Journal of Human Genetics

Papers
(The H4-Index of Journal of Human Genetics is 15. 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 2022-05-01 to 2026-05-01.)
ArticleCitations
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases156
GPD1 deficiency—a rare, overlooked cause of liver disease130
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites116
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy53
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport43
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies40
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns35
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer29
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma27
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases25
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study24
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review17
Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing17
Acknowledgment to the reviewers in 202416
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family16
Novel compound heterozygous ABCA2 variants cause IDPOGSA, a variable phenotypic syndrome with intellectual disability15
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis15
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