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    1. Inherited ichthyoses/generalized Mendelian disorders of cornification European journal of human genetics · 2012 · 81 citations
    2. Disorders of Keratinization 2014
    3. Care of the newborn with ichthyosis Dermatologic Therapy · 2013 · 49 citations
    4. Ichthyosis in Unani Medicine: A Comprehensive Review of Disorders of Cornification and their Modern Dermatological Correlates International Journal of Science and Research (IJSR) · 2026
    5. Ichthyoses Springer eBooks · 2015
    6. Proceedings of the Inaugural Pediatric Dermatology Research Alliance (PeDRA) Conference 2014
    7. Embryologic layers in dermatology: Developmental checkpoint disorders, diagnostic insight, and regenerative futures Italian Journal of Anatomy and Embryology · 2025
    8. A KRT71 Loss-of-Function Variant Results in Inner Root Sheath Dysplasia and Recessive Congenital Hypotrichosis of Hereford Cattle Genes · 2021 · 2 citations
    9. Pili Torti: A Feature of Numerous Congenital and Acquired Conditions Journal of clinical medicine · 2021 · 9 citations
    10. Loss of epidermal Evi/Wls results in a phenotype resembling psoriasiform dermatitis 2013 · 51 citations
    11. 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
    12. Advances in the treatment of autosomal recessive congenital ichthyosis, a look towards the repositioning of drugs Frontiers in pharmacology · 2023
    13. Epidermal mammalian target of rapamycin complex 2 controls lipid synthesis and filaggrin processing in epidermal barrier formation Journal of Allergy and Clinical Immunology · 2019 · 34 citations
    14. Conditional knock out of N-WASP in keratinocytes causes skin barrier defects and atopic dermatitis-like inflammation Scientific Reports · 2017 · 27 citations
    15. Ppp2r2a Knockout Mice Reveal That Protein Phosphatase 2A Regulatory Subunit, PP2A-B55α, Is an Essential Regulator of Neuronal and Epidermal Embryonic Development Frontiers in Cell and Developmental Biology · 2020 · 12 citations
    16. The Chicken Frizzle Feather Is Due to an α-Keratin (KRT75) Mutation That Causes a Defective Rachis PLoS Genetics · 2012 · 99 citations
    17. Androgenetic Alopecia Springer eBooks · 1996 · 8 citations
    18. A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features Nature Communications · 2016 · 196 citations
    19. The Cytology and Cytochemistry of the Wool Follicle International review of cytology · 1979 · 90 citations
    20. Clinical and genetic investigation of ichthyosis in familial and sporadic cases in south of Tunisia: genotype–phenotype correlation BMC Medical Genomics · 2022 · 6 citations
    21. Cystatin M/E Variant Causes Autosomal Dominant Keratosis Follicularis Spinulosa Decalvans by Dysregulating Cathepsins L and V Frontiers in Genetics · 2021 · 6 citations
    22. Hair follicles modulate skin barrier function Cell Reports · 2024 · 9 citations
    23. Sebaceous Gland, Hair Shaft, and Epidermal Barrier Abnormalities in Keratosis Pilaris with and without Filaggrin Deficiency ˜The œAmerican journal of pathology · 2015 · 23 citations
    24. Targeting the Complexity of In Vitro Skin Models: A Review of Cutting-Edge Developments Journal of Investigative Dermatology · 2024 · 32 citations
    25. An autosomal recessive nonsense variant in the EGFR gene induces perinatal lethality in “Blonde d'Aquitaine” calves BMC Veterinary Research · 2026
    26. Corneodesmosin gene ablation induces lethal skin-barrier disruption and hair-follicle degeneration related to desmosome dysfunction Journal of Cell Science · 2009 · 87 citations
    27. Skin-specific regulation of SREBP processing and lipid biosynthesis by glycerol kinase 5 Proceedings of the National Academy of Sciences of the United States of America · 2017 · 18 citations
    28. Hair Loss Caused by Gain-of-Function Mutant TRPV3 Is Associated with Premature Differentiation of Follicular Keratinocytes 2021 · 11 citations
    29. Causal Link of Distinct Mental Disorders with Androgenetic Alopecia and Alopecia Areata: A Bidirectional Two-Sample Mendelian Randomization Study Clinical Cosmetic and Investigational Dermatology · 2025
    30. MendelVar: gene prioritization at GWAS loci using phenotypic enrichment of Mendelian disease genes bioRxiv (Cold Spring Harbor Laboratory) · 2020 · 2 citations