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Journal of Human Genetics|November 5, 2025
Genetic disruption of satellite cell function underlying congenital myopathiesShinichiro HayashiJournal of Human Genetics|September 25, 2025
Perinatal outcomes of fetal CNVs detected by genome-wide non-invasive prenatal testing in JapanYuka Yamashita, Nahoko Shirato, Tatsuko Ishii, et al.Journal of Human Genetics|October 15, 2025
NOL10 variant disrupts ribosome biogenesis and underlies hippocampal sclerosisAbhishek Kumar, Vishal Gaurav, Yogendra Pratap Mathuria, et al.Journal of Human Genetics|September 16, 2025
Evidence of maternal inheritance of Nizon-Isidor syndrome in an individual with GAMT and TNFRSF13B sequence variantsDibyendu Dutta, Jennifer Black, Daniela Macaya, et al.Journal of Human Genetics|August 6, 2025
Novel glycan-related biomarker discovery by total glycomic and focused protein glycomic analysesHisatoshi Hanamatsu, Goki Suda, Masatsugu Ohara, et al.Journal of Human Genetics|June 4, 2025
The prevalence of laterality defects in patients with congenital heart diseaseXiao-Hui Xie, Heng Gu, Zhuang-Zhuang Yuan, et al.Journal of Human Genetics|May 2, 2025
Autism and intellectual disability due to a novel gain-of-function mutation in UBE3AAnna M Gunelson, Kwang-Soo Kim, Connolly G Steigerwald, et al.Journal of Human Genetics|October 24, 2025
Tetralogy of Fallot and craniosynostosis - differential manifestation in a familial case of CHDED syndrome caused by novel pathogenic PRKD1 variantPrachi Sandeep Oza, Anusha Uttarilli, K T Shreya Parthasarathi, et al.Journal of Human Genetics|October 19, 2025
Germline or somatic mutations in genes encoding microRNAs as biomarkers predicting the risk of adult T-cell leukemia/lymphomaShimon Nakashima, Masataka Nakano, Tatsuki Fukami, et al.Journal of Human Genetics|September 9, 2025
Germline pathogenic variants detected by GenMineTOP: insight from a nationwide tumor/normal paired comprehensive genomic profiling test, in JapanEri Habano, Miho Ogawa, Kousuke Watanabe, et al.Pageof 353