OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Human Genetics is 16. 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 2021-09-01 to 2025-09-01.)

Article	Citations
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	120
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	105
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	60
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	34
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns	33
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	33
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	32
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer	31
GPD1 deficiency—a rare, overlooked cause of liver disease	30
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	27
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	22
Acknowledgment to the reviewers in 2024	22
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis	22
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	21
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	20
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	18
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	16