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    Research 10 of 612

    1. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    2. Challenges associated with the identification of germline variants on myeloid malignancy genomic profiling—a Singaporean experience Frontiers in Oncology · 2023 · 1 citations
    3. CPC12 Coinheritance of <i>BRCA2</i> and <i>CYLD</i> germline pathogenic variants associated with targetable metastatic malignant cylindroma British Journal of Dermatology · 2023
    4. A Monoallelic Two-Hit Mechanism in PLCD1 Explains the Genetic Pathogenesis of Hereditary Trichilemmal Cyst Formation 2019 · 21 citations
    5. GWAS Identifies Three Susceptibility Loci for Trichilemmal Cysts 2021
    6. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    7. GENOTYPE ? PHENOTYPE CORRELATIONS IN CUTANEOUS MELANOMA PATIENTS CARRIER OF THE MITF p.E318K PATHOGENIC VARIANT CINECA IRIS Institutial Research Information System (University of Genoa) · 2019
    8. Novel <i>RNF113A</i> Variant Underlying X‐Linked Trichothiodystrophy With Presumed Mosaicism in an Unaffected Mother American Journal of Medical Genetics Part A · 2026
    9. Bullous Congenital Ichthyosiform Erythroderma with Tinea Capitis in Half-Siblings: Rare Phenomenon in Ichthyosis with Co-Existing Trichophyton rubrum Infection and Blocker Displacement Amplification for Mosaic Mutation Detection Biomedicines · 2025
    10. Genetic variants in AR and SHBG and resistance to hormonal castration in prostate cancer Medical Oncology · 2013 · 6 citations
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