European Journal of Human Genetics, Published online: 28 March 2024; doi:10.1038/s41431-024-01596-w The BRCA mutation spectrum among breast and ovarian cancers in India: highlighting the need to ...
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01589-9 Decreased calcium permeability caused by biallelic TRPV5 mutation leads to autosomal recessive ...
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-023-01531-5 Secondary use of genomic data: patients’ decisions at point of testing and perspectives to in...
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01597-9 DNA methylation profiling in Kabuki syndrome: reclassification of germline KMT2D VUS and sensit...
European Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s41431-024-01592-0 Evaluation of a two-step model of opportunistic genomic screening
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01591-1 A yeast based assay establishes the pathogenicity of novel missense ACTA2 variants associated w...
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01584-0 The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss p...
European Journal of Human Genetics, Published online: 15 March 2024; doi:10.1038/s41431-024-01590-2 Prenatal Genome-Wide Sequencing analysis (Exome or Genome) in detecting pathogenic Single Nucle...