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    1. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    2. Werewolf, there wolf: variants in <i>Hairless</i> associated with hypotrichia and roaning in the lykoi cat breed bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 3 citations
    3. Independent DSG4 frameshift variants in cats with hair shaft dystrophy Molecular genetics and genomics · 2021
    4. Dissection of genetic variation and evidence for pleiotropy in male pattern baldness Nature Communications · 2018 · 58 citations
    5. Loss‐of‐function of Endothelin receptor type A results in Oro‐Oto‐Cardiac syndrome American Journal of Medical Genetics Part A · 2020 · 11 citations
    6. JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease Journal of Allergy and Clinical Immunology · 2025 · 1 citations
    7. PHOTO GALLERY. CLINICAL VARIANTS OF LICHEN PLANUS WITH LESIONS OF THE SCALP Russian Journal of Skin and Venereal Diseases · 2025
    8. Variable expressivity of syndromic BMP4-related eye, brain, and digital anomalies: A review of the literature and description of three new cases European Journal of Human Genetics · 2019 · 7 citations
    9. Grey, curly and short-haired Swiss Holstein cattle show genetic traces of the Simmental breed Schweizer Archiv für Tierheilkunde · 2020 · 2 citations
    10. Genomic and phenotypic characterization of Investigator Global Assessment (IGA) scale-based endotypes in atopic dermatitis Journal of The American Academy of Dermatology · 2021 · 3 citations
    11. The growth of human hair Journal of Biological Education · 1984
    12. Complete defect in PA-PLA1α secretion function leading to autosomal recessive woolly hair and hypotrichosis: insights from a novel compound heterozygous LIPH variant study in a Chinese pedigree Frontiers in Genetics · 2025
    13. Prediction of gain-of-function and loss-of-function mutations using Combined Annotation Dependent Depletion (CADD) 2017 · 1 citations
    14. Identification of a Novel MPL Loss of Function Mutation in a Patient with Cyclic Thrombocytopenia and Characterization of This Syndrome Blood · 2016 · 4 citations
    15. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed Genes · 2020 · 27 citations
    16. Case Report: PTCH1 splice-site mutation and sonidegib treatment in Gorlin-Goltz syndrome: clinical insights from a family case study Frontiers in Medicine · 2026
    17. Biallelic HEPHL1 variants impair ferroxidase activity and cause an abnormal hair phenotype PLOS genetics · 2019 · 24 citations
    18. Age-Related Changes in Male Skin: Quantitative Evaluation of One Hundred and Fifty Male Subjects Skin Pharmacology and Physiology · 2013 · 40 citations
    19. Pharmacogenomic variation and chemotherapy-related toxicity profiles in pediatric patients with cancer in Tanzania: a cross-sectional study Frontiers in Pharmacology · 2026
    20. A novel homozygous variant in the dsp gene underlies the first case of non-syndromic form of alopecia Archives of Dermatological Research · 2015 · 2 citations
    21. The possible implication of the S250C variant of the autoimmune regulator protein in a patient with autoimmunity and immunodeficiency: in silico analysis suggests a molecular pathogenic mechanism for the variant Gene · 2014 · 11 citations
    22. 9209 Functional Evaluation Of Novel CYP21A2 Variants: Expanding The Genetic Basis Of Non-classic CAH Journal of the Endocrine Society · 2024
    23. In Silico Characterization and Analysis of Clinically Significant Variants of Lipase-H (LIPH Gene) Protein Associated with Hypotrichosis Pharmaceuticals · 2023
    24. Heterozygous FOXN1 Variants Cause Low TRECs and Severe T Cell Lymphopenia, Revealing a Crucial Role of FOXN1 in Supporting Early Thymopoiesis American journal of human genetics · 2019 · 53 citations
    25. 1032 Characterization of the human scalp hair follicle microbiome reveals differential spatial distribution, abundance and viability of intrafollicular microbiota and modulation of hair growth and metabolism by staphylococcus epidermidis Journal of Investigative Dermatology · 2023
    26. The Double Edge Sword of Testosterone’s Role in the COVID-19 Pandemic Frontiers in Endocrinology · 2021 · 29 citations
    27. Assessment of Multidimensional Health Care Parameters Among Adults in Japan for Developing a Virtual Human Generative Model: Protocol for a Cross-sectional Study JMIR Research Protocols · 2023
    28. Intraretinal variation in disease severity in the Oat mouse model of gyrate atrophy Experimental Eye Research · 2025
    29. Hair in health and disease: an introduction Wageningen Academic Publishers eBooks · 2012 · 3 citations
    30. Gender aspects in skin diseases Journal of the European Academy of Dermatology and Venereology · 2010 · 48 citations