European Journal of Human Genetics, Published online: 27 June 2026; doi:10.1038/s41431-026-02158-y
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disordersEuropean Journal of Human Genetics, Published online: 27 June 2026; doi:10.1038/s41431-026-02158-y
Systematic analysis of homozygous autosomal copy number losses in exomes improves diagnostic yield and uncovers ultra-rare recessive disorders