Journal of Human Genetics

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 2022-01-01 to 2026-01-01.)
ArticleCitations
Correction: Identification of cytotoxic T cells and their T cell receptor sequences targeting COVID-19 using MHC class I-binding peptides140
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study110
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases100
GPD1 deficiency—a rare, overlooked cause of liver disease40
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma39
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns38
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer35
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites32
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport31
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies26
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases24
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China22
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review19
Acknowledgment to the reviewers in 202418
Expanding genetic and clinical spectra of β-tubulinopathies: A Korean study16
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis16
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