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Blood|June 10, 2011
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyriaJordi To-Figueras, Sarah Ducamp, Jerome Clayton, 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.American Journal of Human Genetics|April 1, 2014
Antisense oligonucleotide-based therapy in human erythropoietic protoporphyriaVincent Oustric, Hana Manceau, Sarah Ducamp, et al.Science Advances|January 31, 2024
Folate depletion induces erythroid differentiation through perturbation of de novo purine synthesisAdam G Maynard, Nancy K Pohl, Annabel P Mueller, et al.Proceedings of the National Academy of Sciences of the United States of America|September 7, 2017
Mutation in human CLPX elevates levels of δ-aminolevulinate synthase and protoporphyrin IX to promote erythropoietic protoporphyriaYvette Y Yien, Sarah Ducamp, Lisa N van der Vorm, et al.The Journal of Clinical Investigation|July 8, 2020
Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemiaAndrew Crispin, Chaoshe Guo, Caiyong Chen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|September 3, 2020
Evidence in the UK Biobank for the underdiagnosis of erythropoietic protoporphyriaAmy K Dickey, Corbin Quick, Sarah Ducamp, 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.Haematologica|October 15, 2020
XPO1 regulates erythroid differentiation and is a new target for the treatment of β-thalassemiaFlavia Guillem, Michaël Dussiot, Elia Colin, et al.Pageof 3