OOIR: Observatory of International Research

Papers

(The H4-Index of European Journal of Medical Genetics is 19. 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 2022-08-01 to 2026-08-01.)

Article	Citations
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	105
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	41
Rare features in Feingold syndrome type 1	35
A novel RORA genetic variant associated with early-onset obesity and insomnia	35
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	34
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	30
A novel de novo CACNA1G variant p.(Arg1553Gln) associated with neurodevelopmental delay and cerebellar hypoplasia: Expanding the phenotypic spectrum	29
Cernunnos deficiency: Further delineation in 5 Egyptian patients	29
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	25
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	25
Intrafamilial variability of myoclonic dystonia in a large French family carrying a novel SGCE variant	25
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	24
Horizontal gaze palsy with progressive scoliosis (HGPPS): expanding ROBO3 molecular spectrum and refining clinical–neuroimaging phenotypes	22
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	21
STAT3 dominant negative Hyper-IgE syndrome: A patient report with actionable genomic findings	21
Jansen de Vries syndrome: Report of four new patients and review of the literature	20
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	20
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	19
Value of rare diseases reference centers: impact on diagnosis and access to specialized care in fibrous dysplasia of bone	19