TCF12 microdeletion in a 72‐year‐old woman with intellectual disability

por Piard, Juliette, Rozé, Virginie, Czorny, Alain, Lenoir, Marion, Valduga, Mylène, Fenwick, Aimée L., Wilkie, Andrew O. M., Maldergem, Lionel Van
Publicado 2015

Phenotypic Overlap of Roberts and Baller-Gerold Syndromes in Two Patients With Craniosynostosis, Limb Reductions, and ESCO2 Mutations

por Colombo, Elisa Adele, Mutlu-Albayrak, Hatice, Shafeghati, Yousef, Balasar, Mine, Piard, Juliette, Gentilini, Davide, Di Blasio, Anna Maria, Gervasini, Cristina, Van Maldergem, Lionel, Larizza, Lidia
Publicado 2019

Non‐Motor Symptoms and Quality of Life in Patients with PRRT2‐Related Paroxysmal Kinesigenic Dyskinesia

por Ekmen, Asya, Doulazmi, Mohamed, Méneret, Aurélie, Jegatheesan, Prasanthi, Hervé, Anais, Damier, Philippe, Gras, Domitille, Roubertie, Agathe, Piard, Juliette, Mutez, Eugenie, Tarrano, Clément, Welniarz, Quentin, Vidailhet, Marie, Worbe, Yulia, Gallea, Cécile, Roze, Emmanuel
Publicado 2023

Cutis laxa and excessive bone growth due to de novo mutations in PTDSS1

por Piard, Juliette, Lespinasse, James, Vlckova, Marketa, Mensah, Martin A., Iurian, Sorin, Simandlova, Martina, Malikova, Marcela, Bartsch, Oliver, Rossi, Massimiliano, Lenoir, Marion, Nugues, Frédérique, Mundlos, Stefan, Kornak, Uwe, Stanier, Philip, Sousa, Sérgio B., Van Maldergem, Lionel
Publicado 2018

Homozygous COQ7 mutation: a new cause of potentially treatable distal hereditary motor neuropathy

por Jacquier, Arnaud, Theuriet, Julian, Fontaine, Fanny, Mosbach, Valentine, Lacoste, Nicolas, Ribault, Shams, Risson, Valérie, Carras, Julien, Coudert, Laurent, Simonet, Thomas, Latour, Philippe, Stojkovic, Tanya, Piard, Juliette, Cosson, Anne, Lesca, Gaëtan, Bouhour, Françoise, Allouche, Stéphane, Puccio, Hélène, Pegat, Antoine, Schaeffer, Laurent
Publicado 2022

Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus

por Melo, Uirá Souto, Piard, Juliette, Fischer-Zirnsak, Björn, Klever, Marius-Konstantin, Schöpflin, Robert, Mensah, Martin Atta, Holtgrewe, Manuel, Arbez-Gindre, Francine, Martin, Alain, Guigue, Virginie, Gaillard, Dominique, Landais, Emilie, Roze, Virginie, Kremer, Valerie, Ramanah, Rajeev, Cabrol, Christelle, Harms, Frederike L., Kornak, Uwe, Spielmann, Malte, Mundlos, Stefan, Van Maldergem, Lionel
Publicado 2021

POLG2 deficiency causes adult‐onset syndromic sensory neuropathy, ataxia and parkinsonism

por Van Maldergem, Lionel, Besse, Arnaud, De Paepe, Boel, Blakely, Emma L., Appadurai, Vivek, Humble, Margaret M., Piard, Juliette, Craig, Kate, He, Langping, Hella, Pierre, Debray, François‐Guillaume, Martin, Jean‐Jacques, Gaussen, Marion, Laloux, Patrice, Stevanin, Giovanni, Van Coster, Rudy, Taylor, Robert W., Copeland, William C., Mormont, Eric, Bonnen, Penelope E.
Publicado 2016

