OOIR: Observatory of International Research

Papers

(The H4-Index of European Journal of Human Genetics is 29. 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.)

Article	Citations
What’s new in EJHG in April	93
Another common genetic ataxia in South Korea: Spinocerebellar ataxia 36	87
Sociodemographic and health factors associated with genetic testing in Australia: insights from a cohort-based study of 45,061 participants	84
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	82
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	71
Clinical genomics testing: mainstreaming and globalising	67
ARID2-related disorder: further delineation of the clinical phenotype of 27 novel individuals and description of an epigenetic signature	66
Equity and timeliness as factors in the effectiveness of an ethical prenatal sequencing service: reflections from parents and professionals	65
GLA insufficiency should not be called Fabry disease	64
Speech and language deficits are central to SETBP1 haploinsufficiency disorder	61
Managing expectations, rights, and duties in large-scale genomics initiatives: a European comparison	61
Searching for a sense of closure: parental experiences of recontacting after a terminated pregnancy for congenital malformations	57
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	51
Guidelines, guidelines everywhere—and still I’m not sure what to do	51
Whole exome and genome sequencing in mendelian disorders: a diagnostic and health economic analysis	50
Genetic testing decisions in non-western cultures: an opportunity for intergenerational decision making	46
Genomics elucidates both common and rare disease aetiology	46
New year, new genes	44
Hitting the heights with CiteScore	42
The performance of genome sequencing as a first-tier test for neurodevelopmental disorders	38
What is a ‘serious’ genetic condition? The perceptions of people living with genetic conditions	36
POT1 tumour predisposition: a broader spectrum of associated malignancies and proposal for additional screening program	36
GWAS of lipids in Greenlanders finds association signals shared with Europeans and reveals an independent PCSK9 association signal	36
Ambivalence and regret in genome sequencing	36
Welcome to 2025 from EJHG	34

Towards a patient-centred classification of genetic disease severity	32
Preferences and values for rapid genomic testing in critically ill infants and children: a discrete choice experiment	31
Exome sequencing—one test to rule them all?	30
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	30
Reply to Letter by Tellier et al., ‘Scientific refutation of ESHG statement on embryo selection’	29
Phenotype-driven genomics enhance diagnosis in children with unresolved neuromuscular diseases	29