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 2021-11-01 to 2025-11-01.)

Article	Citations
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	120
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	98
Metaplastic breast cancer and BRCA1: first strong evidence of a link	94
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	92
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	90
Hitting the heights with CiteScore	89
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	68
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	65
Clinical implementation of polygenic risk scores	64
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	51
A new multisystem ERCC1-hepatorenal syndrome: insights from a clinical cohort, molecular pathogenesis, and management guidelines	49
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	48
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	47
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	45
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	43
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	43
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	43
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	41
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	40
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	40
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	39
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	38
Ethics in editorship: lessons from a major retraction incident	36
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci	35
View of healthcare professionals on ultra-rapid genome sequencing and its future implementation in clinical practice for critically ill children	35

Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	33
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	32
Correction: A framework for evaluating long-term impact of newborn screening	32
Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus	30
Exploring the ethics of genetic prioritisation for COVID-19 vaccines	30
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	30
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	30
Identification and characterization of two DMD pedigrees with large inversion mutations based on a long-read sequencing pipeline	30