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 · 592 citations · Full text

Medicine, Pharmacology, Pharmacotherapy +14

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 · 379 citations

Medicine, Genetics, Molecular Genetics +14

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 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

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 · 264 citations

Life Sciences, Biology, Genetics +2

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