A Novel Lamin A Mutant Responsible for Congenital Muscular Dystrophy Causes Distinct Abnormalities of the Cell Nucleus

por Barateau, Alice, Vadrot, Nathalie, Vicart, Patrick, Ferreiro, Ana, Mayer, Michèle, Héron, Delphine, Vigouroux, Corinne, Buendia, Brigitte
Publicado 2017

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy

por Biancalana, Valérie, Romero, Norma B., Thuestad, Inger Johanne, Ignatius, Jaakko, Kataja, Janne, Gardberg, Maria, Héron, Delphine, Malfatti, Edoardo, Oldfors, Anders, Laporte, Jocelyn
Publicado 2018

Characterization of two familial cases presenting with a syndromic specific learning disorder and carrying (17q;21q) unbalanced translocations

por Coton, Julie, Labalme, Audrey, Till, Marianne, Bussy, Gerald, Krifi Papoz, Sonia, Lesca, Gaetan, Heron, Delphine, Sanlaville, Damien, Edery, Patrick, des Portes, Vincent, Rossi, Massimiliano
Publicado 2018

Human Pluripotent Stem Cell-derived Cortical Neurons for High Throughput Medication Screening in Autism: A Proof of Concept Study in SHANK3 Haploinsufficiency Syndrome

por Darville, Hélène, Poulet, Aurélie, Rodet-Amsellem, Frédérique, Chatrousse, Laure, Pernelle, Julie, Boissart, Claire, Héron, Delphine, Nava, Caroline, Perrier, Anselme, Jarrige, Margot, Cogé, Francis, Millan, Mark J., Bourgeron, Thomas, Peschanski, Marc, Delorme, Richard, Benchoua, Alexandra
Publicado 2016

Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay

por Vermehren-Schmaedick, Anke, Huang, Jeffrey Y., Levinson, Madison, Pomaville, Matthew B., Reed, Sarah, Bellus, Gary A., Gilbert, Fred, Keren, Boris, Heron, Delphine, Haye, Damien, Janello, Christine, Makowski, Christine, Danhauser, Katharina, Fedorov, Lev M., Haack, Tobias B., Wright, Kevin M., Cohen, Michael S.
Publicado 2021

Congenital immobility and stiffness related to biallelic ATAD1 variants

por Bunod, Roxane, Doummar, Diane, Whalen, Sandra, Keren, Boris, Chantot-Bastaraud, Sandra, Maincent, Kim, Villy, Marie-Charlotte, Mayer, Michèle, Rodriguez, Diana, Burglen, Lydie, Léger, Pierre-Louis, Kieffer, François, Martin, Isabelle, Héron, Delphine, Buratti, Julien, Isapof, Arnaud, Afenjar, Alexandra, Billette de Villemeur, Thierry, Mignot, Cyril
Publicado 2020

Genome Sequencing for Genetics Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study

por Binquet, Christine, Lejeune, Catherine, Faivre, Laurence, Bouctot, Marion, Asensio, Marie-Laure, Simon, Alban, Deleuze, Jean-François, Boland, Anne, Guillemin, Francis, Seror, Valérie, Delmas, Christelle, Espérou, Hélène, Duffourd, Yannis, Lyonnet, Stanislas, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Gerard, Bénédicte, Dollfus, Hélène
Publicado 2022

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

por Tabet, Anne-Claude, Verloes, Alain, Pilorge, Marion, Delaby, Elsa, Delorme, Richard, Nygren, Gudrun, Devillard, Françoise, Gérard, Marion, Passemard, Sandrine, Héron, Delphine, Siffroi, Jean-Pierre, Jacquette, Aurelia, Delahaye, Andrée, Perrin, Laurence, Dupont, Céline, Aboura, Azzedine, Bitoun, Pierre, Coleman, Mary, Leboyer, Marion, Gillberg, Christopher, Benzacken, Brigitte, Betancur, Catalina
Publicado 2015

29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype

por Monin, Marie-Lorraine, Mignot, Cyril, De Lonlay, Pascale, Héron, Bénédicte, Masurel, Alice, Mathieu-Dramard, Michèle, Lenaerts, Catherine, Thauvin, Christel, Gérard, Marion, Roze, Emmanuel, Jacquette, Aurélia, Charles, Perrine, de Baracé, Claire, Drouin-Garraud, Valérie, Van Kien, Philippe Khau, Cormier-Daire, Valérie, Mayer, Michèle, Ogier, Hélène, Brice, Alexis, Seta, Nathalie, Héron, Delphine
Publicado 2014

