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Journal of Human Genetics|April 2, 2025
Profiling of runs of homozygosity from whole-genome sequence data in Japanese biobankAye Ko Ko Minn, Motomichi Matsuzaki, Akira Narita, et al.Journal of Human Genetics|March 31, 2025
A novel case of autosomal-dominant cutis laxa caused by a de novo likely pathogenic variant in ALDH18A1: case report and literature reviewFiroz Ahmad, Pradnya Gadgil, Noopur Navandar, et al.Journal of Human Genetics|May 19, 2025
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencingEduardo Perrone, Luiza Virmond, Antonio Victor Campos Coelho, et al.Journal of Human Genetics|June 11, 2025
Microcephaly-related global developmental delay caused by a pathogenic METTL5 splicing mutation in a Chinese familyXiaoyan Zhou, Congcong Teng, Wenjing Zhao, et al.Journal of Human Genetics|May 12, 2025
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician's perspectiveXiaojiao Wu, Jiancheng Jiao, Weicong Pu, et al.Journal of Human Genetics|August 21, 2025
Early lipid genetics: identification of common and rare genetic variants for lipid traits in Indian adolescentsJanaki M Nair, Analabha Basu, Nikhil Tandon, et al.Journal of Human Genetics|August 21, 2025
A Japanese familial spastic paraplegia associated with a missense UBQLN2 variantKazuki Watanabe, Tatsuya Ema, Kenji Shimizu, et al.Journal of Human Genetics|October 1, 2003
The apolipoprotein CIII T2854G variants are associated with postprandial triacylglycerol concentrations in normolipidemic Korean menSang-Koo Woo, Hyun-Sik KangJournal of Human Genetics|May 17, 2013
Impact of polymorphisms in drug pathway genes on disease-free survival in adults with acute myeloid leukemiaSook Wah Yee, Joel A Mefford, Natasha Singh, et al.Journal of Human Genetics|May 17, 2013
Newborn screening for Fabry disease in Japan: prevalence and genotypes of Fabry disease in a pilot studyTakahito Inoue, Kiyoko Hattori, Kenji Ihara, et al.Pageof 352