Institut Jérôme Lejeune

Top Publications

Top Publications Authored or Co-Authored in "Institut Jérôme Lejeune"

• X-linked recessive TLR7 deficiency in ~1% of men under 60 years old with life-threatening COVID-19

  Science Immunology, Volume 6, No. 62, Article eabl4348, Year 2021, Citations 206
• Williams–Beuren syndrome in diverse populations

  American Journal of Medical Genetics, Part A, Volume 176, No. 5, Year 2018, Citations 69
• A novel deletion in ZBTB24 in a Lebanese family with immunodeficiency, centromeric instability, and facial anomalies syndrome type 2

  Clinical Genetics, Volume 82, No. 5, Year 2012, Citations 46
• Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type i IFN production

  Journal of Clinical Investigation, Volume 125, No. 11, Year 2015, Citations 43
• Report on a patient with a 12q24.31 microdeletion inherited from an insulin-dependent diabetes mellitus father

  Molecular Syndromology, Volume 4, No. 3, Year 2013, Citations 16