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    Research 811–840 of 1000+

    1. Evidence for Novel Functions of the Keratin Tail Emerging from a Mutation Causing Ichthyosis Hystrix Journal of Investigative Dermatology · 2001 · 130 citations
    2. Novel Hairless Mutations in Two Kindreds with Autosomal Recessive Papular Atrichia Journal of Investigative Dermatology · 1999 · 66 citations
    3. STUB1 mutations in autosomal recessive ataxias – evidence for mutation-specific clinical heterogeneity Orphanet Journal of Rare Diseases · 2014 · 65 citations
    4. Meta-analysis identifies novel risk loci and yields systematic insights into the biology of male-pattern baldness Nature communications · 2017 · 64 citations
    5. Postzygotic Mutations in Beta-Actin Are Associated with Becker’s Nevus and Becker’s Nevus Syndrome Journal of Investigative Dermatology · 2017 · 62 citations
    6. Signature selection analysis reveals candidate genes associated with production traits in Iranian sheep breeds BMC Veterinary Research · 2021 · 55 citations
    7. Autosomal Recessive Hypotrichosis with Woolly Hair Caused by a Mutation in the Keratin 25 Gene Expressed in Hair Follicles Journal of Investigative Dermatology · 2016 · 50 citations
    8. Genetic predictors of testosterone and their associations with cardiovascular disease and risk factors: A Mendelian randomization investigation International journal of cardiology · 2018 · 50 citations
    9. Detection of circular RNA expression and related quantitative trait loci in the human dorsolateral prefrontal cortex Genome Biology · 2019 · 48 citations
    10. A powerful method for pleiotropic analysis under composite null hypothesis identifies novel shared loci between Type 2 Diabetes and Prostate Cancer PLOS Genetics · 2020 · 43 citations
    11. Exploring the possibility of predicting human head hair greying from DNA using whole-exome and targeted NGS data BMC Genomics · 2020 · 37 citations
    12. A kindred with mutant IKAROS and autoimmunity Journal of Allergy and Clinical Immunology · 2018 · 37 citations
    13. Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome American journal of human genetics · 2020 · 34 citations
    14. A genome-wide association study of chemotherapy-induced alopecia in breast cancer patients Breast cancer research · 2013 · 32 citations
    15. Rare and common genetic determinants of metabolic individuality and their effects on human health Nature Medicine · 2022 · 29 citations
    16. Effects of lifelong testosterone exposure on health and disease using Mendelian randomization eLife · 2020 · 29 citations
    17. Werewolf, There Wolf: Variants in Hairless Associated with Hypotrichia and Roaning in the Lykoi Cat Breed Genes · 2020 · 27 citations
    18. Predicting hair cortisol levels with hair pigmentation genes: a possible hair pigmentation bias Scientific Reports · 2017 · 23 citations
    19. The Phenotypic and Genotypic Spectra of Ichthyosis With Confetti Plus Novel Genetic Variation in the 3′ End of<i>KRT10</i> JAMA dermatology · 2014 · 22 citations
    20. Thiopurines: Recent Topics and Their Role in the Treatment of Inflammatory Bowel Diseases Frontiers in Pharmacology · 2021 · 21 citations
    21. Rare Germline Pathogenic Variants Identified by Multigene Panel Testing and the Risk of Aggressive Prostate Cancer Cancers · 2021 · 20 citations
    22. Genomic Regions Associated with Wool, Growth and Reproduction Traits in Uruguayan Merino Sheep Genes · 2023 · 19 citations
    23. The molecular pathogenesis of Trichilemmal carcinoma BMC Cancer · 2020 · 19 citations
    24. Exomic Sequencing of Immune-Related Genes Reveals Novel Candidate Variants Associated with Alopecia Universalis PLoS ONE · 2013 · 18 citations
    25. Chronic overlapping pain conditions and nociplastic pain Human Genetics and Genomics Advances · 2024 · 16 citations
    26. Genomic Inbreeding and Runs of Homozygosity Analysis of Cashmere Goat Animals · 2024 · 15 citations
    27. Genome-wide association study for cashmere traits in Inner Mongolia cashmere goat population reveals new candidate genes and haplotypes BMC Genomics · 2024 · 13 citations
    28. Transcriptome Meta-Analysis Confirms the Hidradenitis Suppurativa Pathogenic Triad: Upregulated Inflammation, Altered Epithelial Organization, and Dysregulated Metabolic Signaling Biomolecules · 2022 · 13 citations
    29. Genome-wide Target Enrichment-aided Chip Design: a 66 K SNP Chip for Cashmere Goat Scientific reports · 2017 · 13 citations
    30. A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits Genetics selection evolution · 2021 · 11 citations