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 2021-02-01 to 2025-02-01.)

Article	Citations
Quality of life and mental health of adolescents and adults with Silver-Russell syndrome	35
Extracolonic tumours in a pedigree with EPCAM-related Lynch Syndrome	32
A patient with POLA1 splice variant expands the yet evolving phenotype of Van Esch O'Driscoll syndrome	32
A novel homoplasmic mt-tRNAGlu m.14701C>T variant presenting with a partially reversible infantile respiratory chain deficiency	26
Andersen-Tawil syndrome: Overlapping clinical features with Noonan syndrome?	23
Performance of meta-predictors for the classification of MED13L missense variations, implication of raw parameters	22
Editorial Board	20
Molecular genetic characterization of Congolese patients with oculocutaneous albinism	17
A family with an atypical presentation of TBX3-related disorder	17
Phenotypic variability in a family with an inherited KAT6A frameshift variant	17
CHD3-related Snijders Blok-Campeau syndrome with Spastic Paraplegia, Ataxia, and Situs Inversus	16
Editorial Board	16
Consensus recommendations on chewing, swallowing and gastrointestinal problems in Phelan-McDermid syndrome	16
Biallelic loss-of-function variants of GFRA1 cause lethal bilateral renal agenesis	16
Isolated congenital diaphragm hernia associated with homozygous SLIT3 gene variant in dizygous twins	15
Novel pathogenic variants in SLCO2A1 causing autosomal dominant primary hypertrophic osteoarthropathy	15