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders

por Nava, Caroline, Rupp, Johanna, Boissel, Jean-Paul, Mignot, Cyril, Rastetter, Agnès, Amiet, Claire, Jacquette, Aurélia, Dupuits, Céline, Bouteiller, Delphine, Keren, Boris, Ruberg, Merle, Faudet, Anne, Doummar, Diane, Philippe, Anne, Périsse, Didier, Laurent, Claudine, Lebrun, Nicolas, Guillemot, Vincent, Chelly, Jamel, Cohen, David, Héron, Delphine, Brice, Alexis, Closs, Ellen I., Depienne, Christel
Publicado 2015

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1

por Castle, Alison M.R., Salian, Smrithi, Bassan, Haim, Sofrin-Drucker, Efrat, Cusmai, Raffaella, Herman, Kristin C., Heron, Delphine, Keren, Boris, Johnstone, Devon L., Mears, Wendy, Morlot, Susanne, Nguyen, Thi Tuyet Mai, Rock, Rachel, Stolerman, Elliot, Russo, Julia, Burns, William Boyce, Jones, Julie R., Serpieri, Valentina, Wallaschek, Hannah, Zanni, Ginevra, Dyment, David A., Campeau, Philippe M.
Publicado 2021

Similar early characteristics but variable neurological outcome of patients with a de novo mutation of KCNQ2

por Milh, Mathieu, Boutry-Kryza, Nadia, Sutera-Sardo, Julie, Mignot, Cyril, Auvin, Stéphane, Lacoste, Caroline, Villeneuve, Nathalie, Roubertie, Agathe, Heron, Bénédicte, Carneiro, Maryline, Kaminska, Anna, Altuzarra, Cécilia, Blanchard, Gaëlle, Ville, Dorothée, Barthez, Marie Anne, Heron, Delphine, Gras, Domitille, Afenjar, Alexandra, Dorison, Nathalie, Doummar, Dianne, Billette de Villemeur, Thierry, An, Isabelle, Jacquette, Aurélia, Charles, Perrine, Perrier, Julie, Isidor, Bertrand, Vercueil, Laurent, Chabrol, Brigitte, Badens, Catherine, Lesca, Gaétan, Villard, Laurent
Publicado 2013

Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity

por Asselin, Laure, Rivera Alvarez, José, Heide, Solveig, Bonnet, Camille S., Tilly, Peggy, Vitet, Hélène, Weber, Chantal, Bacino, Carlos A., Baranaño, Kristin, Chassevent, Anna, Dameron, Amy, Faivre, Laurence, Hanchard, Neil A., Mahida, Sonal, McWalter, Kirsty, Mignot, Cyril, Nava, Caroline, Rastetter, Agnès, Streff, Haley, Thauvin-Robinet, Christel, Weiss, Marjan M., Zapata, Gladys, Zwijnenburg, Petra J. G., Saudou, Frédéric, Depienne, Christel, Golzio, Christelle, Héron, Delphine, Godin, Juliette D.
Publicado 2020

Screening for primary creatine deficiencies in French patients with unexplained neurological symptoms

por Cheillan, David, Curt, Marie Joncquel-Chevalier, Briand, Gilbert, Salomons, Gajja S, Mention-Mulliez, Karine, Dobbelaere, Dries, Cuisset, Jean-Marie, Lion-François, Laurence, Portes, Vincent Des, Chabli, Allel, Valayannopoulos, Vassili, Benoist, Jean-François, Pinard, Jean-Marc, Simard, Gilles, Douay, Olivier, Deiva, Kumaran, Afenjar, Alexandra, Héron, Delphine, Rivier, François, Chabrol, Brigitte, Prieur, Fabienne, Cartault, François, Pitelet, Gaëlle, Goldenberg, Alice, Bekri, Soumeya, Gerard, Marion, Delorme, Richard, Tardieu, Marc, Porchet, Nicole, Vianey-Saban, Christine, Vamecq, Joseph
Publicado 2012

