Etiqueta: #EurJHumGen
-
Correction: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X syndrome
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02095-wCorrection: A missense variant in the KH0-domain of FMRP downregulates the protein in a patient with the clinical hallmarks of fragile X…
-
Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells
European Journal of Human Genetics, Published online: 31 March 2026; doi:10.1038/s41431-026-02071-4Bridging population and cell: modelling complex diseases with human induced pluripotent stem cells
-
Non-coding structural variants disrupting conserved <i>PITX2</i> enhancer loci in Axenfeld–Rieger syndrome
European Journal of Human Genetics, Published online: 26 March 2026; doi:10.1038/s41431-026-02086-xNon-coding structural variants disrupting conserved PITX2 enhancer loci in Axenfeld–Rieger syndrome
-
Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension
European Journal of Human Genetics, Published online: 25 March 2026; doi:10.1038/s41431-026-02081-2Expanding the genetic burden of low-evidence genes in pulmonary arterial hypertension
-
DNA methylation signature and clinical delineation of <i>PACS1</i>-related disorder in 24 unreported individuals
European Journal of Human Genetics, Published online: 25 March 2026; doi:10.1038/s41431-026-02083-0DNA methylation signature and clinical delineation of PACS1-related disorder in 24 unreported individuals
-
Comparing the types of haemochromatosis- from genetics to clinics
European Journal of Human Genetics, Published online: 25 March 2026; doi:10.1038/s41431-026-02084-zComparing the types of haemochromatosis- from genetics to clinics
-
From science to service–overcoming clinical implementation barriers to population genomic screening
European Journal of Human Genetics, Published online: 19 March 2026; doi:10.1038/s41431-026-02082-1From science to service–overcoming clinical implementation barriers to population genomic screening
-
Sequencing approaches in hereditary cancer testing: strengths, limitations and future directions
European Journal of Human Genetics, Published online: 18 March 2026; doi:10.1038/s41431-026-02078-xSequencing approaches in hereditary cancer testing: strengths, limitations and future directions
-
Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants
European Journal of Human Genetics, Published online: 18 March 2026; doi:10.1038/s41431-026-02072-3Analysis of structure and conservation for supporting functional evaluation of PMS2 missense variants
-
Navigating the use of preimplantation genetic testing: a retrospective analysis of 15 years of the Dutch National Indications Committee for PGT
European Journal of Human Genetics, Published online: 18 March 2026; doi:10.1038/s41431-026-02067-0Navigating the use of preimplantation genetic testing: a retrospective analysis of 15 years of the Dutch National Indications Committee …