OOIR: Observatory of International Research

Papers

(The H4-Index of Human Genetics is 21. 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 2022-08-01 to 2026-08-01.)

Article	Citations
Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases)	112
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes	78
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	40
Partially connected neural networks for complex trait prediction: application to human height	38
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders	37
Whole exome sequencing improves genetic diagnosis of fetal clubfoot	37
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA	34
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study	33
The 2023 clinical laboratory genetics workforce in the United States: trends, challenges, and evolving practices	32
Contrasting ancestry patterns inferred from Y chromosome and mitochondrial DNA in Nanjing people from southwestern China	32
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction	30
Blending borders: reconstructing the genetic history of the Sindhi population	30
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search	30
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach	29
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg19	28
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome	27
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals	27
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection	22
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity	22
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study	22
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species	21
De novo mutations in the BMP signaling pathway in lambdoid craniosynostosis	21
The obesity-related mutation gene on nonalcoholic fatty liver disease	21
Tracing the genetic legacy of Altaic-speaking populations suggested long-distance migration and multi-source admixture shape the genomic diversity of Xibe and Daur	21