PulseExploreJournal ClubDebatesTrendingResearchersJournals
Instagram
HomeExploreJournal ClubTrending
Synapse
⌘+K
Synapse
April 5, 2026EBioMedicine0 citationsOpen Access

Exome sequencing enables molecular diagnosis in 10% of early-onset or familial systemic lupus erythematosus cases

View Full Paper
MTMaud TusseauSKSamira Khaldi-PlassartALAudrey Labalme

Key Points

  • This research aims to determine the effectiveness of exome sequencing in diagnosing early-onset and familial systemic lupus erythematosus.
  • Utilized exome sequencing to analyze genetic data.
  • Focused on cases of early-onset and familial systemic lupus erythematosus.
  • Collaborated with multiple research institutions for comprehensive support.
  • Achieved molecular diagnosis in 10% of examined systemic lupus erythematosus cases.
  • Demonstrated the viability of genetic testing in identifying underlying causes.

Abstract

This work was supported by: The Institut National de la Santé et de la Recherche Médicale (INSERM); Government grants managed by the Agence Nationale de la Recherche (ANR) as part of the "Investment for the Future" program: Institut Hospitalo-Universitaire Imagine (ANR-10-IAHU-01), Recherche Hospitalo-Universitaire (ANR-18-RHUS-0010); The Centre de Référence Déficits Immunitaires Héréditaires (CEREDIH); The Fondation pour la Recherche Médicale (FRM: EQU202103012670, FDM202006011291); French and European grants managed by the ANR: ANR-14-CE14-0026 (Lumugène), ANR-21-CE17-0064 (SOCSIMMUNITY); The National Reference Center for Rheumatic, Autoimmune and Systemic Diseases in Children (RAISE).

Ask AI
Helpful
Bookmark
Share
View Full Paper

Cite This Study

Tusseau et al. (2026) studied this question.

synapsesocial.com/papers/69d1fb20a79560c99a0a1990https://doi.org/10.1016/j.ebiom.2026.106209
Ask AI
Helpful
Bookmark
Share
View Full Paper