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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. Diseases associated with hidranitis suppurativa: part 2 of a series on hidradenitis Dermatology Online Journal · 2013 · 78 citations
    3. Pleiotropic Role of Notch Signaling in Human Skin Diseases International Journal of Molecular Sciences · 2020 · 29 citations
    4. Zebrafish Model of Hereditary Pigmentary Disorders International Journal of Dermatology and Venereology · 2019 · 1 citations
    5. Generalized Asymptomatic Cutaneous Pits and Comedones in a Young Woman Indian Journal of Dermatology · 2024
    6. Does Nicastrin Inadequacy Cause Melanocytotoxicity in Human Skin as in the Fish Counterpart? 2021
    7. Parkinson's disease and skin 2021 · 28 citations
    8. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    9. What does acne genetics teach us about disease pathogenesis? British Journal of Dermatology · 2019 · 29 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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