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

De novo mutations of KIAA2022 in females cause intellectual disability and intractable epilepsy

por de Lange, Iris M, Helbig, Katherine L, Weckhuysen, Sarah, Møller, Rikke S, Velinov, Milen, Dolzhanskaya, Natalia, Marsh, Eric, Helbig, Ingo, Devinsky, Orrin, Tang, Sha, Mefford, Heather C, Myers, Candace T, van Paesschen, Wim, Striano, Pasquale, van Gassen, Koen, van Kempen, Marjan, de Kovel, Carolien G F, Piard, Juliette, Minassian, Berge A, Nezarati, Marjan M, Pessoa, André, Jacquette, Aurelia, Maher, Bridget, Balestrini, Simona, Sisodiya, Sanjay, Warde, Marie Therese Abi, De St Martin, Anne, Chelly, Jamel, van ‘t Slot, Ruben, Van Maldergem, Lionel, Brilstra, Eva H, Koeleman, Bobby P C
Publicado 2016

Systematic analysis and prediction of genes associated with monogenic disorders on human chromosome X

por Leitão, Elsa, Schröder, Christopher, Parenti, Ilaria, Dalle, Carine, Rastetter, Agnès, Kühnel, Theresa, Kuechler, Alma, Kaya, Sabine, Gérard, Bénédicte, Schaefer, Elise, Nava, Caroline, Drouot, Nathalie, Engel, Camille, Piard, Juliette, Duban-Bedu, Bénédicte, Villard, Laurent, Stegmann, Alexander P. A., Vanhoutte, Els K., Verdonschot, Job A. J., Kaiser, Frank J., Tran Mau-Them, Frédéric, Scala, Marcello, Striano, Pasquale, Frints, Suzanna G. M., Argilli, Emanuela, Sherr, Elliott H., Elder, Fikret, Buratti, Julien, Keren, Boris, Mignot, Cyril, Héron, Delphine, Mandel, Jean-Louis, Gecz, Jozef, Kalscheuer, Vera M., Horsthemke, Bernhard, Piton, Amélie, Depienne, Christel
Publicado 2022

Phenotypic expansion in DDX3X – a common cause of intellectual disability in females

por Wang, Xia, Posey, Jennifer E., Rosenfeld, Jill A., Bacino, Carlos A., Scaglia, Fernando, Immken, LaDonna, Harris, Jill M., Hickey, Scott E., Mosher, Theresa M., Slavotinek, Anne, Zhang, Jing, Beuten, Joke, Leduc, Magalie S., He, Weimin, Vetrini, Francesco, Walkiewicz, Magdalena A., Bi, Weimin, Xiao, Rui, Liu, Pengfei, Shao, Yunru, Gezdirici, Alper, Gulec, Elif Y., Jiang, Yunyun, Darilek, Sandra A., Hansen, Adam W., Khayat, Michael M., Pehlivan, Davut, Piard, Juliette, Muzny, Donna M., Hanchard, Neil, Belmont, John W., Van Maldergem, Lionel, Gibbs, Richard A., Eldomery, Mohammad K., Akdemir, Zeynep C., Adesina, Adekunle M., Chen, Shan, Lee, Yi‐Chien, Lee, Brendan, Lupski, James R., Eng, Christine M., Xia, Fan, Yang, Yaping, Graham, Brett H., Moretti, Paolo
Publicado 2018

Pathogenic variants in SMARCA1 cause an X-linked neurodevelopmental disorder modulated by NURF complex composition

por Picketts, David, Mirzaa, Ghayda, Yan, Keqin, Relator, Raissa, Timpano, Sara, Yalcin, Binnaz, Collins, Stephan, Ziegler, Alban, Pao, Emily, Oyama, Nora, Brischoux-Boucher, Elise, PIARD, Juliette, Monaghan, Kristin, Sacoto, Maria Guillen, Dobyns, William, Park, Kristen, Fernández-Mayoralas, Daniel, Fernández-Jaén, Alberto, Jayakar, Parul, Brusco, Alfredo, Antona, Vincenzo, Giorgio, Elisa, Kvarnung, Malin, Isidor, Bertrand, Conrad, Solène, Cogné, Benjamin, Deb, Wallid, Stuurman, K.E., Sterbova, Katalin, Smal, Noor, Weckhuysen, Sarah, Oegema, Renske, Innes, Micheil, Latsko, Maeson, Ben-Omran, Tawfeg, Yeh, Rebecca, Kruer, Michael, Bakhtiari, Somayeh, Papavasiliou, Antigone, Moutton, Sébastien, Nambot, Sophie, Chanprasert, Sirisak, Paolucci, Sarah, Miller, Kait, Burton, Barbara, Kim, Katherine, O’Heir, Emily, Bruwer, Zandre, Donald, Kirsten, Kleefstra, Tjitske, Goldstein, Amy, Angle, Brad, Bontempo, Kelly, Miny, Peter, Joset, Pascal, Demurger, Florence, Hobson, Emma, Pang, Lewis, Carpenter, Lori, Li, Dong, Bonneau, Dominique, Sadikovic, Bekim
Publicado 2023

Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations

por Mercier, Sandra, Küry, Sébastien, Salort-Campana, Emmanuelle, Magot, Armelle, Agbim, Uchenna, Besnard, Thomas, Bodak, Nathalie, Bou-Hanna, Chantal, Bréhéret, Flora, Brunelle, Perrine, Caillon, Florence, Chabrol, Brigitte, Cormier-Daire, Valérie, David, Albert, Eymard, Bruno, Faivre, Laurence, Figarella-Branger, Dominique, Fleurence, Emmanuelle, Ganapathi, Mythily, Gherardi, Romain, Goldenberg, Alice, Hamel, Antoine, Igual, Jeanine, Irvine, Alan D., Israël-Biet, Dominique, Kannengiesser, Caroline, Laboisse, Christian, Le Caignec, Cédric, Mahé, Jean-Yves, Mallet, Stéphanie, MacGowan, Stuart, McAleer, Maeve A., McLean, Irwin, Méni, Cécile, Munnich, Arnold, Mussini, Jean-Marie, Nagy, Peter L., Odel, Jeffrey, O’Regan, Grainne M., Péréon, Yann, Perrier, Julie, Piard, Juliette, Puzenat, Eve, Sampson, Jacinda B., Smith, Frances, Soufir, Nadem, Tanji, Kurenai, Thauvin, Christel, Ulane, Christina, Watson, Rosemarie M., Khumalo, Nonhlanhla P., Mayosi, Bongani M., Barbarot, Sébastien, Bézieau, Stéphane
Publicado 2015

Genetic landscape of a large cohort of Primary Ovarian Insufficiency: New genes and pathways and implications for personalized medicine

por Heddar, Abdelkader, Ogur, Cagri, Da Costa, Sabrina, Braham, Inès, Billaud-Rist, Line, Findlinki, Necati, Beneteau, Claire, Reynaud, Rachel, Mahmoud, Khaled, Legrand, Stéphanie, Marchand, Maud, Cedrin-Durnerin, Isabelle, Cantalloube, Adèle, Peigne, Maeliss, Bretault, Marion, Dagher-Hayeck, Benedicte, Perol, Sandrine, Droumaguet, Celine, Cavkaytar, Sabri, Nicolas-Bonne, Carole, Elloumi, Hanen, Khrouf, Mohamed, Rougier-LeMasle, Charlotte, Fradin, Melanie, Le Boette, Elsa, Luigi, Perrine, Guerrot, Anne-Marie, Ginglinger, Emmanuelle, Zampa, Amandine, Fauconnier, Anais, Auger, Nathalie, Paris, Françoise, Brischoux-Boucher, Elise, Cabrol, Christelle, Brun, Aurore, Guyon, Laura, Berard, Melanie, Riviere, Axelle, Gruchy, Nicolas, Odent, Sylvie, Gilbert-Dussardier, Brigitte, Isidor, Bertrand, Piard, Juliette, Lambert, Laetitia, Hamamah, Samir, Guedj, Anne Marie, Brac de la Perriere, Aude, Fernandez, Hervé, Raffin-Sanson, Marie-Laure, Polak, Michel, Letur, Hélène, Epelboin, Sylvie, Plu-Bureau, Genevieve, Wołczyński, Sławomir, Hieronimus, Sylvie, Aittomaki, Kristiina, Catteau-Jonard, Sophie, Misrahi, Micheline
Publicado 2022

