OOIR: Observatory of International Research

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 2022-05-01 to 2026-05-01.)

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	91
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	39
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	33
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	33
A novel RORA genetic variant associated with early-onset obesity and insomnia	32
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	29
Rare features in Feingold syndrome type 1	27
Cernunnos deficiency: Further delineation in 5 Egyptian patients	26
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	22
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	22
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	22
Vascular findings in five unrelated children with vascular Ehlers-Danlos syndrome: A multi-case report	21
Jansen de Vries syndrome: Report of four new patients and review of the literature	20
Development of a low-cost and accurate carrier screening method for spinal muscular atrophy in developing countries	20
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	20
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	19
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	18
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	18
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	18