Categoría: Articulos
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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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Reverse haplotyping: taking full advantage of 25% risk testing for the 50% at-risk parent in Huntingtons disease
Presymptomatic testing (PT) for Huntington’s disease (HD) has been available for over 40 years. Individuals who opt for PT are typically at a 50% risk, though in rare cases, ‘25% at-risk individuals’ request to know their genetic stat…
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ACAN-related disorder, antenatal presentation and phenotypic variability: a case series
BackgroundPathogenic ACAN variants (‘aggrecanopathies’) are increasingly recognised as a non-syndromic cause of skeletal dysplasias and short stature. Unlike many other aetiologies, ACAN-related disorder is reportedly associated with advanc…
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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
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Identification and functional analysis of NAD+ metabolism-related gene NT5E in pulmonary hypertension
BackgroundPulmonary hypertension (PH) is a severe progressive disease characterised by elevated pulmonary vascular resistance and right ventricular hypertrophy. Increasing evidence has highlighted the vital role of nicotinamide adenine dinucleotide (NA…
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Expanded carrier screening in a Southwestern Chinese population indicates East Asian specific low-frequency pathogenic variants account for nearly half of the at-risk couple rate
BackgroundThe optimal disease spectrum for carrier screening (CS) remains debated. We aimed to characterise the carrier landscape and quantify the at-risk couple rate (ACR) components in a Chinese population to guide panel design.MethodsUsing a 334-gen…
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Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in Italy
European Journal of Human Genetics, Published online: 03 April 2026; doi:10.1038/s41431-026-02063-4Pharmacogenetic testing in Italy: results of a nationwide survey by the Joint Working Group for the pharmacogenetics implementation in I…