OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 22. 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
Editorial to special issue on Ethics in Genetics	99
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	91
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	73
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	64
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	61
Age-dependent somatic expansion of the ATXN3 CAG repeat in the blood and buccal swab DNA of individuals with spinocerebellar ataxia type 3/Machado-Joseph disease	59
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	59
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	52
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	39
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	35
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	33
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA	29
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study	29
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	28
Partially connected neural networks for complex trait prediction: application to human height	28
The obesity-related mutation gene on nonalcoholic fatty liver disease	27
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	27
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	26
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	26
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	24
Monogenic causes of pigmentary mosaicism	24
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	24
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	22