OOIR: Observatory of International Research

Papers

(The H4-Index of European Journal of Human Genetics is 30. 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 2022-01-01 to 2026-01-01.)

Article	Citations
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	130
Hitting the heights with CiteScore	101
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	100
Clinical implementation of polygenic risk scores	97
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	92
Metaplastic breast cancer and BRCA1: first strong evidence of a link	67
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	65
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	65
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	55
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	52
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	48
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	47
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	46
Ethics in editorship: lessons from a major retraction incident	45
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	43
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	43
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	42
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	42
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	41
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	41
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	37
Genomic pathway managers: a novel role in the genomic medicine care pathway in France—overview and perspectives	37
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	36
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	35
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	34

Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	33
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	32
Correction: A framework for evaluating long-term impact of newborn screening	31
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	31
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	31
Prevalence and natural history of schwannomas in neurofibromatosis type 2 (NF2): the influence of pathogenic variants	30
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis	30