Happle, Rudolph

Top Publications

Top Publications Authored or Co-Authored by "Happle, Rudolph"

• Proteus syndrome: Diagnostic criteria, differential diagnosis, and patient evaluation

  American Journal of Medical Genetics, Volume 84, No. 5, Year 1999, Citations 407
• IFAP Syndrome Is Caused by Deficiency in MBTPS2, an Intramembrane Zinc Metalloprotease Essential for Cholesterol Homeostasis and ER Stress Response

  American Journal of Human Genetics, Volume 84, No. 4, Year 2009, Citations 130
• Multiple familial trichoepithelioma caused by mutations in the cylindromatosis tumor suppressor gene

  Cancer Research, Volume 64, No. 15, Year 2004, Citations 76
• Genotype-Phenotype Correlations Emerging from the Identification of Missense Mutations in MBTPS2

  Human Mutation, Volume 34, No. 4, Year 2013, Citations 39
• Congenital ichthyosis, follicular atrophoderma, hypotrichosis, and hypohidrosis: A new genodermatosis?

  American Journal of Medical Genetics, Volume 75, No. 2, Year 1998, Citations 23