Qebibo, Leila

Top Publications

Top Publications Authored or Co-Authored by "Qebibo, Leila"

• MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

  Annals of Neurology, Volume 89, No. 4, Year 2021, Citations 45
• Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome

  Genetics in Medicine, Volume 25, No. 2, Article 100323, Year 2023, Citations 37
• GGPS1 Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

  Annals of Neurology, Volume 88, No. 2, Year 2020, Citations 34
• Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

  Frontiers in Physiology, Volume 14, Article 1130175, Year 2023, Citations 23