OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 26. 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
Editorial to special issue on Ethics in Genetics	104
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	80
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	79
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	75
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	59
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	54
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	53
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	53
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	52
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	51
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	49
Interpretable machine learning for genomics	48
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	44
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	38
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	38
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	36
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	33
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	33
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	30
The obesity-related mutation gene on nonalcoholic fatty liver disease	29
Monogenic causes of pigmentary mosaicism	29
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	28
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	27
Hearing loss in Africa: current genetic profile	26
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	26

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