OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 20. 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 2022-06-01 to 2026-06-01.)

Article	Citations
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	100
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	74
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	37
Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases)	35
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	34
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	32
Partially connected neural networks for complex trait prediction: application to human height	31
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	31
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA	29
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	29
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	29
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	28
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study	28
Contrasting ancestry patterns inferred from Y chromosome and mitochondrial DNA in Nanjing people from southwestern China	27
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	26
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	25
The obesity-related mutation gene on nonalcoholic fatty liver disease	25
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	22
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	21
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	21
Monogenic inflammatory bowel disease-genetic variants, functional mechanisms and personalised medicine in clinical practice	20
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	20
Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur	20
Leveraging molecular quantitative trait loci to comprehend complex diseases/traits from the omics perspective	20
Novel genotype–phenotype correlations, differential cerebellar allele-specific methylation, and a common origin of the (ATTTC)n insertion in spinocerebellar ataxia type 37	20