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High-throughput sequencing

  • 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
  • Genetic complexity in hypertrophic cardiomyopathy revealed by high-throughput sequencing
    Luis R Lopes, Anna Zekavati, Petros Syrris, Mike Hubank, Claudia Giambartolomei, Chrysoula Dalageorgou, Sharon Jenkins, William McKenna, Uk10k Consortium Consortium, Vincent Plagnol, Perry M Elliott
    Journal of Medical Genetics Apr 2013, 50 (4) 228-239; DOI: 10.1136/jmedgenet-2012-101270
  • Digenic inheritance in medical genetics
    Alejandro A Schäffer
    Journal of Medical Genetics Oct 2013, 50 (10) 641-652; DOI: 10.1136/jmedgenet-2013-101713