Sylvie Nguyen

Cohen Syndrome-Associated Cataract Is Explained by VPS13B Functions in Lens Homeostasis and Is Modified by Additional Genetic Factors

S. Picaud, C. Thauvin-Robinet, E. Dubus, 2020, Investigative ophthalmology & visual science.

Haploinsufficiency of ARFGEF1 is associated with developmental delay, intellectual disability, and epilepsy with variable expressivity

Jill A. Madden, J. Lupski, R. Tenconi, 2021, Genetics in Medicine.

Quantitative Neuroanatomical Phenotyping of the Embryonic Mouse Brain

B. Yalcin, Marion Gaborit, Sylvie Nguyen, 2022, Current protocols.

Characterization of Vps13b-mutant mice reveals neuroanatomical and behavioral phenotypes with females less affected

B. Yalcin, L. Faivre, C. Thauvin-Robinet, 2023, Neurobiology of Disease.

Pneumococcal pneumonia and endotoxemia: An experimental and clinical reappraisal

J. Quenot, P. Charles, C. Binquet, 2023, European journal of clinical investigation.