OOIR: Observatory of International Research

Papers

(The H4-Index of European Journal of Medical Genetics is 15. 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 2021-05-01 to 2025-05-01.)

Article	Citations
Somatic mosaics in hereditary tumor predisposition syndromes	55
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome	39
Sex-linked genetic mechanisms and atrial fibrillation risk	35
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	33
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant	30
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature	27
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases	24
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy	23
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	23
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant	22
Cernunnos deficiency: Further delineation in 5 Egyptian patients	20
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	18
Acute disseminated encephalomyelitis in a patient with Noonan syndrome: A rare autoinflammatory complication or coincidence?	16
Involvement of cranial nerves in ATTR Ile127Val amyloidosis	16
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression	16
Tissue specific trisomy 15 mosaicism associated with urogenital malformations	15
Lenz-Majewski syndrome and recurrent otitis media: Are they related or not?	15
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion	15
Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant	15
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review	15
Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis	15