Betz, Regina Christine

Top Publications

Top Publications Authored or Co-Authored by "Betz, Regina Christine"

• 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
• Mutational spectrum of the oral-facial-digital type I syndrome: A study on a large collection of patients

  Human Mutation, Volume 29, No. 10, Year 2008, Citations 100
• The Alopecia Areata Consensus of Experts (ACE) study: Results of an international expert opinion on treatments for alopecia areata

  Journal of the American Academy of Dermatology, Volume 83, No. 1, Year 2020, Citations 95
• Variant PADI3 in central centrifugal cicatricial alopecia

  New England Journal of Medicine, Volume 380, No. 9, Year 2019, Citations 85
• A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

  American Journal of Medical Genetics, Part A, Volume 167, No. 3, Year 2015, Citations 70