European Journal of Human Genetics, Published online: 16 May 2024; doi:10.1038/s41431-024-01626-7 Loss of heterozygosity in CCM2 cDNA revealing a structural variant causing multiple cerebral cave...
European Journal of Human Genetics, Published online: 13 May 2024; doi:10.1038/s41431-024-01618-7 Actionability and familial uptake following opportunistic genomic screening in a pediatric cancer...
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01615-w COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gast...
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01582-2 Utility of next generation sequencing in paediatric neurological disorders: experience from South...
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01619-6 Biallelic loss of function variants in FUZ result in an orofaciodigital syndrome
European Journal of Human Genetics, Published online: 03 May 2024; doi:10.1038/s41431-024-01576-0 Novel protein-truncating variants of a chromatin-modifying gene MSL2 in syndromic neurodevelopmen...
European Journal of Human Genetics, Published online: 30 April 2024; doi:10.1038/s41431-024-01620-z Novel insights into cancer predisposition genes
European Journal of Human Genetics, Published online: 27 April 2024; doi:10.1038/s41431-024-01612-z Negotiating severity behind the scenes: prenatal testing in Germany