Identification of Novel Genetic Risk Variants Associated with Hidradenitis Suppurativa in an Exome Sequencing Cohort of 92,455 Individuals
Using longitudinal EHR data, genomic screening identified HS-associated gene variants in a defined group of sporadic HS patients to augment the clinical diagnosis, particularly in cases of ambiguity. Based on this study, the field of skin disorders can benefit from a personalized approach to HS diagnosis using large-scale sequencing.
Authors
- Uppala Radhakrishna (ORCID: https://orcid.org/0000-0002-6617-5634)
- Jeffrey Staples (ORCID: https://orcid.org/0000-0002-9132-235X)
- Sangeetha Vishweswaraiah
- Raghu Metpally
- Falk G. Bechara (ORCID: https://orcid.org/0000-0003-0418-521X)
- Nazia Saiyed
- David J. Carey (ORCID: https://orcid.org/0000-0001-6404-1950)
- Claudia Gonzaga‐Jauregui (ORCID: https://orcid.org/0000-0002-4667-3679)
- A. N. Denisenko (ORCID: https://orcid.org/0000-0002-6877-4382)
- Gregor B. E. Jemec (ORCID: https://orcid.org/0000-0002-0712-2540)
- Heinric Williams
- Sarathbabu Krishnamurthy
- Richard C. Stahl
- Alicia Golden
Institutions
- University of Copenhagen (DK)
- University of Pittsburgh (US)
- Zealand University Hospital (DK)
Publication Details
- Journal
- Dermatology
- Published
- 2024-10-11
- DOI
- https://doi.org/10.1159/000540359
- Citations
- 2
- Primary Topic
- Hidradenitis Suppurativa and Treatments
- Type
- article
- Field-Weighted Citation Impact
- 1.07