Etiqueta: #EurJHumGen
-
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 …
-
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
-
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
-
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…
-
Position statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing
European Journal of Human Genetics, Published online: 03 April 2026; doi:10.1038/s41431-026-02033-wPosition statement from the Italian Society of Human Genetics (SIGU) on the implementation of germline pharmacogenetic testing
-
Correction: Comprehensive analysis of <i>CNOT3</i>-related neurodevelopmental disorders: phenotypic and genotypic characterization
European Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02087-wCorrection: Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
-
Advances in genomic medicine: from diagnosis to patient perspectives
European Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02088-9Advances in genomic medicine: from diagnosis to patient perspectives
-
Correction: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services
European Journal of Human Genetics, Published online: 02 April 2026; doi:10.1038/s41431-026-02094-xCorrection: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics ser…
-
Short-read genome sequencing at population scale: diagnostic insights from 2317 patients
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02089-8Short-read genome sequencing at population scale: diagnostic insights from 2317 patients
-
Rare solid tumours as indicators of hereditary cancer syndromes
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02091-0Rare solid tumours as indicators of hereditary cancer syndromes