This journal publishes case reports and genetic analyses of rare syndromic disorders, often focusing on novel gene variants and their associated phenotypes. The articles detail specific genetic conditions, including neurodevelopmental disorders, endocrine dysfunctions, and various malformations, frequently employing whole-exome sequencing and other molecular genetic techniques for diagnosis and characterization.
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.
GeneticsQ3
Genetics (clinical)Q3
Subject Classification
Web of Science Categories
Genetics & Heredity
Scopus Categories
GeneticsGenetics (clinical)
Research Topics (OpenAlex)
Genomic variations and chromosomal abnormalitiesGenomics and Rare DiseasesGenetics and Neurodevelopmental DisordersDiverse Scientific and Economic StudiesCongenital heart defects researchHuman auditory perception and evaluationPhysics and Engineering Research ArticlesConnective tissue disorders researchRNA modifications and cancerHedgehog Signaling Pathway Studies