Achermann, John C.

Top Publications

Top Publications Authored or Co-Authored by "Achermann, John C."

• Human male infertility associated with mutations in NR5A1 encoding steroidogenic factor 1

  American Journal of Human Genetics, Volume 87, No. 4, Year 2010, Citations 224
• The spectrum of phenotypes associated with mutations in steroidogenic factor 1 (SF-1, NR5A1, Ad4BP) includes severe penoscrotal hypospadias in 46,XY males without adrenal insufficiency

  European Journal of Endocrinology, Volume 161, No. 2, Year 2009, Citations 116
• Mutations involving the SRY-related gene SOX8 are associated with a spectrum of human reproductive anomalies

  Human Molecular Genetics, Volume 27, No. 7, Year 2018, Citations 59
• Pathogenic variants in the DEAH-box RNA helicase DHX37 are a frequent cause of 46,XY gonadal dysgenesis and 46,XY testicular regression syndrome

  Genetics in Medicine, Volume 22, No. 1, Year 2020, Citations 31
• Long-term outcome of partial P450 side-chain cleavage enzyme deficiency in three brothers: The importance of early diagnosis

  European Journal of Endocrinology, Volume 182, No. 3, Year 2020, Citations 11