| Evolution of steroids during pregnancy: Maternal, placental and fetal synthesis Y Morel, F Roucher, I Plotton, C Goursaud, V Tardy, D Mallet Annales d'endocrinologie 77 (2), 82-89, 2016 | 134 | 2016 |
| PKA signaling drives reticularis differentiation and sexually dimorphic adrenal cortex renewal T Dumontet, I Sahut-Barnola, A Septier, N Montanier, I Plotton, ... JCI insight 3 (2), 2018 | 98 | 2018 |
| NNT mutations: a cause of primary adrenal insufficiency, oxidative stress and extra-adrenal defects F Roucher-Boulez, D Mallet-Motak, D Samara-Boustani, H Jilani, ... European journal of endocrinology 175 (1), 73-84, 2016 | 76 | 2016 |
| New NOBOX Mutations Identified in a Large Cohort of Women With Primary Ovarian Insufficiency Decrease KIT-L Expression J Bouilly, F Roucher-Boulez, A Gompel, H Bry-Gauillard, K Azibi, ... The Journal of Clinical Endocrinology & Metabolism 100 (3), 994-1001, 2015 | 66 | 2015 |
| Triple-A syndrome: a wide spectrum of adrenal dysfunction F Roucher-Boulez, A Brac de la Perriere, A Jacquez, D Chau, L Guignat, ... European journal of endocrinology 178 (3), 199-207, 2018 | 46 | 2018 |
| P450 oxidoreductase deficiency: loss of activity caused by protein instability from a novel L374H mutation S Parween, F Roucher-Boulez, CE Flück, A Lienhardt-Roussie, D Mallet, ... The Journal of Clinical Endocrinology & Metabolism 101 (12), 4789-4798, 2016 | 30 | 2016 |
| Age-and sex-specific TSH upper-limit reference intervals in the general French population: there is a need to adjust our actual practices V Raverot, M Bonjour, J Abeillon du Payrat, P Perrin, F Roucher-Boulez, ... Journal of clinical medicine 9 (3), 792, 2020 | 28 | 2020 |
| Aberrant Splicing Is the Pathogenicity Mechanism of the p.Glu314Lys Variant in CYP11A1 Gene C Goursaud, D Mallet, A Janin, R Menassa, V Tardy-Guidollet, G Russo, ... Frontiers in Endocrinology 9, 491, 2018 | 25 | 2018 |
| Successful IVF pregnancy despite inadequate ovarian steroidogenesis due to congenital lipoid adrenal hyperplasia (CLAH): a case report F Albarel, J Perrin, M Jegaden, F Roucher-Boulez, R Reynaud, T Brue, ... Human Reproduction 31 (11), 2609-2612, 2016 | 24 | 2016 |
| Comparison of two next-generation sequencing kits for diagnosis of epileptic disorders with a user-friendly tool for displaying gene coverage, DeCovA S Dimassi, T Simonet, A Labalme, N Boutry-Kryza, A Campan-Fournier, ... Applied & Translational Genomics 7, 19-25, 2015 | 24 | 2015 |
| Genetic of gonadal determination Y Morel, F Roucher, D Mallet, I Plotton Annales d'endocrinologie 75 (2), 32-39, 2014 | 22 | 2014 |
| Sexually dimorphic activation of innate antitumor immunity prevents adrenocortical carcinoma development JJ Wilmouth Jr, J Olabe, D Garcia-Garcia, C Lucas, R Guiton, ... Science Advances 8 (41), eadd0422, 2022 | 20 | 2022 |
| Reversion SAMD9 Mutations Modifying Phenotypic Expression of MIRAGE Syndrome and Allowing Inheritance in a Usually de novo Disorder F Roucher-Boulez, D Mallet, N Chatron, F Dijoud, DB Gorduza, ... Frontiers in endocrinology 10, 625, 2019 | 18 | 2019 |
| Isolated hypoaldosteronism as first sign of X-linked adrenal hypoplasia congenita caused by a novel mutation in NR0B1/DAX-1 gene: a case report L Iughetti, L Lucaccioni, P Bruzzi, S Ciancia, E Bigi, SF Madeo, B Predieri, ... BMC Medical Genetics 20, 1-8, 2019 | 16 | 2019 |
| News about the genetics of congenital primary adrenal insufficiency F Roucher-Boulez, D Mallet-Motak, V Tardy-Guidollet, R Menassa, ... Annales d'Endocrinologie 79 (3), 174-181, 2018 | 15 | 2018 |
| Brac de la Perriere F Roucher-Boulez A., Jacquez, A., Chau, D., Guignat, L., Vial, C., Morel, Y., Nicolino, M …, 2018 | 12 | 2018 |
| Macroprolactinaemia: a biological diagnostic strategy from the study of 222 patients L Parlant-Pinet, C Harthé, F Roucher, Y Morel, F Borson-Chazot, ... European journal of endocrinology 172 (6), 687-695, 2015 | 12 | 2015 |
| 3β-hydroxysteroid dehydrogenase deficiency Y Morel, F Roucher, I Plotton, J Simard, M Coll Genetic steroid disorders, 99-110, 2014 | 12 | 2014 |
| Hypopituitarism in patients with blepharophimosis and FOXL2 mutations S Castets, F Roucher-Boulez, A Saveanu, D Mallet-Motak, O Chabre, ... Hormone research in paediatrics 93 (1), 30-39, 2020 | 11 | 2020 |
| Genotype, mortality, morbidity, and outcomes of 3β-hydroxysteroid dehydrogenase deficiency in Algeria A Ladjouze, M Donaldson, I Plotton, N Djenane, K Mohammedi, ... Frontiers in endocrinology 13, 867073, 2022 | 10 | 2022 |
