Categoría: EurJHumGen
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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
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Are disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
European Journal of Human Genetics, Published online: 14 December 2023; doi:10.1038/s41431-023-01510-wAre disease-specific patient-reported outcomes measures (PROMs) used in cardiogenetics? A systematic review
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Exome sequencing of <i>ATP1A3</i>-negative cases of alternating hemiplegia of childhood reveals <i>SCN2A</i> as a novel causative gene
European Journal of Human Genetics, Published online: 14 December 2023; doi:10.1038/s41431-023-01489-4Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene
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Associating <i>CYP2A6</i> structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
European Journal of Human Genetics, Published online: 14 December 2023; doi:10.1038/s41431-023-01518-2Associating CYP2A6 structural variants with ovarian and lung cancer risk in the UK Biobank: replication and extension
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Complex rearrangement in <i>TBC1D4</i> in an individual with diabetes due to severe insulin resistance syndrome
European Journal of Human Genetics, Published online: 12 December 2023; doi:10.1038/s41431-023-01512-8Complex rearrangement in TBC1D4 in an individual with diabetes due to severe insulin resistance syndrome