Jean‐Charles Deybach

C-Terminal Deletions in the ALAS2 Gene Lead to Gain of Function and Cause X-linked Dominant Protoporphyria without Anemia or Iron Overload

Sharon D. Whatley, Sarah Ducamp, Laurent Gouya et al. · The American Journal of Human Genetics · 2008 · 289 citations · Full text

Biology, Medicine, Genetics +11

The incidence of inherited porphyrias in Europe

George H. Elder, Pauline Harper, Michael N. Badminton et al. · Journal of Inherited Metabolic Disease · 2012 · 287 citations

Afamelanotide for Erythropoietic Protoporphyria

Janneke G. Langendonk, Manisha Balwani, Karl E. Anderson et al. · New England Journal of Medicine · 2015 · 268 citations · Full text

The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH

Laurent Gouya, Hervé Puy, Anne-Marie Robréau et al. · Nature Genetics · 2001 · 260 citations

Biology, Dominant Erythropoietic Protoporphyria, Genetics +3

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 · 181 citations · Full text

Biology, Genetic Analysis, Allelic Variant +12