Online First

November 18, 2017

November 16, 2017

November 10, 2017

November 09, 2017

November 08, 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 26, 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 12, 2017

October 11, 2017

October 10, 2017

October 09, 2017

September 27, 2017

  • Biochemical genetics
    Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature
    Manuel Schiff, Céline Roda, Marie-Lorraine Monin, Alina Arion, Magali Barth, Nathalie Bednarek, Maud Bidet, Catherine Bloch, Nathalie Boddaert, Delphine Borgel, Anaïs Brassier, Alexis Brice, Arnaud Bruneel, Roger Buissonnière, Brigitte Chabrol, Marie-Chantal Chevalier, Valérie Cormier-Daire, Claire De Barace, Emmanuel De Maistre, Anne De Saint-Martin, Nathalie Dorison, Valérie Drouin-Garraud, Thierry Dupré, Bernard Echenne, Patrick Edery, François Feillet, Isabelle Fontan, Christine Francannet, François Labarthe, Cyril Gitiaux, Delphine Héron, Marie Hully, Sylvie Lamoureux, Dominique Martin-Coignard, Cyril Mignot, Gilles Morin, Tiffany Pascreau, Olivier Pincemaille, Michel Polak, Agathe Roubertie, Christel Thauvin-Robinet, Annick Toutain, Géraldine Viot, Sandrine Vuillaumier-Barrot, Nathalie Seta, Pascale De Lonlay

September 16, 2017

September 02, 2017

August 28, 2017

August 22, 2017

August 19, 2017

August 16, 2017

August 09, 2017

August 05, 2017

July 28, 2017

June 16, 2017

June 07, 2017

  • Developmental defects
    Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects
    Paul Kruszka, Pranoot Tanpaiboon, Katherine Neas, Kathleen Crosby, Seth I Berger, Ariel F Martinez, Yonit A Addissie, Yupada Pongprot, Rekwan Sittiwangkul, Suchaya Silvilairat, Krit Makonkawkeyoon, Lan Yu, Julia Wynn, James T Bennett, Heather C Mefford, William T Reynolds, Xiaoqin Liu, Mathilda T M Mommersteeg, Wendy K Chung, Cecilia W Lo, Maximilian Muenke

May 12, 2017

May 10, 2017

  • Cancer genetics
    The BRCA1 c. 5096G>A p.Arg1699Gln (R1699Q) intermediate risk variant: breast and ovarian cancer risk estimation and recommendations for clinical management from the ENIGMA consortium
    Setareh Moghadasi, Huong D Meeks, Maaike PG Vreeswijk, Linda AM Janssen, Åke Borg, Hans Ehrencrona, Ylva Paulsson-Karlsson, Barbara Wappenschmidt, Christoph Engel, Andrea Gehrig, Norbert Arnold, Thomas Van Overeem Hansen, Mads Thomassen, Uffe Birk Jensen, Torben A Kruse, Bent Ejlertsen, Anne-Marie Gerdes, Inge Søkilde Pedersen, Sandrine M Caputo, Fergus Couch, Emily J Hallberg, Ans MW van den Ouweland, Margriet J Collée, Erik Teugels, Muriel A Adank, Rob B van der Luijt, Arjen R Mensenkamp, Jan C Oosterwijk, Marinus J Blok, Nicolas Janin, Kathleen BM Claes, Kathy Tucker, Valeria Viassolo, Amanda Ewart Toland, Diana E Eccles, Peter Devilee, Christie J Van Asperen, Amanda B Spurdle, David E Goldgar, Encarna Gómez García

April 25, 2017

April 21, 2017