Categoría: EurJHumGen
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The genetics of the circle of Willis come full circle
European Journal of Human Genetics, Published online: 25 April 2026; doi:10.1038/s41431-026-02112-yThe genetics of the circle of Willis come full circle
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Opportunistic genomic screening of healthy controls in an Australian biobank
European Journal of Human Genetics, Published online: 23 April 2026; doi:10.1038/s41431-026-02104-yOpportunistic genomic screening of healthy controls in an Australian biobank
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Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study
European Journal of Human Genetics, Published online: 22 April 2026; doi:10.1038/s41431-026-02099-6Pregnancy experiences of expectant parents with Neurofibromatosis type 1: a qualitative interview study
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Revisiting penetrance in an era of genomic screening
European Journal of Human Genetics, Published online: 21 April 2026; doi:10.1038/s41431-026-02101-1Revisiting penetrance in an era of genomic screening
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Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
European Journal of Human Genetics, Published online: 21 April 2026; doi:10.1038/s41431-026-02098-7Revisiting LSDMCA: male lethality escape and genotype-phenotype correlations
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Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dystrophy
European Journal of Human Genetics, Published online: 20 April 2026; doi:10.1038/s41431-026-02110-0Gene x environment interaction analysis confirms genetic modifier effects on steroid efficacy via TGF-β pathway in Duchenne muscular dys…
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“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic condition
European Journal of Human Genetics, Published online: 11 April 2026; doi:10.1038/s41431-026-02093-y“We’ve done our due diligence”: Experiences of reproductive genetic carrier screening in people with experiential knowledge of a genetic…
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Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the SMA community
European Journal of Human Genetics, Published online: 09 April 2026; doi:10.1038/s41431-026-02096-9Acceptability of newborn screening for spinal muscular atrophy: views of the UK public, screened families, health professionals and the …
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How variant discovery redefines genetic prevalence: the case of cystine stone disease
European Journal of Human Genetics, Published online: 09 April 2026; doi:10.1038/s41431-026-02085-yHow variant discovery redefines genetic prevalence: the case of cystine stone disease
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Variants in the CxxC domain of the epigenetic regulator <i>KDM2B</i> support its role in developmental eye anomalies
European Journal of Human Genetics, Published online: 07 April 2026; doi:10.1038/s41431-026-02090-1Variants in the CxxC domain of the epigenetic regulator KDM2B support its role in developmental eye anomalies