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    1. Germline Mutation in ATR in Autosomal- Dominant Oropharyngeal Cancer Syndrome The American Journal of Human Genetics · 2012 · 71 citations
    2. PTCH1 Germline Mutations and the Basaloid Follicular Hamartoma Values in the Tumor Spectrum of Basal Cell Carcinoma Syndrome (NBCCS) Anticancer Research · 2018 · 21 citations
    3. PA11 A rare case of a severe papulopustular dermatosis secondary to a germline <i>EGFR</i> mutation British Journal of Dermatology · 2026
    4. Identification of somatic and germline mosaicism for a keratin 5 mutation in epidermolysis bullosa simplex in a family of which the proband was previously regarded as a sporadic case Clinical Genetics · 2004 · 26 citations
    5. Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience Frontiers in Oncology · 2023 · 1 citations
    6. Androgen Receptor Mutations and Polymorphisms in African American Prostate Cancer International Journal of Biological Sciences · 2014 · 23 citations
    7. 42761 The elusive BAP1 mutation in pediatric melanocytic tumors Journal of the American Academy of Dermatology · 2023
    8. <i>De novo</i> mutations in monilethrix Experimental Dermatology · 2003 · 26 citations
    9. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation 2019 · 21 citations
    10. GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts 2021
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