Sylvie Nguyen

Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly

Karine Poirier, Nicolas Lebrun, Loïc Broix et al. · Nature Genetics · 2013 · 498 citations

Life Sciences, Genetics, Neuroscience +12

Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

Diana Rodriguez, Fernande Gauthier, Enrico Bertini et al. · The American Journal of Human Genetics · 2001 · 150 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

Quantitative Neuroanatomical Phenotyping of the Embryonic Mouse Brain

Sylvie Nguyen, Meghna Kannan, Marion Gaborit et al. · Current Protocols · 2022 · 24 citations · Full text

Medicine, Neurobiology, Neuroscience +17

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

Quentin Thomas, Thierry Gautier, Dana Marafi et al. · Genetics in Medicine · 2021 · 17 citations · Full text

Medicine, Developmental Biology, Molecular Genetics +16