Autor: Himanshu Goel
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Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
European Journal of Human Genetics, Published online: 18 September 2026; doi:10.1038/s41431-026-02236-1Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
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Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
European Journal of Human Genetics, Published online: 18 September 2026; doi:10.1038/s41431-026-02236-1Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
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The globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
European Journal of Human Genetics, Published online: 10 July 2026; doi:10.1038/s41431-026-02184-wThe globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
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The globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
European Journal of Human Genetics, Published online: 10 July 2026; doi:10.1038/s41431-026-02184-wThe globin depletion paradox: when short-read optimisation does not transfer to long-read RNA sequencing
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When truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants
European Journal of Human Genetics, Published online: 01 July 2026; doi:10.1038/s41431-026-02174-yWhen truncation is not loss of function: neo-tail architecture as a determinant of pathogenicity in NMD-escaping frameshift variants
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Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics
European Journal of Human Genetics, Published online: 12 June 2026; doi:10.1038/s41431-026-02150-6Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics
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Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics
European Journal of Human Genetics, Published online: 12 June 2026; doi:10.1038/s41431-026-02150-6Tissue-specific enhanceropathy in Nail-patella syndrome: implications for surveillance and epigenetic diagnostics