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Journal of Human Genetics|May 16, 2020
Potential causal association of a prolonged PR interval and clinical recurrence of atrial fibrillation after catheter ablation: a Mendelian randomization analysisMyunghee Hong, Inseok Hwang, Hee-Tae Yu, et al.Journal of Human Genetics|January 29, 2023
Genome-wide association study of age at menarche in the Taiwan Biobank suggests NOL4 as a novel associated geneMeng-Che Tsai, Chih-Hui Hsu, Shih-Kai Chu, et al.Journal of Human Genetics|August 15, 2022
Neurofibromatosis type 2 with mild Pierre-Robin sequence showing a heterozygous chromosome 22q12 microdeletion encompassing NF2 and MN1Sonoko Saito, Noriko Ono, Takashi Sasaki, et al.Journal of Human Genetics|September 10, 2021
Novel variants causing megalencephalic leukodystrophy in Sudanese familiesMutaz Amin, Cedric Vignal, Ahlam A A Hamed, et al.Journal of Human Genetics|December 8, 2025
Respiratory complex I deficiency caused by a novel multi-exonic PUS1 deletionJun-Hui Yuan, Yujiro Higuchi, Masahiro Ando, et al.Journal of Human Genetics|January 16, 2026
A new integrated genetic and transcriptomic approach for investigating DUX4 and DUX4CZhaohui Zhuang, Mahoko Takahashi Ueda, Kensuke Yamaguchi, et al.Journal of Human Genetics|January 13, 2026
Maternal copy number variations detected by noninvasive prenatal testing in Japanese womenKaku Masuda, Hiroyuki Mishima, Koh-Ichiro Yoshiura, et al.Journal of Human Genetics|November 8, 2025
Whole-genome sequencing of 3135 individuals representing the genetic diversity of the Japanese populationKoichiro Higasa, Yoichiro Kamatani, Takahisa Kawaguchi, et al.Journal of Human Genetics|October 30, 2025
A comprehensive assessment of pharmacogenomic annotation tools for next-generation sequencing data: an emphasis on cyp2d6 and vietnamese genomic dataThien Khac Nguyen, Cuong Tri Pham, Tham Hoang, et al.Journal of Human Genetics|November 4, 2025
Genome-wide functional annotation and interpretation of splicing variants: toward RNA-targeted therapiesTomonari Awaya, Ryo Kurosawa, Masatoshi HagiwaraPageof 353