Functional Consequences of a<i>SDHB</i>Gene Mutation in an Apparently Sporadic PheochromocytomaAnne‐Paule Gimenez‐Roqueplo, Xavier Jeunemaı̂tre, Judith Favier et al.|The Journal of Clinical Endocrinology & Metabolism|2002Cited by 210
Risk assessment of maternally inherited <i>SDHD</i> paraganglioma and phaeochromocytomaNelly Burnichon, Anne‐Paule Gimenez‐Roqueplo, Jean‐Michaël Mazzella et al.|Journal of Medical Genetics|2016Cited by 55
Turner syndrome: French National Diagnosis and Care Protocol (NDCP; National Diagnosis and Care Protocol)Elodie Fiot, Catherine Pienkowski, Bertille Alauze et al.|Orphanet Journal of Rare Diseases|2022Cited by 46
Position statement on the diagnosis and management of premature/primary ovarian insufficiency (except Turner Syndrome)Sophie Christin‐Maître, Delphine Zénaty, Maria Givony et al.|Annales d Endocrinologie|2021Cited by 28
Whole exome sequencing in a cohort of familial premature ovarian insufficiency cases reveals a broad array of pathogenic or likely pathogenic variants in 50% of familiesAlexandre Rouen, Sophie Christin‐Maître, Eli Rogers et al.|Fertility and Sterility|2022Cited by 27