This journal publishes research on rare genetic disorders, focusing on their clinical manifestations, genetic causes, and molecular mechanisms. Articles describe conditions such as inborn errors of metabolism, skeletal dysplasias, and neurodevelopmental disorders, often presenting new case studies and genetic findings.
Based on the Think.Check.Submit framework by DOAJ, COPE & OASPA. All data from verified open sources.
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.
AnatomyQ3
Medicine (miscellaneous)Q3
Pathology and Forensic MedicineQ3
Pediatrics, Perinatology and Child HealthQ3
Genetics (clinical)Q4
Subject Classification
Web of Science Categories
Genetics & Heredity
Scopus Categories
Pediatrics, Perinatology and Child HealthPathology and Forensic MedicineMedicine (miscellaneous)Genetics (clinical)Anatomy
Research Topics (OpenAlex)
Genomic variations and chromosomal abnormalitiesCraniofacial Disorders and TreatmentsConnective tissue disorders researchCongenital limb and hand anomaliesPrenatal Screening and DiagnosticsGenomics and Rare DiseasesHedgehog Signaling Pathway StudiesGenetic Syndromes and ImprintingCleft Lip and Palate ResearchCongenital heart defects research