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 2022-08-01 to 2026-08-01.)
ArticleCitations
Utility of tissue-specific gene expression scores for gene prioritization in Mendelian diseases158
Loss-of-function variant of SLC27A3 causes mitochondrial dysfunction and a metabolic neurodevelopmental disorder via impaired fatty acid transport42
From benign to pathogenic variants and vice versa: pyrimidine transitions at position -3 of TAG and CAG 3' splice sites32
Imaging flow cytometry-based multiplex FISH for three IGH translocations in multiple myeloma30
Hidden SVA retrotransposon insertion in BRCA1 revealed by nanopore targeted sequencing causes hereditary breast and ovarian cancer27
Ectopic co-expression of canonical and LINE1 and THE1A-exonizing IL23R transcripts in sarcoid myopathy25
GPD1 deficiency—a rare, overlooked cause of liver disease18
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases18
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study18
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapies17
Identification of small-sized intrachromosomal segments at the ends of INV–DUP–DEL patterns17
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review16
Acknowledgment to the reviewers in 202416
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese family15
Preimplantation genetic testing for inborn errors of metabolism: observations from a reproductive genetic laboratory in China15
Psychological distress and cancer worry in unaffected relatives undergoing cascade testing with multigene panel testing15
Identification of an IL17RC missense variant in a Chinese family with multiple osteochondromas and ankylosing spondylitis15
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