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 2021-06-01 to 2025-06-01.)

Article	Citations
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	106
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	90
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	89
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	42
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	34
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	32
GPD1 deficiency—a rare, overlooked cause of liver disease	31
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	31
Cancer-associated miRNAs and their therapeutic potential	30
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	29
Acknowledgment to the reviewers in 2024	28
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	26
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	25
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	25
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	23
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	22
Current status and issues related to secondary findings in the first public insurance covered tumor genomic profiling in Japan: multi-site questionnaire survey	21
Evidence for nonhomologous meiotic coorientation in man	20
Biallelic missense CEP55 variants cause prenatal MARCH syndrome	19
The genetic architecture of age at menarche and its causal effects on other traits	19