The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

por Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
Publicado 2018

Correction: The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature

por Piard, Juliette, Hawkes, Lara, Milh, Mathieu, Villard, Laurent, Borgatti, Renato, Romaniello, Romina, Fradin, Melanie, Capri, Yline, Héron, Delphine, Nougues, Marie-Christine, Nava, Caroline, Arsene, Oana Tarta, Shears, Debbie, Taylor, John, Pagnamenta, Alistair, Taylor, Jenny C, Sogawa, Yoshimi, Johnson, Diana, Firth, Helen, Vasudevan, Pradeep, Jones, Gabriela, Nguyen-Morel, Marie-Ange, Busa, Tiffany, Roubertie, Agathe, van den Born, Myrthe, Brischoux-Boucher, Elise, Koenig, Michel, Mignot, Cyril, Kini, Usha, Philippe, Christophe
Publicado 2019

The Economic, Medical and Psychosocial Consequences of Whole Genome Sequencing for the Genetic Diagnosis of Patients With Intellectual Disability: The DEFIDIAG Study Protocol

por Lejeune, Catherine, Robert-Viard, Charley, Meunier-Beillard, Nicolas, Borel, Myriam Alice, Gourvès, Léna, Staraci, Stéphanie, Soilly, Anne-Laure, Guillemin, Francis, Seror, Valerie, Achit, Hamza, Bouctot, Marion, Asensio, Marie-Laure, Briffaut, Anne-Sophie, Delmas, Christelle, Bruel, Ange-Line, Benoit, Alexia, Simon, Alban, Gerard, Bénédicte, Hadj Abdallah, Hamza, Lyonnet, Stanislas, Faivre, Laurence, Thauvin-Robinet, Christel, Odent, Sylvie, Heron, Delphine, Sanlaville, Damien, Frebourg, Thierry, Muller, Jean, Duffourd, Yannis, Boland, Anne, Deleuze, Jean-François, Espérou, Hélène, Binquet, Christine, Dollfus, Hélène
Publicado 2022

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

Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy

por Vegas, Nancy, Cavallin, Mara, Maillard, Camille, Boddaert, Nathalie, Toulouse, Joseph, Schaefer, Elise, Lerman-Sagie, Tally, Lev, Dorit, Magalie, Barth, Moutton, Sébastien, Haan, Eric, Isidor, Bertrand, Heron, Delphine, Milh, Mathieu, Rondeau, Stéphane, Michot, Caroline, Valence, Stephanie, Wagner, Sabrina, Hully, Marie, Mignot, Cyril, Masurel, Alice, Datta, Alexandre, Odent, Sylvie, Nizon, Mathilde, Lazaro, Leila, Vincent, Marie, Cogné, Benjamin, Guerrot, Anne Marie, Arpin, Stéphanie, Pedespan, Jean Michel, Caubel, Isabelle, Pontier, Benedicte, Troude, Baptiste, Rivier, Francois, Philippe, Christophe, Bienvenu, Thierry, Spitz, Marie-Aude, Bery, Amandine, Bahi-Buisson, Nadia
Publicado 2018

Neuropilin-1 cooperates with PD-1 in CD8(+) T cells predicting outcomes in melanoma patients treated with anti-PD1

por Rossignol, Julien, Belaid, Zakia, Fouquet, Guillemette, Guillem, Flavia, Rignault, Rachel, Milpied, Pierre, Renand, Amédée, Coman, Tereza, D’Aveni, Maud, Dussiot, Michael, Colin, Elia, Levy, Jonathan, Carvalho, Caroline, Goudin, Nicolas, Cagnard, Nicolas, Côté, Francine, Babdor, Joel, Bhukhai, Kanit, Polivka, Laura, Bigorgne, Amélie E., Halse, Héloise, Marabelle, Aurélien, Mouraud, Séverine, Lepelletier, Yves, Maciel, Thiago T., Rubio, Marie-Thérèse, Heron, Delphine, Robert, Caroline, Girault, Isabelle, Lebeherec, Doris, Scoazec, Jean-Yves, Moura, Ivan, Condon, Louise, Weimershaus, Mirjana, Pages, Franck, Davoust, Jean, Gross, David, Hermine, Olivier
Publicado 2022