| A WNT4 Mutation Associated with Müllerian-Duct Regression and Virilization in a 46,XX Woman A Biason-Lauber, D Konrad, F Navratil, EJ Schoenle New England Journal of Medicine 351 (8), 792-798, 2004 | 494 | 2004 |
| Apparently normal ovarian differentiation in a prepubertal girl with transcriptionally inactive steroidogenic factor 1 (NR5A1/SF-1) and adrenocortical insufficiency A Biason-Lauber, EJ Schoenle The American Journal of Human Genetics 67 (6), 1563-1568, 2000 | 275 | 2000 |
| Why boys will be boys: two pathways of fetal testicular androgen biosynthesis are needed for male sexual differentiation CE Flück, M Meyer-Böni, AV Pandey, P Kempná, WL Miller, EJ Schoenle, ... The American Journal of Human Genetics 89 (2), 201-218, 2011 | 261 | 2011 |
| Ovaries and female phenotype in a girl with 46, XY karyotype and mutations in the CBX2 gene A Biason-Lauber, D Konrad, M Meyer, C DeBeaufort, EJ Schoenle The American Journal of Human Genetics 84 (5), 658-663, 2009 | 222 | 2009 |
| Identification and functional analysis of a new WNT4 gene mutation among 28 adolescent girls with primary amenorrhea and mullerian duct abnormalities: a French collaborative study P Philibert, A Biason-Lauber, R Rouzier, C Pienkowski, F Paris, D Konrad, ... The Journal of Clinical Endocrinology & Metabolism 93 (3), 895-900, 2008 | 220 | 2008 |
| WNT4 deficiency—a clinical phenotype distinct from the classic Mayer–Rokitansky–Kuster–Hauser syndrome: a case report A Biason-Lauber, G De Filippo, D Konrad, G Scarano, A Nazzaro, ... Human reproduction 22 (1), 224-229, 2007 | 219 | 2007 |
| Mayer–Rokitansky–Kuster–Hauser syndrome: recent clinical and genetic findings C Sultan, A Biason-Lauber, P Philibert Gynecological Endocrinology 25 (1), 8-11, 2009 | 203 | 2009 |
| Control of sex development A Biason-Lauber Best practice & research Clinical endocrinology & metabolism 24 (2), 163-186, 2010 | 200 | 2010 |
| The diabetes-linked transcription factor PAX4 promotes β-cell proliferation and survival in rat and human islets T Brun, I Franklin, L St-Onge, A Biason-Lauber, EJ Schoenle, ... The Journal of cell biology 167 (6), 1123, 2004 | 193 | 2004 |
| Effect of leptin on CYP17 enzymatic activities in human adrenal cells: new insight in the onset of adrenarche A Biason-Lauber, M Zachmann, EJ Schoenle Endocrinology 141 (4), 1446-1454, 2000 | 145 | 2000 |
| Identification of a SIRT1 mutation in a family with type 1 diabetes A Biason-Lauber, M Böni-Schnetzler, BP Hubbard, K Bouzakri, A Brunner, ... Cell metabolism 17 (3), 448-455, 2013 | 134 | 2013 |
| Epidemiology of type I diabetes mellitus in Switzerland: steep rise in incidence in under 5 year old children in the past decade EJ Schoenle, M Lang-Muritano, S Gschwend, J Laimbacher, PE Mullis, ... Diabetologia 44, 286-289, 2001 | 132 | 2001 |
| Molecular analysis of WNT4 gene in four adolescent girls with mullerian duct abnormality and hyperandrogenism (atypical Mayer-Rokitansky-Küster-Hauser syndrome) P Philibert, A Biason-Lauber, I Gueorguieva, C Stuckens, C Pienkowski, ... Fertility and sterility 95 (8), 2683-2686, 2011 | 112 | 2011 |
| Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency GG Lavery, EA Walker, A Tiganescu, JP Ride, CHL Shackleton, ... The Journal of Clinical Endocrinology & Metabolism 93 (10), 3827-3832, 2008 | 106 | 2008 |
| WNT4, RSPO1, and FOXL2 in sex development A Biason-Lauber Seminars in reproductive medicine 30 (05), 387-395, 2012 | 89 | 2012 |
| Association of childhood type 1 diabetes mellitus with a variant of PAX4: possible link to beta cell regenerative capacity A Biason-Lauber, B Boehm, M Lang-Muritano, BR Gauthier, T Brun, ... Diabetologia 48, 900-905, 2005 | 85 | 2005 |
| Loss of kinase activity in a patient with Wolcott-Rallison syndrome caused by a novel mutation in the EIF2AK3 gene A Biason-Lauber, M Lang-Muritano, T Vaccaro, EJ Schoenle Diabetes 51 (7), 2301-2305, 2002 | 83 | 2002 |
| A single amino acid substitution in the putative redox partner-binding site of P450c17 as cause of isolated 17, 20-lyase deficiency A Biason-Lauber, E Leiberman, M Zachmann The Journal of Clinical Endocrinology & Metabolism 82 (11), 3807-3812, 1997 | 81 | 1997 |
| High reliability of neonatal screening for congenital adrenal hyperplasia in Switzerland M Steigert, EJ Schoenle, A Biason-Lauber, T Torresani The Journal of Clinical Endocrinology & Metabolism 87 (9), 4106-4110, 2002 | 80 | 2002 |
| WNT4 and sex development A Biason-Lauber, D Konrad Sexual Development 2 (4-5), 210-218, 2008 | 76 | 2008 |
