This journal focuses on rare genetic disorders, including Arthrogryposis multiplex congenita (AMC) and Myhre syndrome. Research investigates the genetic underpinnings, phenotypic spectrum, and diagnostic approaches for these conditions. The journal also covers advancements in targeted therapies and the impact of genetic testing on diagnosis and patient care.
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.
GeneticsQ2
Genetics (clinical)Q2
Subject Classification
Web of Science Categories
Genetics & Heredity
Scopus Categories
GeneticsGenetics (clinical)
Research Topics (OpenAlex)
Prenatal Screening and DiagnosticsGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesConnective tissue disorders researchGenetics and Neurodevelopmental DisordersHedgehog Signaling Pathway StudiesGenetic and Clinical Aspects of Sex Determination and Chromosomal AbnormalitiesBRCA gene mutations in cancerNeurogenetic and Muscular Disorders ResearchGenetic Syndromes and Imprinting