Next Generation Sequencing Identifies Five Novel Mutations in Lebanese Patients with Bardet-Biedl and Usher Syndromes.
Lama JaffalWissam H JoumaaAlexandre AssiCharles HelouGeorge CherfanKazem ZibaraIsabelle AudoChristina ZeitzSaid El ShamiehPublished in: Genes (2019)
This study expanded the mutational spectrum and showed the genetic diversity of BBS and USH. It also spotlighted the efficiency of NGS techniques in revealing mutations underlying clinically and genetically heterogeneous disorders.