Dondon, Marie‐Gabrielle, Barjhoux, Laure, Goidin, Didier, Meyer, Vincent, Le Gal, Dorothée, Beauvallet, Juana, Mebirouk, Noura, Lonjou, Christine, Coignard, Juliette, Marcou, Morgane, Cavaciuti, Eve, Baulard, Céline, Bihoreau, Marie‐Thérèse, Cohen‐Haguenauer, Odile, Leroux, Dominique, Penet, Clotilde, Fert‐Ferrer, Sandra, Colas, Chrystelle, Frebourg, Thierry, Eisinger, François, Adenis, Claude, Fajac, Anne, Gladieff, Laurence, Tinat, Julie, Floquet, Anne, Chiesa, Jean, Giraud, Sophie, Mortemousque, Isabelle, Soubrier, Florent, Audebert‐Bellanger, Séverine, Limacher, Jean‐Marc, Lasset, Christine, Lejeune‐Dumoulin, Sophie, Dreyfus, Hélène, Bignon, Yves‐Jean, Longy, Michel, Pujol, Pascal, Venat‐Bouvet, Laurence, Bonadona, Valérie, Berthet, Pascaline, Luporsi, Elisabeth, Maugard, Christine M., Noguès, Catherine, Delnatte, Capucine, Fricker, Jean‐Pierre, Gesta, Paul, Faivre, Laurence, Lortholary, Alain, Buecher, Bruno, Caron, Olivier, Gauthier‐Villars, Marion, Coupier, Isabelle, Servant, Nicolas, Boland, Anne, Mazoyer, Sylvie, Deleuze, Jean‐François, Stoppa‐Lyonnet, Dominique, Andrieu, Nadine, Lesueur, Fabienne
Publicado 2018

Delineation of a KDM2B-related neurodevelopmental disorder and its associated DNA methylation signature

por van Jaarsveld, Richard H., Reilly, Jack, Cornips, Marie-Claire, Hadders, Michael A., Agolini, Emanuele, Ahimaz, Priyanka, Anyane-Yeboa, Kwame, Audebert Bellanger, Severine, van Binsbergen, Ellen, van den Boogaard, Marie-Jose, Brischoux-Boucher, Elise, Caylor, Raymond C., Ciolfi, Andrea, van Essen, Ton A.J., Fontana, Paolo, Hopman, Saskia, Iascone, Maria, Javier, Margaret M., Kamsteeg, Erik-Jan, Kerkhof, Jennifer, Kido, Jun, Kim, Hyung-Goo, Kleefstra, Tjitske, Lonardo, Fortunato, Lai, Abbe, Lev, Dorit, Levy, Michael A., Lewis, M.E. Suzanne, Lichty, Angie, Mannens, Marcel M.A.M., Matsumoto, Naomichi, Maya, Idit, McConkey, Haley, Megarbane, Andre, Michaud, Vincent, Miele, Evelina, Niceta, Marcello, Novelli, Antonio, Onesimo, Roberta, Pfundt, Rolph, Popp, Bernt, Prijoles, Eloise, Relator, Raissa, Redon, Sylvia, Rots, Dmitrijs, Rouault, Karen, Saida, Ken, Schieving, Jolanda, Tartaglia, Marco, Tenconi, Romano, Uguen, Kevin, Verbeek, Nienke, Walsh, Christopher A., Yosovich, Keren, Yuskaitis, Christopher J., Zampino, Giuseppe, Sadikovic, Bekim, Alders, Mariëlle, Oegema, Renske
Publicado 2022

GENESIS: a French national resource to study the missing heritability of breast cancer

por Sinilnikova, Olga M., Dondon, Marie-Gabrielle, Eon-Marchais, Séverine, Damiola, Francesca, Barjhoux, Laure, Marcou, Morgane, Verny-Pierre, Carole, Sornin, Valérie, Toulemonde, Lucie, Beauvallet, Juana, Le Gal, Dorothée, Mebirouk, Noura, Belotti, Muriel, Caron, Olivier, Gauthier-Villars, Marion, Coupier, Isabelle, Buecher, Bruno, Lortholary, Alain, Dugast, Catherine, Gesta, Paul, Fricker, Jean-Pierre, Noguès, Catherine, Faivre, Laurence, Luporsi, Elisabeth, Berthet, Pascaline, Delnatte, Capucine, Bonadona, Valérie, Maugard, Christine M., Pujol, Pascal, Lasset, Christine, Longy, Michel, Bignon, Yves-Jean, Adenis, Claude, Venat-Bouvet, Laurence, Demange, Liliane, Dreyfus, Hélène, Frenay, Marc, Gladieff, Laurence, Mortemousque, Isabelle, Audebert-Bellanger, Séverine, Soubrier, Florent, Giraud, Sophie, Lejeune-Dumoulin, Sophie, Chevrier, Annie, Limacher, Jean-Marc, Chiesa, Jean, Fajac, Anne, Floquet, Anne, Eisinger, François, Tinat, Julie, Colas, Chrystelle, Fert-Ferrer, Sandra, Penet, Clotilde, Frebourg, Thierry, Collonge-Rame, Marie-Agnès, Barouk-Simonet, Emmanuelle, Layet, Valérie, Leroux, Dominique, Cohen-Haguenauer, Odile, Prieur, Fabienne, Mouret-Fourme, Emmanuelle, Cornélis, François, Jonveaux, Philippe, Bera, Odile, Cavaciuti, Eve, Tardivon, Anne, Lesueur, Fabienne, Mazoyer, Sylvie, Stoppa-Lyonnet, Dominique, Andrieu, Nadine
Publicado 2016