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 2021-09-01 to 2025-09-01.)

Article	Citations
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	68
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	44
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	41
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	37
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	33
Somatic mosaics in hereditary tumor predisposition syndromes	32
Cernunnos deficiency: Further delineation in 5 Egyptian patients	27
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	27
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	26
A novel RORA genetic variant associated with early-onset obesity and insomnia	25
Wolcott-Rallison syndrome – crosstalk between PERK- EIF2A and type II interferon signaling	25
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	24
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	23
Sex-linked genetic mechanisms and atrial fibrillation risk	20
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	18
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	18
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	18
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?	17
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	17