Hospital Universitaire Des Enfants Reine Fabiola

Top Publications

Top Publications Authored or Co-Authored in "Hospital Universitaire Des Enfants Reine Fabiola"

• Inborn errors of type I IFN immunity in patients with life-threatening COVID-19

  Science, Volume 370, No. 6515, Article eabd4570, Year 2020, Citations 1405
• Gene therapy for immunodeficiency due to adenosine deaminase deficiency

  New England Journal of Medicine, Volume 360, No. 5, Year 2009, Citations 924
• Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1

  American Journal of Medical Genetics, Part A, Volume 167, No. 2, Year 2015, Citations 449
• Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders

  Brain, Volume 140, No. 5, Year 2017, Citations 390
• Sickle cell disease: An international survey of results of HLA-identical sibling hematopoietic stem cell transplantation

  Blood, Volume 129, No. 11, Year 2017, Citations 344