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    1. Common Variants in the Trichohyalin Gene Are Associated with Straight Hair in Europeans American journal of human genetics · 2009 · 234 citations
    2. Common variants in the sex hormone-binding globulin gene (SHBG) and polycystic ovary syndrome (PCOS) in Mediterranean women Human Reproduction · 2012 · 39 citations
    3. Common Variants in the Sex Hormone-Binding Globulin (SHBG) Gene Influence SHBG Levels in Women with Polycystic Ovary Syndrome Annals of Nutrition and Metabolism · 2015 · 24 citations
    4. Follicular vitiligo: A rare clinical variant of a common entity Pigment International · 2025
    5. 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
    6. Rare and common genetic determinants of metabolic individuality and their effects on human health Nature Medicine · 2022 · 29 citations
    7. Dissection of genetic variation and evidence for pleiotropy in male pattern baldness Nature Communications · 2018 · 58 citations
    8. Analysis of the phenotypic variants of polycystic ovarian syndrome in women of reproductive age group Nepal Journal of Obstetrics and Gynaecology · 2022
    9. Dermal Adnexal Neoplasms: Exploring Rare Variants and Their Clinical Behavior International Journal of Drug Delivery Technology · 2026
    10. Characteristics of phenotypes (clinical variants) of polycystic ovary syndrome in women of reproductive age Reproductive health of woman · 2021 · 2 citations
    11. Granulomatous alopecia areata is a valid but rare histologic subset of a common disease JAAD case reports · 2022
    12. Utilizing functional genomics approaches to characterize risk genes in alopecia areata Columbia Academic Commons (Columbia University) · 2020
    13. Tru9I Variant as a Novel Genetic Marker for Vitamin D Deficiency in Alopecia Areata Clinical Cosmetic and Investigational Dermatology · 2025
    14. Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: e-Posters European Journal of Human Genetics · 2023 · 1 citations
    15. Pathogenic variants affecting peptidyl arginine deiminase 3 and its major substrates underlie central centrifugal cicatricial alopecia. PubMed · 2025
    16. Analysis of 72,469 UK Biobank exomes links rare variants to male-pattern hair loss Nature Communications · 2023
    17. S124 Variants of myxoid cysts: Diagnosis and treatment 1997
    18. 303 The role of rare variants in male-pattern hair loss: Analysis of whole exome sequencing data in the UK Biobank Journal of Investigative Dermatology · 2022
    19. Panfolliculoma: Report of the Youngest Case and Literature Review of Its Histopathologic Variants Life · 2022 · 2 citations
    20. Severe Variant of X‐linked Dyskeratosis Congenita (Hoyeraal‐Hreidarsson Syndrome) Causes Significant Enterocolitis in Early Infancy Journal of Pediatric Gastroenterology and Nutrition · 2009 · 26 citations
    21. A variant of the glucocorticoid receptor gene is not associated with adrenal androgen excess in women with polycystic ovary syndrome Fertility and Sterility · 2000 · 20 citations
    22. JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease Journal of Allergy and Clinical Immunology · 2025 · 1 citations
    23. The Search for the Causes of Common Hyperandrogenism, 1965 to Circa 2015 Endocrine Reviews · 2024 · 10 citations
    24. Deficient anterior pituitary with common variable immune deficiency (DAVID syndrome): a new case and literature reports Journal of neuroendocrinology · 2023 · 1 citations
    25. TREATMENT OF KERATOSIS PILARIS: A NARRATIVE LITERATURE REVIEW OF TOPICAL, PROCEDURAL, AND VARIANT-SPECIFIC THERAPIES International Journal of Innovative Technologies in Social Science · 2026
    26. A Mosaic Hotspot <i>PLCD1</i> Variant, Detectable in Blood‐Derived DNA, Associated With Nevus Trichilemmocysticus American Journal of Medical Genetics Part A · 2025
    27. Exome-wide age-of-onset analysis reveals exonic variants in ERN1, TACR3 and SPPL2C associated with Alzheimer’s disease bioRxiv (Cold Spring Harbor Laboratory) · 2020
    28. Female pattern hair loss in men: A distinct clinical variant of androgenetic alopecia Journal of The American Academy of Dermatology · 2020 · 5 citations
    29. Exome-wide age-of-onset analysis reveals exonic variants in ERN1 and SPPL2C associated with Alzheimer’s disease Translational Psychiatry · 2021 · 12 citations
    30. Autoimmune Polyglandular Syndrome Type 1 in Russian Patients: Clinical Variants and Autoimmune Regulator Mutations Hormone research in paediatrics · 2010 · 62 citations