| Consensus statement on management of intersex disorders. LPA Hughes IA, Houk C, Ahmed SF, LC Group., EC Group. Arch Dis Child 91 (7), 554-563, 2006 | 2163* | 2006 |
| Consensus statement on management of intersex disorders PA Lee, CP Houk, SF Ahmed, IA Hughes, ... Pediatrics 118 (2), e488-e500, 2006 | 1403 | 2006 |
| A mutation in the gene encoding steroidogenic factor-1 causes XY sex reversal and adrenal failure in humans JC Achermann, M Ito, M Ito, PC Hindmarsh, JL Jameson Nature genetics 22 (2), 125-126, 1999 | 807 | 1999 |
| Mutations in NR5A1 Associated with Ovarian Insufficiency D Lourenço, R Brauner, L Lin, A De Perdigo, G Weryha, M Muresan, ... New England Journal of Medicine 360 (12), 1200-1210, 2009 | 438 | 2009 |
| Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans D Kelberman, K Rizzoti, A Avilion, M Bitner-Glindzicz, S Cianfarani, ... The Journal of clinical investigation 116 (9), 2442-2455, 2006 | 410 | 2006 |
| Two novel missense mutations in g protein-coupled receptor 54 in a patient with hypogonadotropic hypogonadism RK Semple, JC Achermann, J Ellery, IS Farooqi, FE Karet, RG Stanhope, ... The Journal of Clinical Endocrinology & Metabolism 90 (3), 1849-1855, 2005 | 354 | 2005 |
| Gonadal determination and adrenal development are regulated by the orphan nuclear receptor steroidogenic factor-1, in a dose-dependent manner JC Achermann, G Ozisik, M Ito, UA Orun, K Harmanci, B Gurakan, ... The Journal of Clinical Endocrinology & Metabolism 87 (4), 1829-1833, 2002 | 338 | 2002 |
| Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1 A Bashamboo, B Ferraz-de-Souza, D Lourenço, L Lin, NJ Sebire, ... The American Journal of Human Genetics 87 (4), 505-512, 2010 | 266 | 2010 |
| Steroidogenic Factor-1 (SF-1, Ad4BP, NR5A1) and Disorders of Testis Development L Lin, JC Achermann Sexual Development 2 (4-5), 200-209, 2008 | 247 | 2008 |
| Society for Endocrinology UK guidance on the initial evaluation of an infant or an adolescent with a suspected disorder of sex development (Revised 2015) SF Ahmed, JC Achermann, W Arlt, A Balen, G Conway, Z Edwards, ... Clinical endocrinology 84 (5), 771-788, 2016 | 246 | 2016 |
| Heterozygous Missense Mutations in Steroidogenic Factor 1 (SF1/Ad4BP, NR5A1) Are Associated with 46,XY Disorders of Sex Development with Normal Adrenal … L Lin, P Philibert, B Ferraz-de-Souza, D Kelberman, T Homfray, ... The Journal of Clinical Endocrinology & Metabolism 92 (3), 991-999, 2007 | 230 | 2007 |
| Analysis of DAX1 (NR0B1) and Steroidogenic Factor-1 (NR5A1) in Children and Adults with Primary Adrenal Failure: Ten Years’ Experience L Lin, WX Gu, G Ozisik, WS To, CJ Owen, JL Jameson, JC Achermann The Journal of Clinical Endocrinology & Metabolism 91 (8), 3048-3054, 2006 | 228 | 2006 |
| DAX-1 (NR0B1) and steroidogenic factor-1 (SF-1, NR5A1) in human disease JP Suntharalingham, F Buonocore, AJ Duncan, JC Achermann Best practice & research Clinical endocrinology & metabolism 29 (4), 607-619, 2015 | 220 | 2015 |
| X-Linked Adrenal Hypoplasia Congenita: A Mutation in DAX1Expands the Phenotypic Spectrum in Males and Females SB Seminara, JC Achermann, M Genel, JL Jameson, WF Crowley Jr The Journal of Clinical Endocrinology & Metabolism 84 (12), 4501-4509, 1999 | 217 | 1999 |
| Clinical and Functional Effects of Mutations in the DAX-1 Gene in Patients with Adrenal Hypoplasia Congenita AT Reutens, JC Achermann, M Ito, M Ito, WX Gu, RL Habiby, ... The Journal of Clinical Endocrinology & Metabolism 84 (2), 504-511, 1999 | 211 | 1999 |
| A novel mutation in DAX1 causes delayed-onset adrenal insufficiency and incomplete hypogonadotropic hypogonadism A Tabarin, JC Achermann, D Recan, V Bex, X Bertagna, S Christin-Maitre, ... The Journal of clinical investigation 105 (3), 321-328, 2000 | 210 | 2000 |
| Summary of consensus statement on intersex disorders and their management CP Houk, IA Hughes, SF Ahmed, PA Lee, ... Pediatrics 118 (2), 753-757, 2006 | 209 | 2006 |
| Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome VA Arboleda, H Lee, R Parnaik, A Fleming, A Banerjee, ... Nature genetics 44 (7), 788-792, 2012 | 202 | 2012 |
| SOX2 Plays a Critical Role in the Pituitary, Forebrain, and Eye during Human Embryonic Development D Kelberman, SCP De Castro, S Huang, JA Crolla, R Palmer, JW Gregory, ... The Journal of Clinical Endocrinology & Metabolism 93 (5), 1865-1873, 2008 | 201 | 2008 |
| Steroidogenic factor-1 (SF-1, NR5A1) and human disease B Ferraz-de-Souza, L Lin, JC Achermann Molecular and cellular endocrinology 336 (1-2), 198-205, 2011 | 198 | 2011 |
