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    1. Mutations in γ-secretase subunit–encoding PSENEN underlie Dowling-Degos disease associated with acne inversa Journal of Clinical Investigation · 2017 · 87 citations
    2. Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman Indian Journal of Dermatology · 2024
    3. Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis Dermatology Online Journal · 2013 · 78 citations
    4. Pleiotropic Role of Notch Signaling in Human Skin Diseases International Journal of Molecular Sciences · 2020 · 29 citations
    5. Update on Hidradenitis Suppurativa (Part I): Epidemiology, Pathogenesis, Severity assessment and Comorbidities Revista da Sociedade Portuguesa de Dermatologia e Venereologia · 2018 · 1 citations
    6. Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling Biomolecules · 2022 · 13 citations
    7. Acne Harper's Textbook of Pediatric Dermatology · 2011 · 2 citations
    8. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 citations
    9. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    10. Analysis of hidradenitis suppurativa–linked mutations in four genes and the effects of PSEN1-P242LfsX11 on cytokine and chemokine expression in macrophages Human Molecular Genetics · 2018 · 25 citations
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