Online First

March 25, 2017

  • New disease loci
    De novo mutations in CBL causing early-onset paediatric moyamoya angiopathy
    Stéphanie Guey, Lou Grangeon, Francis Brunelle, Françoise Bergametti, Jeanne Amiel, Stanislas Lyonnet, Audrey Delaforge, Minh Arnould, Béatrice Desnous, Céline Bellesme, Dominique Hervé, Jan C Schwitalla, Markus Kraemer, Elisabeth Tournier-Lasserve, Manoelle Kossorotoff

March 22, 2017

March 17, 2017

March 14, 2017

March 13, 2017

  • Complex traits
    Multiple signals at the extended 8p23 locus are associated with susceptibility to systemic lupus erythematosus
    F Yesim Demirci, Xingbin Wang, David L Morris, Eleanor Feingold, Sasha Bernatsky, Christian Pineau, Ann Clarke, Rosalind Ramsey-Goldman, Susan Manzi, Timothy J Vyse, M Ilyas Kamboh
  • Review
    Fifteen years of research on oral–facial–digital syndromes: from 1 to 16 causal genes
    Ange-Line Bruel, Brunella Franco, Yannis Duffourd, Julien Thevenon, Laurence Jego, Estelle Lopez, Jean-François Deleuze, Diane Doummar, Rachel H Giles, Colin A Johnson, Martijn A Huynen, Véronique Chevrier, Lydie Burglen, Manuela Morleo, Isabelle Desguerres, Geneviève Pierquin, Bérénice Doray, Brigitte Gilbert-Dussardier, Bruno Reversade, Elisabeth Steichen-Gersdorf, Clarisse Baumann, Inusha Panigrahi, Anne Fargeot-Espaliat, Anne Dieux, Albert David, Alice Goldenberg, Ernie Bongers, Dominique Gaillard, Jesús Argente, Bernard Aral, Nadège Gigot, Judith St-Onge, Daniel Birnbaum, Shubha R Phadke, Valérie Cormier-Daire, Thibaut Eguether, Gregory J Pazour, Vicente Herranz-Pérez, Jaclyn S Goldstein, Laurent Pasquier, Philippe Loget, Sophie Saunier, André Mégarbané, Olivier Rosnet, Michel R Leroux, John B Wallingford, Oliver E Blacque, Maxence V Nachury, Tania Attie-Bitach, Jean-Baptiste Rivière, Laurence Faivre, Christel Thauvin-Robinet

March 10, 2017

March 9, 2017

March 7, 2017

  • Copy-number variation
    PBX1 haploinsufficiency leads to syndromic congenital anomalies of the kidney and urinary tract (CAKUT) in humans
    Pauline Le Tanno, Julie Breton, Marie Bidart, Véronique Satre, Radu Harbuz, Pierre F Ray, Caroline Bosson, Klaus Dieterich, Sylvie Jaillard, Sylvie Odent, Gemma Poke, Rachel Beddow, Maria Christina Digilio, Antonio Novelli, Laura Bernardini, Maria Antonietta Pisanti, Luisa Mackenroth, Karl Hackmann, Ida Vogel, Rikke Christensen, Siv Fokstuen, Frédérique Béna, Florence Amblard, Francoise Devillard, Gaelle Vieville, Alexia Apostolou, Pierre-Simon Jouk, Fitsum Guebre-Egziabher, Hervé Sartelet, Charles Coutton

March 6, 2017

March 3, 2017

January 24, 2017

  • Developmental defects
    STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability
    Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Megan T Cho, Amanda Clarkson, Orrin Devinsky, Yannis Duffourd, Laurence Duplomb-Jego, Bénédicte Gérard, Aurélia Jacquette, Paul Kuentz, Alice Masurel-Paulet, Carey McDougall, Sébastien Moutton, Hilde Olivié, Soo-Mi Park, Anita Rauch, Nicole Revencu, Jean-Baptiste Rivière, Karol Rubin, Ingrid Simonic, Deborah J Shears, Thomas Smol, Ana Lisa Taylor Tavares, Paulien Terhal, Julien Thevenon, Koen Van Gassen, Catherine Vincent-Delorme, Marjolein H Willemsen, Golder N Wilson, Elaine Zackai, Christiane Zweier, Patrick Callier, Christel Thauvin-Robinet, Laurence Faivre

January 21, 2017

January 13, 2017

January 9, 2017

December 30, 2016

December 28, 2016

December 22, 2016

December 21, 2016

December 16, 2016

December 9, 2016

October 31, 2016

September 8, 2016