OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 25. 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 2021-10-01 to 2025-10-01.)

Article	Citations
Editorial to special issue on Ethics in Genetics	112
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	87
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	82
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	79
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	59
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	58
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	56
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	56
Challenges in the diagnosis of neurofibromatosis type 1 (NF1) in young children facilitated by means of revised diagnostic criteria including genetic testing for pathogenic NF1 gene variants	55
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	55
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	53
Interpretable machine learning for genomics	50
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	50
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	43
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	42
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	34
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	33
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	33
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	30
Monogenic causes of pigmentary mosaicism	29
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	28
The obesity-related mutation gene on nonalcoholic fatty liver disease	27
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	27
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	26
Hearing loss in Africa: current genetic profile	25

Human organoids for rapid validation of gene variants linked to cochlear malformations