Categoría: EurJHumGen
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Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
European Journal of Human Genetics, Published online: 12 January 2024; doi:10.1038/s41431-023-01532-4Reanalysis of genomic data, how do we do it now and what if we automate it? A qualitative study
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Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections
European Journal of Human Genetics, Published online: 10 January 2024; doi:10.1038/s41431-023-01521-7Genome, HLA and polygenic risk score analyses for prevalent and persistent cervical human papillomavirus (HPV) infections
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Confirmation and expansion of the phenotype of the <i>TCEAL1</i>-related neurodevelopmental disorder
European Journal of Human Genetics, Published online: 10 January 2024; doi:10.1038/s41431-023-01530-6Confirmation and expansion of the phenotype of the TCEAL1-related neurodevelopmental disorder
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Expanding the phenotype of copy number variations involving <i>NR0B1</i> (<i>DAX1)</i>
European Journal of Human Genetics, Published online: 10 January 2024; doi:10.1038/s41431-023-01522-6Expanding the phenotype of copy number variations involving NR0B1 (DAX1)
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LanDis: the disease landscape explorer
European Journal of Human Genetics, Published online: 10 January 2024; doi:10.1038/s41431-023-01511-9LanDis: the disease landscape explorer
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Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations
European Journal of Human Genetics, Published online: 05 January 2024; doi:10.1038/s41431-023-01517-3Validity of European-centric cardiometabolic polygenic scores in multi-ancestry populations
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Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01519-1Publisher Correction: A 39 kb structural variant causing Lynch syndrome detected by optical genome mapping and nanopore sequencing
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Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01523-5Decoding complex inherited phenotypes in rare disorders: the DECIPHERD initiative for rare undiagnosed diseases in Chile
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<i>DAG1</i> haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01516-4DAG1 haploinsufficiency is associated with sporadic and familial isolated or pauci-symptomatic hyperCKemia
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Abstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01480-zAbstracts from the 56th European Society of Human Genetics (ESHG) Conference: Oral Presentations