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    1. Discordant phenotype in monozygotic twins with mosaic trisomy 12p in lymphocytes European journal of medical genetics · 2012 · 13 citations
    2. De novo single-nucleotide and copy number variation in discordant monozygotic twins reveals disease-related genes European Journal of Human Genetics · 2019 · 36 citations
    3. Potential genetic associations of acne scar phenotypes: IL1A in fibrotic scarring and CYB5R1 in atrophic scarring Biomedical Research and Therapy · 2026
    4. Polycystic ovary syndrome: Criteria, phenotypes, race and ethnicity Reproductive Medicine and Biology · 2025 · 14 citations
    5. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    6. Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) Orphanet Journal of Rare Diseases · 2022 · 8 citations
    7. PNKP is required for maintaining the integrity of progenitor cell populations in adult mice Life science alliance · 2021 · 3 citations
    8. Ottawa, Ontario, Canada, February 13–16, 2013 The Journal of Rheumatology · 2013 · 4 citations
    9. Antimüllerian hormone to determine polycystic ovarian morphology Fertility and Sterility · 2021 · 21 citations
    10. The Genetics of Human Skin Disease Cold Spring Harbor Perspectives in Medicine · 2014 · 24 citations
    11. Ovarian Morphology Is a Marker of Heritable Biochemical Traits in Sisters with Polycystic Ovaries The Journal of Clinical Endocrinology and Metabolism · 2008 · 73 citations
    12. Major Histocompatibility Complex Class I Chain-Related Gene A Polymorphisms and Extended Haplotypes Are Associated with Familial Alopecia Areata Journal of Investigative Dermatology · 2005 · 44 citations
    13. Approach to the Patient: Diagnostic Challenges in the Work Up for Polycystic Ovary Syndrome The Journal of Clinical Endocrinology & Metabolism · 2025
    14. Mutations in the helix termination motif of mouse type I IRS keratin genes impair the assembly of keratin intermediate filament Genomics · 2007 · 27 citations
    15. Structural and epistatic regulatory variants cause hallmark white spotting in cattle Science Advances · 2025 · 1 citations
    16. Unusual Presentation of Denys-Drash Syndrome in a Girl with Undisclosed Consumption of Biotin JCRPE · 2020 · 2 citations
    17. Evolution and genetic architecture of sex-limited polymorphism in cuckoos Science Advances · 2024 · 1 citations
    18. Author response: Type XVII collagen coordinates proliferation in the interfollicular epidermis 2017
    19. Decision letter: Type XVII collagen coordinates proliferation in the interfollicular epidermis 2017
    20. Beyond “Ethnicity” in Dermatology Dermatologic Clinics · 2014 · 2 citations
    21. Endocrine care of transpeople part I. A review of cross-sex hormonal treatments, outcomes and adverse effects in transmen Clinical Endocrinology · 2015 · 45 citations
    22. Significant effects of mild endogenous hormonal changes in humans: considerations for low-dose testing. Environmental Health Perspectives · 2001 · 30 citations
    23. Unravelling the link between insulin resistance and androgen excess University of Birmingham Institutional Research Archive (University of Birmingham) · 2015
    24. Managing the PCOS-Related Symptoms of Hirsutism, Acne, and Hair Loss Springer eBooks · 2013 · 1 citations
    25. Lentiginous melanoma. A clinically malignant entity that histopathologically seems benign. Case study harbouring BRAF V 600R mutation Journal of the European Academy of Dermatology and Venereology · 2015 · 1 citations
    26. Genetic Defects of Female Sexual Differentiation Elsevier eBooks · 2016
    27. Transsexualism S. Karger AG eBooks · 2012
    28. Male-pattern baldness susceptibility locus at 20p11 Nature Genetics · 2008 · 111 citations
    29. PCOS in lesbian and heterosexual women treated with artificial donor insemination Reproductive Biomedicine Online · 2008 · 20 citations
    30. Evidence-Based and Potential Benefits of Metformin in the Polycystic Ovary Syndrome: A Comprehensive Review Endocrine Reviews · 2008 · 343 citations