Single center experience in Next Generation Sequencing for genetic diagnosis of Autoinflammatory Disorders (AIDs)

Eitemau Tebyg

• Positive Impact of Expert Reference Center Validation on Performance of Next-Generation Sequencing for Genetic Diagnosis of Autoinflammatory Diseases
  gan: Boursier, Guilaine, et al.
  Cyhoeddwyd: (2019)
• Inflammatory Cytokine response in a cohort of patients carrying novel NLRP12 variants
  gan: Raganelli, L, et al.
  Cyhoeddwyd: (2015)
• A Next Generation Sequencing approach to the mutational screening of patients affected with systemic autoinflammatory disorders: diagnosis improvement and interpretation of complex clinical phenotypes
  gan: Rusmini, M, et al.
  Cyhoeddwyd: (2015)
• Noninvasive Diagnosis of Infection Using Plasma Next-Generation Sequencing: A Single-Center Experience
  gan: Rossoff, Jenna, et al.
  Cyhoeddwyd: (2019)
• PReS-FINAL-2200: Phenotype of V198M and Q703K NLRP3 variants
  gan: Messia, V, et al.
  Cyhoeddwyd: (2013)