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American Journal of Human Genetics|February 5, 2019
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic ProtoporphyriaArienne Mirmiran, Caroline Schmitt, Thibaud Lefebvre, et al.Human Molecular Genetics|December 25, 2012
Molecular and functional analysis of the C-terminal region of human erythroid-specific 5-aminolevulinic synthase associated with X-linked dominant protoporphyria (XLDPP)Sarah Ducamp, Xiaoye Schneider-Yin, Felix de Rooij, et al.Human Molecular Genetics|January 24, 2018
From a dominant to an oligogenic model of inheritance with environmental modifiers in acute intermittent porphyriaHugo Lenglet, Caroline Schmitt, Thomas Grange, et al.Nature Genetics|January 17, 2012
ABCB6 is dispensable for erythropoiesis and specifies the new blood group system LangereisVirginie Helias, Carole Saison, Bryan A Ballif, et al.American Journal of Human Genetics|April 1, 2014
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyriaVincent Oustric, Hana Manceau, Sarah Ducamp, et al.Blood|November 22, 2014
Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasitesClare M Smith, Ante Jerkovic, Hervé Puy, et al.Liver International : Official Journal of the International Association for the Study of the Liver|April 17, 2026
Clinical Characteristics and Outcomes of Acute Intermittent Porphyria: Insights From the European Porphyria RegistryCarl M Baravelli, Sverre Sandberg, Marte H Hammersland, et al.Human Mutation|February 11, 2011
Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutationsSarah Ducamp, Caroline Kannengiesser, Mohamed Touati, et al.American Journal of Human Genetics|September 2, 2008
C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overloadSharon D Whatley, Sarah Ducamp, Laurent Gouya, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|May 11, 2019
International Porphyria Molecular Diagnostic Collaborative: an evidence-based database of verified pathogenic and benign variants for the porphyriasBrenden Chen, Sharon Whatley, Michael Badminton, et al.Pageof 6