Categoría: EurJHumGen
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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
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Managing genetic information sharing at family and population level
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01514-6Managing genetic information sharing at family and population level
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Abstracts from the 56<sup>th</sup> European Society of Human Genetics (ESHG) Conference
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01479-6Abstracts from the 56th European Society of Human Genetics (ESHG) Conference
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Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions
European Journal of Human Genetics, Published online: 04 January 2024; doi:10.1038/s41431-023-01520-8Informed consent for whole genome sequencing in mainstream clinics: logistical constraints and possible solutions
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De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
European Journal of Human Genetics, Published online: 20 December 2023; doi:10.1038/s41431-023-01513-7De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India
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Perception of genomic newborn screening among peripartum mothers
European Journal of Human Genetics, Published online: 19 December 2023; doi:10.1038/s41431-023-01497-4Perception of genomic newborn screening among peripartum mothers
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Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa
European Journal of Human Genetics, Published online: 15 December 2023; doi:10.1038/s41431-023-01509-3Genetic basis of osteogenesis imperfecta from a single tertiary centre in South Africa