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 2021-05-01 to 2025-05-01.)

Article	Citations
Hitting the heights with CiteScore	95
Germline NPAT inactivating variants as cause of hereditary colorectal cancer	92
Utilization of automated cilia analysis to characterize novel INPP5E variants in patients with non-syndromic retinitis pigmentosa	85
Benign splenic lesions in BAP1-tumor predisposition syndrome: a case series	75
Defining ethical criteria to guide the expanded use of Noninvasive Prenatal Screening (NIPS): Lessons about severity from preimplantation genetic testing	71
Ethical considerations for genetic research in low-income countries: perceptions of informed consent, data sharing, and expectations in Nicaragua	69
Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2	67
Expectations, needs and mid-term outcomes in people accessing to secondary findings from ES: 1st French mixed study (FIND Study)	66
Identification of biallelic POLA2 variants in two families with an autosomal recessive telomere biology disorder	65
Metaplastic breast cancer and BRCA1: first strong evidence of a link	64
“I just wanted more”: Hereditary cancer syndromes patients’ perspectives on the utility of circulating tumour DNA testing for cancer screening	57
Perceptions of severity and their influence on reproductive decision-making following reproductive genetic carrier screening	56
A unique service: how an embedded psychology team can help patients and genetics clinicians within a clinical genetics service	54
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
Panel testing for the molecular genetic diagnosis of congenital hypogonadotropic hypogonadism – a clinical perspective	47
Preferences for genetic testing among populations underrepresented in genomic research: a systematic review	46
The Young Geneticists Network and the ESHG-Young committee, a forward-looking international community	42
Genotype of PAX2-related disorders correlates with kidney and ocular manifestations	40
Abstracts from the 55th European Society of Human Genetics (ESHG) Conference: Hybrid Posters	40
Ethics in editorship: lessons from a major retraction incident	37
Expanding the phenotypic spectrum of NAA10-related neurodevelopmental syndrome and NAA15-related neurodevelopmental syndrome	36
Discovery of recessive effect of human polymerase δ proofreading deficiency through mutational analysis of POLD1-mutated normal and cancer cells	36
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India	35
Direct-to-consumer genetic testing: an updated systematic review of healthcare professionals’ knowledge and views, and ethical and legal concerns	33
Correction: A framework for evaluating long-term impact of newborn screening	32

Johann Gregor Mendel: the victory of statistics over human imagination	32
Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy	31
Genetic and allelic heterogeneity in 248 Indians with skeletal dysplasia	30
Börjeson–Forssman–Lehmann syndrome: delineating the clinical and allelic spectrum in 14 new families	30
Contribution of common risk variants to multiple sclerosis in Orkney and Shetland	30