whole genome sequencing

  • Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders
    Caroline Schluth-Bolard, Flavie Diguet, Nicolas Chatron, Pierre-Antoine Rollat-Farnier, Claire Bardel, Alexandra Afenjar, Florence Amblard, Jeanne Amiel, Sophie Blesson, Patrick Callier, Yline Capri, Patrick Collignon, Marie-Pierre Cordier, Christine Coubes, Benedicte Demeer, Annabelle Chaussenot, Florence Demurger, Françoise Devillard, Martine Doco-Fenzy, Céline Dupont, Jean-Michel Dupont, Sophie Dupuis-Girod, Laurence Faivre, Brigitte Gilbert-Dussardier, Anne-Marie Guerrot, Marine Houlier, Bertrand Isidor, Sylvie Jaillard, Géraldine Joly-Hélas, Valérie Kremer, Didier Lacombe, Cédric Le Caignec, Aziza Lebbar, Marine Lebrun, Gaetan Lesca, James Lespinasse, Jonathan Levy, Valérie Malan, Michele Mathieu-Dramard, Julie Masson, Alice Masurel-Paulet, Cyril Mignot, Chantal Missirian, Fanny Morice-Picard, Sébastien Moutton, Gwenaël Nadeau, Céline Pebrel-Richard, Sylvie Odent, Véronique Paquis-Flucklinger, Laurent Pasquier, Nicole Philip, Morgane Plutino, Linda Pons, Marie-France Portnoï, Fabienne Prieur, Jacques Puechberty, Audrey Putoux, Marlène Rio, Caroline Rooryck-Thambo, Massimiliano Rossi, Catherine Sarret, Véronique Satre, Jean-Pierre Siffroi, Marianne Till, Renaud Touraine, Annick Toutain, Jérome Toutain, Stéphanie Valence, Alain Verloes, Sandra Whalen, Patrick Edery, Anne-Claude Tabet, Damien Sanlaville
  • Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children
    Lamia Mestek-Boukhibar, Emma Clement, Wendy D Jones, Suzanne Drury, Louise Ocaka, Andrey Gagunashvili, Polona Le Quesne Stabej, Chiara Bacchelli, Nital Jani, Shamima Rahman, Lucy Jenkins, Jane A Hurst, Maria Bitner-Glindzicz, Mark Peters, Philip L Beales, Hywel J Williams