Litcius/Paper detail

Improving the diagnostic efficiency of primary immunodeficiencies with targeted next-generation sequencing

Mathieu Fusaro, Jérémie Rosain, Virginie Grandin, Nathalie Lambert, Sylvain Hanein, Cécile Fourrage, Nicholas Renaud, Marine Gil, Samuel Chevalier, Wadih Abou Chahla, Brigitte Bader‐Meunier, Vincent Barlogis, Stéphane Blanche, David Boutboul, Martin Castelle, Thibault Comont, Jean‐Sébastien Diana, Claire Fieschi, Lionel Galicier, Olivier Hermine, Alain Lefèvre‐Utile, Marion Malphettes, Étienne Merlin, Éric Oksenhendler, Marlène Pasquet, Felipe Suárez, Isabelle André‐Schmutz, Vivien Béziat, Geneviève de Saint Basile, Jean‐Pierre de Villartay, Sven Kracker, Chantal Lagresle‐Peyrou, Sylvain Latour, Frédéric Rieux‐Laucat, Nizar Mahlaoui, Christine Bole, Patrick Nitschké, Elisabeth Hulier-Ammar, Alain Fischer, Despina Moshous, Bénédicte Neven, Alexandre Alcaïs, Guillaume Vogt, Jacinta Bustamante, Capucine Pïcard

2020Journal of Allergy and Clinical Immunology32 citationsDOIOpen Access PDF

Topics & Concepts

Primary immunodeficiencyExome sequencingSanger sequencingMedicineDNA sequencingGenetic testingNewborn screeningGenetic heterogeneityMedical geneticsSevere combined immunodeficiencyDiseaseBioinformaticsGeneticsMutationPediatricsBiologyPhenotypeInternal medicineGeneImmunodeficiency and Autoimmune DisordersCystic Fibrosis Research AdvancesTracheal and airway disorders