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 2021-09-01 to 2025-09-01.)

Article	Citations
Hitting the heights with CiteScore	109
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	103
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	93
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	87
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	86
Metaplastic breast cancer and BRCA1: first strong evidence of a link	84
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	83
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	66
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	62
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	60
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	51
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	47
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	45
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	43
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	42
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	41
Ethics in editorship: lessons from a major retraction incident	40
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	40
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	39
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	38
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	36
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	35
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	35
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	35
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	35

Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	34
Johann Gregor Mendel: the victory of statistics over human imagination	33
Correction: A framework for evaluating long-term impact of newborn screening	32
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	31
Exploring the ethics of genetic prioritisation for COVID-19 vaccines	29
A polygenic risk score for multiple myeloma risk prediction	29
Correction: Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes	29
Investigation of a pathogenic inversion in UNC13D and comprehensive analysis of chromosomal inversions across diverse datasets	29
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia	29