Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly
Poirier, Karine, Lebrun, Nicolas, Broix, Loic, Tian, Guoling, Saillour, Yoann, Boscheron, Cécile, Parrini, Elena, Valence, Stephanie, Pierre, Benjamin Saint, Oger, Madison, Lacombe, Didier, Geneviève, David, Fontana, Elena, Darra, Franscesca, Cances, Claude, Barth, Magalie, Bonneau, Dominique, Bernadina, Bernardo Dalla, N'guyen, Sylvie, Gitiaux, Cyril, Parent, Philippe, des Portes, Vincent, Pedespan, Jean Michel, Legrez, Victoire, Castelnau-Ptakine, Laetitia, Nitschke, Patrick, Hieu, Thierry, Masson, Cecile, Zelenika, Diana, Andrieux, Annie, Francis, Fiona, Guerrini, Renzo, Cowan, Nicholas J, Bahi-Buisson, Nadia, Chelly, Jamel
Published in Nature genetics (01.06.2013)
Published in Nature genetics (01.06.2013)
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Mutation Update for COL2A1 Gene Variants Associated with Type II Collagenopathies
Barat-Houari, Mouna, Sarrabay, Guillaume, Gatinois, Vincent, Fabre, Aurélie, Dumont, Bruno, Genevieve, David, Touitou, Isabelle
Published in Human mutation (01.01.2016)
Published in Human mutation (01.01.2016)
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Chromosome 14q32.2 Imprinted Region Disruption as an Alternative Molecular Diagnosis of Silver-Russell Syndrome
Geoffron, Sophie, Abi Habib, Walid, Chantot-Bastaraud, Sandra, Dubern, Béatrice, Steunou, Virginie, Azzi, Salah, Afenjar, Alexandra, Busa, Tiffanny, Pinheiro Canton, Ana, Chalouhi, Christel, Dufourg, Marie-Noëlle, Esteva, Blandine, Fradin, Mélanie, Geneviève, David, Heide, Solveig, Isidor, Bertrand, Linglart, Agnès, Morice Picard, Fanny, Naud-Saudreau, Catherine, Oliver Petit, Isabelle, Philip, Nicole, Pienkowski, Catherine, Rio, Marlène, Rossignol, Sylvie, Tauber, Maithé, Thevenon, Julien, Vu-Hong, Thuy-Ai, Harbison, Madeleine D, Salem, Jennifer, Brioude, Frédéric, Netchine, Irène, Giabicani, Eloïse
Published in The journal of clinical endocrinology and metabolism (01.07.2018)
Published in The journal of clinical endocrinology and metabolism (01.07.2018)
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A decision tree for the genetic diagnosis of deficiency of adenosine deaminase 2 (DADA2): a French reference centres experience
Rama, Mélanie, Duflos, Claire, Melki, Isabelle, Bessis, Didier, Bonhomme, Axelle, Martin, Hélène, Doummar, Diane, Valence, Stéphanie, Rodriguez, Diana, Carme, Emilie, Genevieve, David, Heimdal, Ketil, Insalaco, Antonella, Franck, Nathalie, Queyrel-Moranne, Viviane, Tieulie, Nathalie, London, Jonathan, Uettwiller, Florence, Georgin-Lavialle, Sophie, Belot, Alexandre, Koné-Paut, Isabelle, Hentgen, Véronique, Boursier, Guilaine, Touitou, Isabelle, Sarrabay, Guillaume
Published in European journal of human genetics : EJHG (01.07.2018)
Published in European journal of human genetics : EJHG (01.07.2018)
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Germline deletion of the miR-17∼92 cluster causes skeletal and growth defects in humans
Ventura, Andrea, Amiel, Jeanne, de Pontual, Loïc, Yao, Evelyn, Callier, Patrick, Faivre, Laurence, Drouin, Valérie, Cariou, Sandra, Van Haeringen, Arie, Geneviève, David, Goldenberg, Alice, Oufadem, Myriam, Manouvrier, Sylvie, Munnich, Arnold, Vidigal, Joana Alves, Vekemans, Michel, Lyonnet, Stanislas, Henrion-Caude, Alexandra
