Laurent Gouya

Phase 3 Trial of RNAi Therapeutic Givosiran for Acute Intermittent Porphyria

Manisha Balwani, Eliane Sardh, Paolo Ventura et al. · New England Journal of Medicine · 2020 · 562 citations · Full text

TGFB2 mutations cause familial thoracic aortic aneurysms and dissections associated with mild systemic features of Marfan syndrome

Cathérine Boileau, Dong Guo, Nadine Hanna et al. · Nature Genetics · 2012 · 373 citations · Full text

Marfan Syndrome, Tgfb2 Mutations, Pathology +7

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 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