OOIR: Observatory of International Research

Papers

(The H4-Index of Journal of Human Genetics is 17. 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 2021-08-01 to 2025-08-01.)

Article	Citations
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides	114
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites	99
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases	53
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases	34
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study	34
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer	32
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma	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
Novel variants in the LRP4 underlying Cenani-Lenz Syndactyly syndrome	29
Acknowledgment to the reviewers in 2024	27
Xq27.1 palindrome mediated interchromosomal insertion likely causes familial congenital bilateral laryngeal abductor paralysis (Plott syndrome)	22
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability	22
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China	22
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family	21
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review	20
Joint analysis of functionally related genes yields further candidates associated with Tetralogy of Fallot	18