Published in Nature genetics (01.10.2011)
Published in Nature genetics (01.10.2011)
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Genetic analysis of adults heterozygous for ALPL mutations
Taillandier, Agnès, Domingues, Christelle, Dufour, Annika, Debiais, Françoise, Guggenbuhl, Pascal, Roux, Christian, Cormier, Catherine, Cortet, Bernard, Porquet-Bordes, Valérie, Coury, Fabienne, Geneviève, David, Chiesa, Jean, Colin, Thierry, Fletcher, Elaine, Guichet, Agnès, Javier, Rose-Marie, Laroche, Michel, Laurent, Michael, Lausch, Ekkehart, LeHeup, Bruno, Lukas, Cédric, Schwabe, Georg, van der Burgt, Ineke, Muti, Christine, Simon-Bouy, Brigitte, Mornet, Etienne
Published in Journal of bone and mineral metabolism (01.11.2018)
Published in Journal of bone and mineral metabolism (01.11.2018)
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A new autoinflammatory and autoimmune syndrome associated with NLRP1 mutations: NAIAD (NLRP1-associated autoinflammation with arthritis and dyskeratosis)
Grandemange, Sylvie, Sanchez, Elodie, Louis-Plence, Pascale, Tran Mau-Them, Frédéric, Bessis, Didier, Coubes, Christine, Frouin, Eric, Seyger, Marieke, Girard, Manon, Puechberty, Jacques, Costes, Valérie, Rodière, Michel, Carbasse, Aurélia, Jeziorski, Eric, Portales, Pierre, Sarrabay, Guillaume, Mondain, Michel, Jorgensen, Christian, Apparailly, Florence, Hoppenreijs, Esther, Touitou, Isabelle, Geneviève, David
Published in Annals of the rheumatic diseases (01.07.2017)
Published in Annals of the rheumatic diseases (01.07.2017)
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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4
Sanchez, Elodie, Laplace-Builhé, Béryl, Mau-Them, Frédéric Tran, Richard, Eric, Goldenberg, Alice, Toler, Tomi L., Guignard, Thomas, Gatinois, Vincent, Vincent, Marie, Blanchet, Catherine, Boland, Anne, Bihoreau, Marie Thérèse, Deleuze, Jean-Francois, Olaso, Robert, Nephi, Walton, Lüdecke, Hermann-Josef, Verheij, Joke, Moreau-Lenoir, Florence, Denoyelle, Françoise, Rivière, Jean-Baptiste, Laplanche, Jean-Louis, Willing, Marcia, Captier, Guillaume, Apparailly, Florence, Wieczorek, Dagmar, Collet, Corinne, Djouad, Farida, Geneviève, David
Published in Genetics in medicine (01.03.2020)
Published in Genetics in medicine (01.03.2020)
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Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases
Testard, Quentin, Vanhoye, Xavier, Yauy, Kevin, Naud, Marie-Emmanuelle, Vieville, Gaelle, Rousseau, Francis, Dauriat, Benjamin, Marquet, Valentine, Bourthoumieu, Sylvie, Geneviève, David, Gatinois, Vincent, Wells, Constance, Willems, Marjolaine, Coubes, Christine, Pinson, Lucile, Dard, Rodolphe, Tessier, Aude, Hervé, Bérénice, Vialard, François, Harzallah, Ines, Touraine, Renaud, Cogné, Benjamin, Deb, Wallid, Besnard, Thomas, Pichon, Olivier, Laudier, Béatrice, Mesnard, Laurent, Doreille, Alice, Busa, Tiffany, Missirian, Chantal, Satre, Véronique, Coutton, Charles, Celse, Tristan, Harbuz, Radu, Raymond, Laure, Taly, Jean-François, Thevenon, Julien
Published in Journal of medical genetics (01.12.2022)
Published in Journal of medical genetics (01.12.2022)
