OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Human Genetics is 25. 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 2020-03-01 to 2024-03-01.)

Article	Citations
The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease	758133037
SARS-CoV-2 genomic variations associated with mortality rate of COVID-19	281
Bioinformatic prediction of potential T cell epitopes for SARS-Cov-2	114
Unique roles of rare variants in the genetics of complex diseases in humans	71
A review of UMAP in population genetics	71
Genome-wide meta-analysis identifies novel loci associated with age-related macular degeneration	57
Cancer-associated miRNAs and their therapeutic potential	49
Variation in the SERPINA6/SERPINA1 locus alters morning plasma cortisol, hepatic corticosteroid binding globulin expression, gene expression in peripheral tissues, and risk of cardiovascular disease	38
Interpretation of omics data analyses	37
Molecular genetics of Parkinson’s disease: Contributions and global trends	37
Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy	36
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotype	34
The relationship between BRCA-associated breast cancer and age factors: an analysis of the Japanese HBOC consortium database	31
Identification of epigenetic interactions between microRNA and DNA methylation associated with polycystic ovarian syndrome	31
RFC1 repeat expansion in Japanese patients with late-onset cerebellar ataxia	30
The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification	29
Deep neural network improves the estimation of polygenic risk scores for breast cancer	29
RNA sequencing-based microRNA expression signature in esophageal squamous cell carcinoma: oncogenic targets by antitumor miR-143-5p and miR-143-3p regulation	28
A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham–Stout disease	28
Polygenic risk score as clinical utility in psychiatry: a clinical viewpoint	28
Practical guide for managing large-scale human genome data in research	27
Multi-omics study for interpretation of genome-wide association study	27
Association of an IGHV3-66 gene variant with Kawasaki disease	26
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype–genotype correlation	25
Single-cell genomics to understand disease pathogenesis	25