Loss of Function of the Nuclear Receptor NR2F2, Encoding COUP-TF2, Causes Testis Development and Cardiac Defects in 46,XX ChildrenAnu Bashamboo, Ken McElreavey, J. Sólyom 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
Mutations 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.|58th Annual ESPE Meeting (ESPE 2019)|2019Cited by 0