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Pycnodysostosis: Natural history and management guidelines from 27 French cases and a literature review
Bizaoui, Varoona, Michot, Caroline, Baujat, Geneviève, Amouroux, Cyril, Baron, Sabine, Capri, Yline, Cohen‐Solal, Martine, Collet, Corinne, Dieux, Anne, Geneviève, David, Isidor, Bertrand, Monnot, Sophie, Rossi, Massimiliano, Rothenbuhler, Anya, Schaefer, Elise, Cormier‐Daire, Valérie
Published in Clinical genetics (01.10.2019)
Published in Clinical genetics (01.10.2019)
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Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis
Ruault, Valentin, Yauy, Kevin, Fabre, Aurélie, Fradin, Mélanie, Van-Gils, Julien, Angelini, Chloé, Baujat, Geneviève, Blanchet, Patricia, Cuinat, Silvestre, Isidor, Bertrand, Jorgensen, Christian, Lacombe, Didier, Moutton, Sébastien, Odent, Sylvie, Sanchez, Elodie, Sigaudy, Sabine, Touitou, Isabelle, Willems, Marjolaine, Apparailly, Florence, Geneviève, David, Barat-Houari, Mouna
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2020)
Published in Arthritis & rheumatology (Hoboken, N.J.) (01.10.2020)
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Autoimmune cytopenia and Kabuki syndrome in paediatrics: Insights in 11 patients
Bianchi, Chloé, Margot, Henri, Fernandes, Helder, Pasquet, Marlène, Priqueler, Laurence, Roy‐Peaud, Frédérique, Bauduer, Frédéric, Bayart, Sophie, Garnier, Nathalie, Fain, Olivier, Van Gils, Julien, Joly, Sandrine Baron, Rialland, Fanny, Paillard, Catherine, Deparis, Marianna, Lambilliotte, Anne, Leblanc, Thierry, Fahd, Mony, Leverger, Guy, Héritier, Sébastien, Geneviève, David, Rieux‐Laucat, Frédéric, Picard, Capucine, Neyraud, Caroline, Aladjidi, Nathalie
Published in British journal of haematology (01.05.2024)
Published in British journal of haematology (01.05.2024)
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Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism
Tomé, Stéphanie, Dandelot, Elodie, Dogan, Céline, Bertrand, Alexis, Geneviève, David, Péréon, Yann, Simon, Marie, Bonnefont, Jean‐Paul, Bassez, Guillaume, Gourdon, Geneviève
Published in Human mutation (01.07.2018)
Published in Human mutation (01.07.2018)
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Next generation phenotyping for diagnosis and phenotype-genotype correlations in Kabuki syndrome
Hennocq, Quentin, Willems, Marjolaine, Amiel, Jeanne, Arpin, Stéphanie, Attie-Bitach, Tania, Bongibault, Thomas, Bouygues, Thomas, Cormier-Daire, Valérie, Corre, Pierre, Dieterich, Klaus, Douillet, Maxime, Feydy, Jean, Galliani, Eva, Giuliano, Fabienne, Lyonnet, Stanislas, Picard, Arnaud, Porntaveetus, Thantrira, Rio, Marlène, Rouxel, Flavien, Shotelersuk, Vorasuk, Toutain, Annick, Yauy, Kevin, Geneviève, David, Khonsari, Roman H, Garcelon, Nicolas
Published in Scientific reports (28.01.2024)
Published in Scientific reports (28.01.2024)
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Knowledge exchange sessions on primary health care research findings in public libraries: A qualitative study with citizens in Quebec
Laberge, Maude, Brundisini, Francesca Katherine, Zomahoun, Hervé Tchala Vignon, Sawadogo, Jasmine, Massougbodji, José, Gogovor, Amédé, David, Geneviève, Légaré, France
