Leila Qebibo

Amelogenesis imperfecta: Next-generation sequencing sheds light on Witkop’s classification

Agnès Bloch‐Zupan, Tristan Rey, Alexandra Jimenez-Armijo et al. · Frontiers in Physiology · 2023 · 54 citations · Full text

<scp><i>GGPS1</i></scp> Mutations Cause Muscular Dystrophy/Hearing Loss/Ovarian Insufficiency Syndrome

A. Reghan Foley, Yaqun Zou, James E. Dunford et al. · Annals of Neurology · 2020 · 38 citations · Full text

Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders

Lydie Bürglen, Evelien Van Hoeymissen, Leila Qebibo et al. · eLife · 2023 · 34 citations · Full text

<scp><i>MED27</i></scp> Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

Linyan Meng, Pirjo Isohanni, Yunru Shao et al. · Annals of Neurology · 2021 · 24 citations · Full text

Brain Development, Neurological Disorder, Genetics +17

Deficiency of the minor spliceosome component U4atac snRNA secondarily results in ciliary defects in human and zebrafish

Deepak Khatri, Audrey Putoux, Audric Cologne et al. · Proceedings of the National Academy of Sciences · 2023 · 22 citations · Full text