Leila Qebibo

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

D. Horn, C. Garel, V. Narayanan, 2023, eLife.

New insights into CC2D2A-related Joubert syndrome

F. Rivier, C. Garel, A. Afenjar, 2022, Journal of Medical Genetics.

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

A. Leutenegger, S. Mazoyer, R. Bordonné, 2023, Proceedings of the National Academy of Sciences of the United States of America.

Biallelic variants in HECT E3 paralogs, HECTD4 and UBE3C, encoding ubiquitin ligases cause neurodevelopmental disorders that overlap with Angelman syndrome.

J. Lupski, Tadahiro Mitani, D. Calame, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

Endocannabinoid dysfunction in neurological disease: neuro-ocular DAGLA-related syndrome

M. Bainbridge, I. Thiffault, A. Torkamani, 2022, Brain : a journal of neurology.

VPS4A mutation in syndromic congenital hemolytic anemia without obvious signs of dyserythropoiesis

C. Garel, B. Funalot, F. Galactéros, 2021, American journal of hematology.