Human Male Infertility Associated with Mutations in NR5A1 Encoding Steroidogenic Factor 1Anu Bashamboo, Ken McElreavey, Bruno Ferraz‐de‐Souza et al.|The American Journal of Human Genetics|2010Cited by 247
Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX ChildrenAnu Bashamboo, Ken McElreavey, Anne Jørgensen et al.|The American Journal of Human Genetics|2018Cited by 104
Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomaliesMarie‐France Portnoï, Anu Bashamboo, Marie-Charlotte Dumargne et al.|Human Molecular Genetics|2018Cited by 86
Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndromeKen McElreavey, Anu Bashamboo, Anne Jørgensen et al.|Genetics in Medicine|2019Cited by 69
Polymorphisms in DLGH1 and LAMC1 in Mayer–Rokitansky–Kuster–Hauser syndromeCélia Ravel, Émile Daraï, Anu Bashamboo et al.|Reproductive BioMedicine Online|2012Cited by 18