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
Cernunnos deficiency: Further delineation in 5 Egyptian patients	27
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	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
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
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	19
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	18
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
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