OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Human Genetics is 19. 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
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	101
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	86
A patient with Silver-Russell syndrome with multilocus imprinting disturbance, and Schimke immuno-osseous dysplasia unmasked by uniparental isodisomy of chromosome 2	84
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	37
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	33
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	32
GPD1 deficiency—a rare, overlooked cause of liver disease	31
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	31
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	29
Cancer-associated miRNAs and their therapeutic potential	27
Secondary findings in 622 Turkish clinical exome sequencing data	26
Looking back: three key lessons from 20 years of shaping Japanese genome research regulations	25
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	25
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	24
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	23
Acknowledgment to the reviewers in 2024	23
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	22
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	21
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	19
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	19