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Journal of Human Genetics|June 12, 2021
The rare rs769301934 variant in NHLRC1 is a common cause of Lafora disease in TurkeyGaren Haryanyan, Ozkan Ozdemir, Kemal Tutkavul, 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.Journal of Human Genetics|June 10, 2021
Structural and numerical Y chromosomal variations in elderly men identified through multiplex ligation-dependent probe amplificationYasuko Ogiwara, Mami Miyado, Erina Suzuki, et al.Journal of Human Genetics|July 14, 2021
Identification of novel single-nucleotide variants altering RNA splicing of PKD1 and PKD2Shengyu Xie, Xiangyou Leng, Dachang Tao, et al.Journal of Human Genetics|October 26, 2020
Evaluation of the causal effects of blood lipid levels on gout with summary level GWAS data: two-sample Mendelian randomization and mediation analysisXinghao Yu, Ting Wang, Shuiping Huang, et al.Journal of Human Genetics|February 9, 2020
Erratum to: Mutation analysis of the GNE gene in Korean patients with distal myopathy with rimmed vacuolesByoung Joon Kim, Chang-Seok Ki, Jong-Won Kim, et al.Journal of Human Genetics|February 9, 2020
Erratum to: Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosaDaisuke Sawamura, Maki Goto, Kana Yasukawa, et al.Journal of Human Genetics|July 29, 2021
Novel HOXD13 variants in syndactyly type 1b and type 1c, and a new spectrum of TP63-related disordersRashmi Patel, Subodh Kumar Singh, Visweswar Bhattacharya, et al.Journal of Human Genetics|May 23, 2022
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guidelineJee Ah Kim, Won Kyung Kwon, Jong-Won Kim, et al.Journal of Human Genetics|May 23, 2022
Promoter hypermethylation of GALR1 acts as an early epigenetic susceptibility event in colorectal carcinogenesisSimeng Gu, Sangni Qian, Shujuan Lin, et al.Pageof 351