Published in PloS one (25.07.2023)
Published in PloS one (25.07.2023)
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Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome): genotype and phenotype of 22 patients with ZNF148 mutations
Szakszon, Katalin, Lourenco, Charles Marques, Callewaert, Bert Louis, Geneviève, David, Rouxel, Flavien, Morin, Denis, Denommé-Pichon, Anne-Sophie, Vitobello, Antonio, Patterson, Wesley G, Louie, Raymond, Pinto E Vairo, Filippo, Klee, Eric, Kaiwar, Charu, Gavrilova, Ralitza H, Agre, Katherine E, Jacquemont, Sebastien, Khadijé, Jizi, Giltay, Jacques, van Gassen, Koen, Merő, Gabriella, Gerkes, Erica, Van Bon, Bregje W, Rinne, Tuula, Pfundt, Rolph, Brunner, Han G, Caluseriu, Oana, Grasshoff, Ute, Kehrer, Martin, Haack, Tobias B, Khelifa, Melik Malek, Bergmann, Anke Katharina, Cueto-González, Anna Maria, Martorell, Ariadna Campos, Ramachandrappa, Shwetha, Sawyer, Lindsey B, Fasel, Pascale, Braun, Dominique, Isis, Atallah, Superti-Furga, Andrea, McNiven, Vanda, Chitayat, David, Ahmed, Syed Anas, Brennenstuhl, Heiko, Schwaibolf, Eva Mc, Battisti, Gladys, Parmentier, Benoit, Stevens, Servi J C
Published in Journal of medical genetics (01.02.2024)
Published in Journal of medical genetics (01.02.2024)
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Postzygotic inactivating mutations of RHOA cause a mosaic neuroectodermal syndrome
Vabres, Pierre, Sorlin, Arthur, Kholmanskikh, Stanislav S, Demeer, Bénédicte, St-Onge, Judith, Duffourd, Yannis, Kuentz, Paul, Courcet, Jean-Benoît, Carmignac, Virginie, Garret, Philippine, Bessis, Didier, Boute, Odile, Bron, Alain, Captier, Guillaume, Carmi, Esther, Devauchelle, Bernard, Geneviève, David, Gondry-Jouet, Catherine, Guibaud, Laurent, Lafon, Arnaud, Mathieu-Dramard, Michèle, Thevenon, Julien, Dobyns, William B, Bernard, Geneviève, Polubothu, Satyamaanasa, Faravelli, Francesca, Kinsler, Veronica A, Thauvin, Christel, Faivre, Laurence, Ross, M Elizabeth, Rivière, Jean-Baptiste
Published in Nature genetics (01.10.2019)
Published in Nature genetics (01.10.2019)
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Smith‐Magenis syndrome: Clinical and behavioral characteristics in a large retrospective cohort
Rive Le Gouard, Nicolas, Jacquinet, Adeline, Ruaud, Lyse, Deleersnyder, Hélène, Ageorges, Faustine, Gallard, Jennifer, Lacombe, Didier, Odent, Sylvie, Mikaty, Myriam, Manouvrier‐Hanu, Sylvie, Ghoumid, Jamal, Geneviève, David, Lehman, Natacha, Philip, Nicole, Edery, Patrick, Héron, Delphine, Rastel, Coralie, Chancenotte, Sophie, Thauvin‐Robinet, Christel, Faivre, Laurence, Perrin, Laurence, Verloes, Alain
Published in Clinical genetics (01.04.2021)
Published in Clinical genetics (01.04.2021)
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Association between prenatal and perinatal factors and the severity of clinical presentation of children with ASD: Report from the ELENA COHORT
Traver, Sabine, Geoffray, Marie-Maude, Mazières, Lucile, Geneviève, David, Michelon, Cécile, Picot, Marie-Christine, Baghdadli, Amaria
Published in Journal of psychiatric research (01.05.2021)
Published in Journal of psychiatric research (01.05.2021)
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