European Journal of Medical Genetics

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 2021-06-01 to 2025-06-01.)
ArticleCitations
Expansion of the phenotypic and mutational spectrum of Carpenter syndrome57
Sex-linked genetic mechanisms and atrial fibrillation risk40
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant35
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy35
Cernunnos deficiency: Further delineation in 5 Egyptian patients30
Somatic mosaics in hereditary tumor predisposition syndromes30
Data collection on rare bone and mineral conditions in Europe: The landscape of registries and databases27
Combined achondroplasia and short stature homeobox-containing (SHOX) gene deletion in a Danish infant24
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency24
Intermittent macrothrombocytopenia in a novel patient with Takenouchi-Kosaki syndrome and review of literature22
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome22
Therapeutic targeting in pediatric acute myeloid leukemia with aberrant HOX/MEIS1 expression21
Wolcott-Rallison Syndrome – crosstalk between PERK- EIF2A and type II interferon signaling.18
Supernumerary chromosome 6 marker associated with paternal uniparental isodisomy of chromosome 6 in a patient with a syndromic disorder of insulin secretion18
PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy18
The third patient of ACACA-related acetyl-CoA carboxylase deficiency with seizure and literature review17
Present and future role of endoscopic retrograde cholangiography in primary sclerosing cholangitis17
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