Human Genetics

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 2022-05-01 to 2026-05-01.)
ArticleCitations
Editorial to special issue on Ethics in Genetics106
The association between DNA methylation and human height and a prospective model of DNA methylation-based height prediction93
Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome73
Unraveling the significance of AGPAT4 for the pathogenesis of endometriosis via a multi-omics approach35
VARista: a free web platform for streamlined whole-genome variant analysis across T2T, hg38, and hg1935
Genetic landscape of male infertility: chromosomal abnormalities and Y chromosome microdeletions in a Turkish cohort (1 314 Cases)34
Expansion of the complex genotypic and phenotypic spectrum of FGFR2-associated neurocutaneous syndromes32
Genetic landscape in undiagnosed patients with syndromic hearing loss revealed by whole exome sequencing and phenotype similarity search30
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 disease30
Whole exome sequencing improves genetic diagnosis of fetal clubfoot29
Partially connected neural networks for complex trait prediction: application to human height29
Diet as a source of the non-direct genetic effects in metabolic traits: evidence from a family-based GWAS study28
Delineation of the adult phenotype of Coffin–Siris syndrome in 35 individuals28
Age estimation of single nucleotide polymorphisms associated with autoinflammatory diseases in anatolia: insights from ancient and modern DNA28
From first report to clinical trials: a bibliometric overview and visualization of the development of Angelman syndrome research26
Chromosomal structural rearrangements implicate long non-coding RNAs in rare germline disorders24
The obesity-related mutation gene on nonalcoholic fatty liver disease23
Expanding the phenotypic spectrum of PROK2/PROKR2: a recall-by-genotype study23
Integrative analysis of transcriptome and proteome wide association studies prioritized functional genes for obesity23
Recombination map tailored to Native Hawaiians may improve robustness of genomic scans for positive selection22
Histone 3.3-related chromatinopathy: missense variants throughout H3-3A and H3-3B cause a range of functional consequences across species21
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