Sylvie Simonin

Contribution of a Common Single-Nucleotide Polymorphism to the Genetic Predisposition for Erythropoietic Protoporphyria

Laurent Gouya, Caroline Schmitt, Anne-Marie Robréau et al. · The American Journal of Human Genetics · 2005 · 186 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France

Y Nordmann, Hervé Puy, V. Da Silva et al. · Journal of Internal Medicine · 1997 · 128 citations · Full text

Life Sciences, Genetics, Molecular Genetics +10

From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyria

Hugo Lenglet, Caroline Schmitt, Thomas Grange et al. · Human Molecular Genetics · 2018 · 103 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Variegate porphyria: diagnostic value of fluorometric scanning of plasma porphyrins

V. Da Silva, Sylvie Simonin, Jean‐Charles Deybach et al. · Clinica Chimica Acta · 1995 · 58 citations

Life Sciences, Biochemistry, Phycology +3

Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria

Arienne Mirmiran, Caroline Schmitt, Thibaud Lefèbvre et al. · The American Journal of Human Genetics · 2019 · 27 citations · Full text

Life Sciences, Cell Biology, Molecular Biology +9