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Psychiatry

  • FOXP2 variants in 14 individuals with developmental speech and language disorders broaden the mutational and clinical spectrum
    Miriam S Reuter, Angelika Riess, Ute Moog, Tracy A Briggs, Kate E Chandler, Anita Rauch, Miriam Stampfer, Katharina Steindl, Dieter Gläser, Pascal Joset, DDD Study, Mandy Krumbiegel, Harald Rabe, Uta Schulte-Mattler, Peter Bauer, Stefanie Beck-Wödl, Jürgen Kohlhase, André Reis, Christiane Zweier
    Journal of Medical Genetics Jan 2017, 54 (1) 64-72; DOI: 10.1136/jmedgenet-2016-104094
  • Eight further individuals with intellectual disability and epilepsy carrying bi-allelic CNTNAP2 aberrations allow delineation of the mutational and phenotypic spectrum
    Mateja Smogavec, Alison Cleall, Juliane Hoyer, Damien Lederer, Marie-Cécile Nassogne, Elizabeth E Palmer, Marie Deprez, Valérie Benoit, Isabelle Maystadt, Charlotte Noakes, Alejandro Leal, Marie Shaw, Jozef Gecz, Lucy Raymond, André Reis, Deborah Shears, Knut Brockmann, Christiane Zweier
    Journal of Medical Genetics Dec 2016, 53 (12) 820-827; DOI: 10.1136/jmedgenet-2016-103880
  • COA7 (C1orf163/RESA1) mutations associated with mitochondrial leukoencephalopathy and cytochrome c oxidase deficiency
    Anabel Martinez Lyons, Anna Ardissone, Aurelio Reyes, Alan J Robinson, Isabella Moroni, Daniele Ghezzi, Erika Fernandez-Vizarra, Massimo Zeviani
    Journal of Medical Genetics Dec 2016, 53 (12) 846-849; DOI: 10.1136/jmedgenet-2016-104194
  • Genetic and neurodevelopmental spectrum of SYNGAP1-associated intellectual disability and epilepsy
    Cyril Mignot, Celina von Stülpnagel, Caroline Nava, Dorothée Ville, Damien Sanlaville, Gaetan Lesca, Agnès Rastetter, Benoit Gachet, Yannick Marie, G Christoph Korenke, Ingo Borggraefe, Dorota Hoffmann-Zacharska, Elżbieta Szczepanik, Mariola Rudzka-Dybała, Uluç Yiş, Hande Çağlayan, Arnaud Isapof, Isabelle Marey, Eleni Panagiotakaki, Christian Korff, Eva Rossier, Angelika Riess, Stefanie Beck-Woedl, Anita Rauch, Christiane Zweier, Juliane Hoyer, André Reis, Mikhail Mironov, Maria Bobylova, Konstantin Mukhin, Laura Hernandez-Hernandez, Bridget Maher, Sanjay Sisodiya, Marius Kuhn, Dieter Glaeser, Sarah Weckhuysen, Candace T Myers, Heather C Mefford, Konstanze Hörtnagel, Saskia Biskup, EuroEPINOMICS-RES MAE working group, Johannes R Lemke, Delphine Héron, Gerhard Kluger, Christel Depienne
    Journal of Medical Genetics Aug 2016, 53 (8) 511-522; DOI: 10.1136/jmedgenet-2015-103451
  • Clinical course of sly syndrome (mucopolysaccharidosis type VII)
    Adriana M Montaño, Ngu Lock-Hock, Robert D Steiner, Brett H Graham, Marina Szlago, Robert Greenstein, Mercedes Pineda, Antonio Gonzalez-Meneses, Mahmut Çoker, Dennis Bartholomew, Mark S Sands, Raymond Wang, Roberto Giugliani, Alfons Macaya, Gregory Pastores, Anastasia K Ketko, Fatih Ezgü, Akemi Tanaka, Laila Arash, Michael Beck, Rena E Falk, Kaustuv Bhattacharya, José Franco, Klane K White, Grant A Mitchell, Loreta Cimbalistiene, Max Holtz, William S Sly
    Journal of Medical Genetics Jun 2016, 53 (6) 403-418; DOI: 10.1136/jmedgenet-2015-103322
  • Recurrent copy number variations as risk factors for neurodevelopmental disorders: critical overview and analysis of clinical implications
    Fátima Torres, Mafalda Barbosa, Patrícia Maciel
    Journal of Medical Genetics Feb 2016, 53 (2) 73-90; DOI: 10.1136/jmedgenet-2015-103366
  • Hypomyelination and developmental delay associated with VPS11 mutation in Ashkenazi-Jewish patients
    Shimon Edvardson, Frank Gerhard, Chaim Jalas, Jens Lachmann, Dafna Golan, Ann Saada, Avraham Shaag, Christian Ungermann, Orly Elpeleg
    Journal of Medical Genetics Nov 2015, 52 (11) 749-753; DOI: 10.1136/jmedgenet-2015-103239
  • Exploring genotype-phenotype relationships in Bardet-Biedl syndrome families
    Sheila Castro-Sánchez, María Álvarez-Satta, Marta Cortón, Encarna Guillén, Carmen Ayuso, Diana Valverde
    Journal of Medical Genetics Aug 2015, 52 (8) 503-513; DOI: 10.1136/jmedgenet-2015-103099
  • Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity
    R Bachmann-Gagescu, J C Dempsey, I G Phelps, B J O'Roak, D M Knutzen, T C Rue, G E Ishak, C R Isabella, N Gorden, J Adkins, E A Boyle, N de Lacy, D O'Day, A Alswaid, Radha Ramadevi A, L Lingappa, C Lourenço, L Martorell, À Garcia-Cazorla, H Ozyürek, G Haliloğlu, B Tuysuz, M Topçu, University of Washington Center for Mendelian Genomics, P Chance, M A Parisi, I A Glass, J Shendure, D Doherty
    Journal of Medical Genetics Aug 2015, 52 (8) 514-522; DOI: 10.1136/jmedgenet-2015-103087
  • Efficient strategy for the molecular diagnosis of intellectual disability using targeted high-throughput sequencing
    Claire Redin, Bénédicte Gérard, Julia Lauer, Yvan Herenger, Jean Muller, Angélique Quartier, Alice Masurel-Paulet, Marjolaine Willems, Gaétan Lesca, Salima El-Chehadeh, Stéphanie Le Gras, Serge Vicaire, Muriel Philipps, Michaël Dumas, Véronique Geoffroy, Claire Feger, Nicolas Haumesser, Yves Alembik, Magalie Barth, Dominique Bonneau, Estelle Colin, Hélène Dollfus, Bérénice Doray, Marie-Ange Delrue, Valérie Drouin-Garraud, Elisabeth Flori, Mélanie Fradin, Christine Francannet, Alice Goldenberg, Serge Lumbroso, Michèle Mathieu-Dramard, Dominique Martin-Coignard, Didier Lacombe, Gilles Morin, Anne Polge, Sylvie Sukno, Christel Thauvin-Robinet, Julien Thevenon, Martine Doco-Fenzy, David Genevieve, Pierre Sarda, Patrick Edery, Bertrand Isidor, Bernard Jost, Laurence Olivier-Faivre, Jean-Louis Mandel, Amélie Piton
    Journal of Medical Genetics Nov 2014, 51 (11) 724-736; DOI: 10.1136/jmedgenet-2014-102554

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