European Journal of Medical Genetics

Papers
(The H4-Index of European Journal of Medical Genetics is 18. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2022-01-01 to 2026-01-01.)
ArticleCitations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling77
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant48
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy36
A novel RORA genetic variant associated with early-onset obesity and insomnia28
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy28
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome28
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant28
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome26
Cernunnos deficiency: Further delineation in 5 Egyptian patients24
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases24
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review19
Rare features in Feingold syndrome type 119
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report19
Sex-linked genetic mechanisms and atrial fibrillation risk19
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?19
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression19
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries18
Tissue specific trisomy 15 mosaicism associated with urogenital malformations18
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone18
0.092771053314209