OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 27. 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
Editorial to special issue on Ethics in Genetics	91
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	84
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	69
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	69
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	65
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research	61
Complete lung agenesis caused by complex genomic rearrangements with neo-TAD formation at the SHH locus	53
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	49
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	48
An ethical analysis of divergent clinical approaches to the application of genetic testing for autism and schizophrenia	48
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	48
New insights into Perrault syndrome, a clinically and genetically heterogeneous disorder	46
Interpretable machine learning for genomics	45
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	45
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	42
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	41
Missense and truncating variants in CHD5 in a dominant neurodevelopmental disorder with intellectual disability, behavioral disturbances, and epilepsy	37
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	35
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	34
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	34
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	34
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	34
Correction to: Novel loci and mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys	31
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	31
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	30

The obesity-related mutation gene on nonalcoholic fatty liver disease	30
The fetus in the age of the genome	27
Clinical implementation of drug metabolizing gene-based therapeutic interventions worldwide	27
Monogenic causes of pigmentary mosaicism	27