| Porphyrias H Puy, L Gouya, JC Deybach The Lancet 375 (9718), 924-937, 2010 | 867 | 2010 |
| The incidence of inherited porphyrias in Europe G Elder, P Harper, M Badminton, S Sandberg, JC Deybach Journal of inherited metabolic disease 36, 849-857, 2013 | 320 | 2013 |
| C-terminal deletions in the ALAS2 gene lead to gain of function and cause X-linked dominant protoporphyria without anemia or iron overload SD Whatley, S Ducamp, L Gouya, B Grandchamp, C Beaumont, ... The American Journal of Human Genetics 83 (3), 408-414, 2008 | 307 | 2008 |
| The penetrance of dominant erythropoietic protoporphyria is modulated by expression of wildtype FECH L Gouya, H Puy, AM Robreau, M Bourgeois, J Lamoril, V Da Silva, ... Nature genetics 30 (1), 27-28, 2002 | 303 | 2002 |
| Erythropoietic protoporphyria M Lecha, H Puy, JC Deybach Orphanet journal of rare diseases 4, 1-10, 2009 | 254 | 2009 |
| Afamelanotide for erythropoietic protoporphyria JG Langendonk, M Balwani, KE Anderson, HL Bonkovsky, AV Anstey, ... New England Journal of Medicine 373 (1), 48-59, 2015 | 252 | 2015 |
| Contribution of a common single-nucleotide polymorphism to the genetic predisposition for erythropoietic protoporphyria L Gouya, C Martin-Schmitt, AM Robreau, F Austerlitz, V Da Silva, P Brun, ... The American Journal of Human Genetics 78 (1), 2-14, 2006 | 201 | 2006 |
| Molecular epidemiology and diagnosis of PBG deaminase gene defects in acute intermittent porphyria H Puy, JC Deybach, J Lamoril, AM Robreau, V Da Silva, L Gouya, ... The American Journal of Human Genetics 60 (6), 1373-1383, 1997 | 179 | 1997 |
| The 3′ region of the DRD2 gene is involved in genetic susceptibility to schizophrenia C Dubertret, L Gouya, N Hanoun, JC Deybach, J Adès, M Hamon, ... Schizophrenia research 67 (1), 75-85, 2004 | 176 | 2004 |
| ABCB6 is dispensable for erythropoiesis and specifies the new blood group system Langereis V Helias, C Saison, BA Ballif, T Peyrard, J Takahashi, H Takahashi, ... Nature genetics 44 (2), 170-173, 2012 | 168 | 2012 |
| Hepatocellular carcinoma in patients with acute hepatic porphyria: frequency of occurrence and related factors C Andant, H Puy, C Bogard, J Faivre, JC Soulé, Y Nordmann, ... Journal of hepatology 32 (6), 933-939, 2000 | 168 | 2000 |
| Inheritance in erythropoietic protoporphyria: a common wild-type ferrochelatase allelic variant with low expression accounts for clinical manifestation L Gouya, H Puy, J Lamoril, V Da Silva, B Grandchamp, Y Nordmann, ... Blood, The Journal of the American Society of Hematology 93 (6), 2105-2110, 1999 | 167 | 1999 |
| Porphyrias: a 2015 update Z Karim, S Lyoumi, G Nicolas, JC Deybach, L Gouya, H Puy Clinics and research in hepatology and gastroenterology 39 (4), 412-425, 2015 | 166 | 2015 |
| The inherited enzymatic defect in porphyria variegata JC Deybach, H De Verneuil, Y Nordmann Human Genetics 58, 425-428, 1981 | 153 | 1981 |
| Acute intermittent porphyria: prevalence of mutations in the porphobilinogen deaminase gene in blood donors in France Y Nordmann, H Puy, V Da Silva, S Simonin, AM Robreau, C Bonaiti, ... Journal of internal medicine 242 (3), 213-217, 1997 | 146 | 1997 |
| A point mutation G—A in exon 12 of the porphoblllnogen deaminase gene results in exon skipping and is responsible for acute intermittent porphyria B Grandchamp, C Picat, F De Rooij, C Beaumont, P Wilson, JC Deybach, ... Nucleic acids research 17 (16), 6637-6649, 1989 | 146 | 1989 |
| EXPLORE: a prospective, multinational, natural history study of patients with acute hepatic porphyria with recurrent attacks L Gouya, P Ventura, M Balwani, DM Bissell, DC Rees, U Stölzel, ... Hepatology 71 (5), 1546-1558, 2020 | 141 | 2020 |
| Erythropoietic protoporphyria in the house mouse. A recessive inherited ferrochelatase deficiency with anemia, photosensitivity, and liver disease. S Tutois, X Montagutelli, V Da Silva, H Jouault, P Rouyer-Fessard, ... The Journal of clinical investigation 88 (5), 1730-1736, 1991 | 139 | 1991 |
| Systematic analysis of molecular defects in the ferrochelatase gene from patients with erythropoietic protoporphyria UB Rüfenacht, L Gouya, X Schneider-Yin, H Puy, BW Schäfer, R Aquaron, ... The American Journal of Human Genetics 62 (6), 1341-1352, 1998 | 138 | 1998 |
| Human erythropoietic protoporphyria: two point mutations in the ferrochelatase gene J Lamoril, S Boulechfar, H de Verneuil, B Grandchamp, Y Nordmann, ... Biochemical and biophysical research communications 181 (2), 594-599, 1991 | 135 | 1991 |
