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 2021-08-01 to 2025-08-01.)

Article	Citations
Editorial to special issue on Ethics in Genetics	101
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	77
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	76
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	67
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	67
An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia	57
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	52
Interpretable machine learning for genomics	52
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	51
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	49
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	48
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	48
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus	47
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	44
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	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
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	36
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	35
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	35
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	32
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	29
The natural history of OTOF-related auditory neuropathy spectrum disorders: a multicenter study	28
Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys	28
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	27

The fetus in the age of the genome	26
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	26
Monogenic causes of pigmentary mosaicism	26