This journal publishes research on rare genetic disorders, focusing on the identification and characterization of pathogenic variants in specific genes and their associated phenotypes. Articles detail novel genetic alterations, genotype-phenotype correlations, and the diagnostic challenges and advancements in understanding these conditions.
Genomic variations and chromosomal abnormalitiesGenetics and Neurodevelopmental DisordersGenomics and Rare DiseasesCongenital heart defects researchPrenatal Screening and DiagnosticsConnective tissue disorders researchRNA modifications and cancerGenetic Syndromes and ImprintingChromosomal and Genetic VariationsCongenital Ear and Nasal Anomalies