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 2022-06-01 to 2026-06-01.)

Article	Citations
Hitting the heights with CiteScore	131
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	104
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	102
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	93
Clinical implementation of polygenic risk scores	78
Metaplastic breast cancer and BRCA1: first strong evidence of a link	62
Ethics in editorship: lessons from a major retraction incident	59
Two siblings with CCDC32-related cardiofacioneurodevelopmental syndrome diagnosed by clinical RNA-sequencing and review of literature	57
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	54
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	54
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	49
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	49
Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives	49
Domain-specific phenotypic profiles in RAF1-related Noonan syndrome	47
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	43
Genetic counseling services for hereditary breast and ovarian cancer: patients’ experience and satisfaction with different service models	41
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	39
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	39
Reporting practices for secondary findings among ERN GENTURIS member institutions in 15 European countries	36
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	36
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	36
Abstracts of the 8th International Workshop on the History of Human Genetics: The History of Eugenics, Evolution of Techniques in Human Genetics and Women in the History of Human Genetics	33
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	32
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	31
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	31

Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	30
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	30
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	30
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	30
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	29