Geńin, Emmanuelle

Top Publications

Top Publications Authored or Co-Authored by "Geńin, Emmanuelle"

• Interleukin-36-receptor antagonist deficiency and generalized pustular psoriasis

  New England Journal of Medicine, Volume 365, No. 7, Year 2011, Citations 802
• Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindreds

  American Journal of Human Genetics, Volume 70, No. 2, Year 2002, Citations 289
• Contribution of rare and predicted pathogenic gene variants to childhood-onset lupus: a large, genetic panel analysis of British and French cohorts

  The Lancet Rheumatology, Volume 2, No. 2, Year 2020, Citations 85
• Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy

  American Journal of Human Genetics, Volume 99, No. 3, Year 2016, Citations 75
• The CHRNE 1293insG founder mutation is a frequent cause of congenital myasthenia in North Africa

  Neurology, Volume 71, No. 24, Year 2008, Citations 29