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The Journal of Clinical Investigation|June 1, 2026
Homozygous SGCB splice-site variant causes isolated dilated cardiomyopathy through sarcoglycan complex destabilization in East AsiansFangfang Li, Haruki Shinomiya, Yuki Kuramoto, et al.Human Genome Variation|June 27, 2019
3.5KJPNv2: an allele frequency panel of 3552 Japanese individuals including the X chromosomeShu Tadaka, Fumiki Katsuoka, Masao Ueki, et al.BMC Genomics|August 12, 2014
Validation of multiple single nucleotide variation calls by additional exome analysis with a semiconductor sequencer to supplement data of whole-genome sequencing of a human populationIkuko N Motoike, Mitsuyo Matsumoto, Inaho Danjoh, et al.Proceedings of the National Academy of Sciences of the United States of America|February 6, 2014
Transcriptome analysis of distinct mouse strains reveals kinesin light chain-1 splicing as an amyloid-β accumulation modifierTakashi Morihara, Noriyuki Hayashi, Mikiko Yokokoji, et al.Journal of Human Genetics|December 2, 2017
Evaluation of reported pathogenic variants and their frequencies in a Japanese population based on a whole-genome reference panel of 2049 individualsYumi Yamaguchi-Kabata, Jun Yasuda, Osamu Tanabe, et al.Journal of Human Genetics|January 17, 2025
Returning genetic risk information for hereditary cancers to participants in a population-based cohort study in JapanKinuko Ohneda, Yoichi Suzuki, Yohei Hamanaka, et al.Nature Communications|August 22, 2015
Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individualsMasao Nagasaki, Jun Yasuda, Fumiki Katsuoka, et al.Scientific Reports|August 17, 2016
The structural origin of metabolic quantitative diversitySeizo Koshiba, Ikuko Motoike, Kaname Kojima, et al.Journal of Human Genetics|July 8, 2021
The return of individual genomic results to research participants: design and pilot study of Tohoku Medical Megabank ProjectHiroshi Kawame, Akimune Fukushima, Nobuo Fuse, et al.Plos Genetics|July 9, 2011
Identification of nine novel loci associated with white blood cell subtypes in a Japanese populationYukinori Okada, Tomomitsu Hirota, Yoichiro Kamatani, et al.Pageof 10