This journal publishes research on the genetic basis of human diseases, with a focus on identifying pathogenic variants through whole-exome and whole-genome sequencing. Studies investigate genotype-phenotype correlations in rare genetic disorders, including neurodevelopmental disorders, epilepsy, skeletal dysplasias, and metabolic disorders. The journal also covers the application of genomic technologies for diagnostic purposes, variant interpretation, and the implementation of genetic testing in various clinical settings, including prenatal diagnosis and in low-resource regions.
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Publication & Citation Trend
Articles published
Times cited
2019
2020
2021
2022
2023
2024
2025
2026
Source: OpenAlex · Note: citations accumulate over time so older years appear higher
SJR Quartile by Discipline
Scimago ranks this journal separately in each subject category — its quartile can differ by discipline.
GeneticsQ3
Genetics (clinical)Q3
Molecular BiologyQ3
Subject Classification
Web of Science Categories
Genetics & Heredity
Scopus Categories
GeneticsGenetics (clinical)Molecular Biology
Research Topics (OpenAlex)
Genomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesConnective tissue disorders researchBRCA gene mutations in cancerGenetics and Neurodevelopmental DisordersPrenatal Screening and DiagnosticsCongenital heart defects researchGenetic Syndromes and ImprintingHereditary Neurological DisordersMetabolism and Genetic Disorders