Etiqueta: #EurJHumGen
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A three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia
European Journal of Human Genetics, Published online: 18 March 2026; doi:10.1038/s41431-026-02076-zA three generation family with VACTERL association is found to have a rare form of diamond-blackfan anaemia
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Expanding the genetic landscape of Dusty Core Disease: new <i>RYR1</i> variants in Italian patients
European Journal of Human Genetics, Published online: 18 March 2026; doi:10.1038/s41431-026-02080-3Expanding the genetic landscape of Dusty Core Disease: new RYR1 variants in Italian patients
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Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous results
European Journal of Human Genetics, Published online: 18 March 2026; doi:10.1038/s41431-026-02066-1Systematic reassessment of reported variants in individuals with suspicion of Alport spectrum disorder reveals a high rate of ambiguous …
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Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series
European Journal of Human Genetics, Published online: 17 March 2026; doi:10.1038/s41431-026-02074-1Spontaneous coronary artery dissection and vascular Ehlers-Danlos syndrome: a systematic review and case series
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Optimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection
European Journal of Human Genetics, Published online: 16 March 2026; doi:10.1038/s41431-026-02016-xOptimizing GRIDSS for clinical use: A targeted NGS filtering strategy for germline structural variant detection
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Evaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes
European Journal of Human Genetics, Published online: 16 March 2026; doi:10.1038/s41431-026-02077-yEvaluation of BoostDM, a somatic variant prediction tool, for the interpretation of germline variants in hereditary cancer genes
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Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders
European Journal of Human Genetics, Published online: 14 March 2026; doi:10.1038/s41431-026-02075-0Accurate and cost-effective workflow integrating trio pooled-WES for novel gene discovery in neurodevelopmental disorders
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Genetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population
European Journal of Human Genetics, Published online: 13 March 2026; doi:10.1038/s41431-026-02079-wGenetic basis of the circle of Willis characteristics in the healthy and intracranial aneurysm population
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Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting
European Journal of Human Genetics, Published online: 12 March 2026; doi:10.1038/s41431-026-02049-2Survey of diagnostic laboratories highlights need for improved standards in somatic genomic testing and reporting
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Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in <i>TYR</i>
European Journal of Human Genetics, Published online: 11 March 2026; doi:10.1038/s41431-026-02070-5Oculocutaneous albinism variants in 28 consanguineous families and functional classification of a pathogenic deep intron variant in TYR