An HNRNPK-specific DNA methylation signature makes sense of missense variants and expands the phenotypic spectrum of Au-Kline syndrome

por Choufani, Sanaa, McNiven, Vanda, Cytrynbaum, Cheryl, Jangjoo, Maryam, Adam, Margaret P., Bjornsson, Hans T., Harris, Jacqueline, Dyment, David A., Graham, Gail E., Nezarati, Marjan M., Aul, Ritu B., Castiglioni, Claudia, Breckpot, Jeroen, Devriendt, Koen, Stewart, Helen, Banos-Pinero, Benito, Mehta, Sarju, Sandford, Richard, Dunn, Carolyn, Mathevet, Remi, van Maldergem, Lionel, Piard, Juliette, Brischoux-Boucher, Elise, Vitobello, Antonio, Faivre, Laurence, Bournez, Marie, Tran-Mau, Frederic, Maystadt, Isabelle, Fernández-Jaén, Alberto, Alvarez, Sara, García-Prieto, Irene Díez, Alkuraya, Fowzan S., Alsaif, Hessa S., Rahbeeni, Zuhair, El-Akouri, Karen, Al-Mureikhi, Mariam, Spillmann, Rebecca C., Shashi, Vandana, Sanchez-Lara, Pedro A., Graham, John M., Roberts, Amy, Chorin, Odelia, Evrony, Gilad D., Kraatari-Tiri, Minna, Dudding-Byth, Tracy, Richardson, Anamaria, Hunt, David, Hamilton, Laura, Dyack, Sarah, Mendelsohn, Bryce A., Rodríguez, Nicolás, Sánchez-Martínez, Rosario, Tenorio-Castaño, Jair, Nevado, Julián, Lapunzina, Pablo, Tirado, Pilar, Carminho Amaro Rodrigues, Maria-Teresa, Quteineh, Lina, Innes, A. Micheil, Kline, Antonie D., Au, P.Y. Billie, Weksberg, Rosanna
Publicado 2022

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

por Laquerriere, Annie, Jaber, Dana, Abiusi, Emanuela, Maluenda, Jérome, Mejlachowicz, Dan, Vivanti, Alexandre, Dieterich, Klaus, Stoeva, Radka, Quevarec, Loic, Nolent, Flora, Biancalana, Valerie, Latour, Philippe, Sternberg, Damien, Capri, Yline, Verloes, Alain, Bessieres, Bettina, Loeuillet, Laurence, Attie-Bitach, Tania, Martinovic, Jelena, Blesson, Sophie, Petit, Florence, Beneteau, Claire, Whalen, Sandra, Marguet, Florent, Bouligand, Jerome, Héron, Delphine, Viot, Géraldine, Amiel, Jeanne, Amram, Daniel, Bellesme, Céline, Bucourt, Martine, Faivre, Laurence, Jouk, Pierre-Simon, Khung, Suonavy, Sigaudy, Sabine, Delezoide, Anne-Lise, Goldenberg, Alice, Jacquemont, Marie-Line, Lambert, Laetitia, Layet, Valérie, Lyonnet, Stanislas, Munnich, Arnold, Van Maldergem, Lionel, Piard, Juliette, Guimiot, Fabien, Landrieu, Pierre, Letard, Pascaline, Pelluard, Fanny, Perrin, Laurence, Saint-Frison, Marie-Hélène, Topaloglu, Haluk, Trestard, Laetitia, Vincent-Delorme, Catherine, Amthor, Helge, Barnerias, Christine, Benachi, Alexandra, Bieth, Eric, Boucher, Elise, Cormier-Daire, Valerie, Delahaye-Duriez, Andrée, Desguerre, Isabelle, Eymard, Bruno, Francannet, Christine, Grotto, Sarah, Lacombe, Didier, Laffargue, Fanny, Legendre, Marine, Martin-Coignard, Dominique, Mégarbané, André, Mercier, Sandra, Nizon, Mathilde, Rigonnot, Luc, Prieur, Fabienne, Quélin, Chloé, Ranjatoelina-Randrianaivo, Hanitra, Resta, Nicoletta, Toutain, Annick, Verhelst, Helene, Vincent, Marie, Colin, Estelle, Fallet-Bianco, Catherine, Granier, Michèle, Grigorescu, Romulus, Saada, Julien, Gonzales, Marie, Guiochon-Mantel, Anne, Bessereau, Jean-Louis, Tawk, Marcel, Gut, Ivo, Gitiaux, Cyril, Melki, Judith
Publicado 2022