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    1. Whole-genome SNP genotyping mapped a novel locus for hereditary hypotrichosis on chromosome 2q31.1–q32.2 Journal of Dermatological Science · 2015
    2. Unveiling the Roots of Monogenic Genodermatoses: Genotrichoses as a Paradigm Journal of Investigative Dermatology · 2011 · 26 citations
    3. EMQN best practice guidelines for molecular genetic testing and reporting of 21-hydroxylase deficiency European Journal of Human Genetics · 2020 · 94 citations
    4. Skin barrier, phenotypic and genotypic characterisation of autosomal recessive ichthyosis in TGM1‐deficient Jack Russell Terriers and response to topical ceramide Veterinary Dermatology · 2024
    5. Forensic DNA phenotyping: a review on SNP panels, genotyping techniques, and prediction models Forensic Sciences Research · 2024 · 4 citations
    6. A novel mutation in ST14 at a functionally significant amino acid residue expands the spectrum of ichthyosis-hypotrichosis syndrome Orphanet Journal of Rare Diseases · 2017 · 11 citations
    7. Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing bioRxiv (Cold Spring Harbor Laboratory) · 2022 · 1 citations
    8. Cost-effectively dissecting the genetic architecture of complex wool traits in rabbits by low-coverage sequencing Genetics selection evolution · 2022 · 5 citations
    9. Role of the Wnt signaling pathway in keratoacanthoma Cancer reports · 2019 · 2 citations
    10. APCDD1 is a novel Wnt inhibitor mutated in hereditary hypotrichosis simplex Nature · 2010 · 199 citations
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