European Journal of Medical Genetics

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 2021-04-01 to 2025-04-01.)
ArticleCitations
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome53
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome39
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome35
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency33
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?30
Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters24
Molecular genetic characterization of Congolese patients with oculocutaneous albinism23
Editorial Board23
Phenotypic variability in a family with an inherited KAT6A frameshift variant20
CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus18
A family with an atypical presentation of TBX3-related disorder18
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome16
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis16
Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins15
Editorial Board15
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy15
Disclosure of genetic risk in the family: A survey of the Flemish general population15
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