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 2022-05-01 to 2026-05-01.)

Article	Citations
Hitting the heights with CiteScore	126
Commentary on Eichinger J, Zimmermann B, Elger B, McLennan S, Filges I, Koné I. 2023. ‘It’s a nightmare’: informed consent in paediatric genome-wide sequencing. A qualitative expert interview study fr	110
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	103
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	100
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	88
Clinical implementation of polygenic risk scores	76
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	69
Metaplastic breast cancer and BRCA1: first strong evidence of a link	60
Ethics in editorship: lessons from a major retraction incident	58
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	53
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature	53
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	52
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	49
Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives	47
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	46
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	45
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome	41
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	39
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	38
Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models	37
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	36
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	36
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries	35
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	32
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	31

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	30
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	29
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	29
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	29
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	29
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	29