OOIR: Observatory of International Research

Papers

(The H4-Index of European Journal of Medical Genetics is 17. 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 2021-11-01 to 2025-11-01.)

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	74
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	46
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	45
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	35
Somatic mosaics in hereditary tumor predisposition syndromes	32
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	29
Sex-linked genetic mechanisms and atrial fibrillation risk	28
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	28
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	27
Cernunnos deficiency: Further delineation in 5 Egyptian patients	27
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	25
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	23
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	20
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	19
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	19
A novel RORA genetic variant associated with early-onset obesity and insomnia	19
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	18
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	17
Efficacy and safety of sirolimus therapy in familial hypoinsulinemic hypoglycemia caused by AKT2 mutation inherited from the mosaic father	17
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	17
Jansen de Vries syndrome: Report of four new patients and review of the literature	17
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	17
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	17