Affinity-optimizing enhancer variants disrupt development
Topics
ZRS enhancer · Shh expression · limb development · polydactyly · ETS binding sites · ETS-A site · low-affinity binding sites · affinity-optimizing variants · single-nucleotide variants (SNVs) · gain-of-function gene expression · IRF sites · HOX sites · AP-1 sites · enhanceropathies · penetrance · suboptimal binding affinity · tissue-specific enhancer activity · Transcription factor binding affinity · pathogenic variants in enhancers
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Pepkio Research Index (PRI). Topics and Trends in Most Cited Genomics and Chromatin Dynamics Papers, Class of 2026. https://pri.pepkio.com/top-papers/genomics-and-chromatin-dynamics/2026. Accessed 2026-10-24. Methodology Zheng Su, Tinsley Li, Thematic Shifts in Early-High-Impact Cancer Genomics and Diagnostics Research: A Bibliometric and Semantic Analysis. bioRxiv 2026.07.04.736459; doi: https://doi.org/10.64898/2026.07.04.736459

