Online First

January 22, 2018

  • Novel disease loci
    FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta
    Mathilde Doyard, Séverine Bacrot, Céline Huber, Maja Di Rocco, Alice Goldenberg, Mona S Aglan, Perrine Brunelle, Samia Temtamy, Caroline Michot, Ghada A Otaify, Coralie Haudry, Mireille Castanet, Julien Leroux, Jean-Paul Bonnefont, Arnold Munnich, Geneviève Baujat, Pablo Lapunzina, Sophie Monnot, Victor L Ruiz-Perez, Valérie Cormier-Daire
  • Diagnostics
    Catalogue of inherited disorders found among the Irish Traveller population
    Sally Ann Lynch, Ellen Crushell, Deborah M Lambert, Niall Byrne, Kathleen Gorman, Mary D King, Andrew Green, Siobhan O’Sullivan, Fiona Browne, Joanne Hughes, Ina Knerr, Ahmad A Monavari, Melanie Cotter, Vivienne P M McConnell, Bronwyn Kerr, Simon A Jones, Catriona Keenan, Nuala Murphy, Declan Cody, Sean Ennis, Jackie Turner, Alan D Irvine, Jillian Casey
  • Diagnostics
    High predictive value of brain MRI imaging in primary mitochondrial respiratory chain deficiency
    Isaure de Beaurepaire, David Grévent, Marlène Rio, Isabelle Desguerre, Pascale de Lonlay, Raphaël Levy, Volodia Dangouloff-Ros, Jean-Paul Bonnefont, Giulia Barcia, Benoit Funalot, Claude Besmond, Metodi D Metodiev, Benedetta Ruzzenente, Zahra Assouline, Arnold Munnich, Agnès Rötig, Nathalie Boddaert

January 13, 2018

January 12, 2018

January 06, 2018

January 05, 2018

January 04, 2018

December 27, 2017

December 23, 2017

December 20, 2017

November 24, 2017

November 18, 2017

November 10, 2017

November 02, 2017

  • Phenotypes
    PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
    Margot R F Reijnders, Robert Janowski, Mohsan Alvi, Jay E Self, Ton J van Essen, Maaike Vreeburg, Rob P W Rouhl, Servi J C Stevens, Alexander P A Stegmann, Jolanda Schieving, Rolph Pfundt, Katinke van Dijk, Eric Smeets, Connie T R M Stumpel, Levinus A Bok, Jan Maarten Cobben, Marc Engelen, Sahar Mansour, Margo Whiteford, Kate E Chandler, Sofia Douzgou, Nicola S Cooper, Ene-Choo Tan, Roger Foo, Angeline H M Lai, Julia Rankin, Andrew Green, Tuula Lönnqvist, Pirjo Isohanni, Shelley Williams, Ilene Ruhoy, Karen S Carvalho, James J Dowling, Dorit L Lev, Katalin Sterbova, Petra Lassuthova, Jana Neupauerová, Jeff L Waugh, Sotirios Keros, Jill Clayton-Smith, Sarah F Smithson, Han G Brunner, Ceciel van Hoeckel, Mel Anderson, Virginia E Clowes, Victoria Mok Siu, The DDD study, Paulo Selber, Richard J Leventer, Christoffer Nellaker, Dierk Niessing, David Hunt, Diana Baralle

October 27, 2017

October 25, 2017

  • Cancer genetics
    Contribution of de novo and mosaic TP53 mutations to Li-Fraumeni syndrome
    Mariette Renaux-Petel, Françoise Charbonnier, Jean-Christophe Théry, Pierre Fermey, Gwendoline Lienard, Jacqueline Bou, Sophie Coutant, Myriam Vezain, Edwige Kasper, Steeve Fourneaux, Sandrine Manase, Maud Blanluet, Bruno Leheup, Ludovic Mansuy, Jacqueline Champigneulle, Céline Chappé, Michel Longy, Nicolas Sévenet, Brigitte Bressac-de Paillerets, Léa Guerrini-Rousseau, Laurence Brugières, Olivier Caron, Jean-Christophe Sabourin, Isabelle Tournier, Stéphanie Baert-Desurmont, Thierry Frébourg, Gaëlle Bougeard

October 09, 2017

September 16, 2017

September 02, 2017

August 28, 2017

August 22, 2017

August 19, 2017

August 09, 2017

July 28, 2017