Radhakrishna, Uppala

Top Publications

Top Publications Authored or Co-Authored by "Radhakrishna, Uppala"

• Mutations in GJB6 cause hidrotic ectodermal dysplasia

  Nature Genetics, Volume 26, No. 2, Year 2000, Citations 253
• 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
• Duplications of BHLHA9 are associated with ectrodactyly and tibia hemimelia inherited in non-Mendelian fashion

  Journal of Medical Genetics, Volume 49, No. 2, Year 2012, Citations 82
• Molecular and clinical characteristics in 46 families affected with Peutz-Jeghers syndrome

  Digestive Diseases and Sciences, Volume 52, No. 8, Year 2007, Citations 60
• Haplotypes, mutations and male fertility: The story of the testis-specific ubiquitin protease USP26

  Molecular Human Reproduction, Volume 12, No. 10, Year 2006, Citations 45