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Journal of Human Genetics|November 24, 2017
Updated summary of genome editing technology in human cultured cells linked to human genetics studiesTatsuo Miyamoto, Silvia Natsuko Akutsu, Shinya MatsuuraJournal of Human Genetics|November 24, 2017
Phenotypic expression of a novel desmin gene mutation: hypertrophic cardiomyopathy followed by systemic myopathyHaruhito Harada, Takeharu Hayashi, Hirofumi Nishi, et al.Journal of Human Genetics|March 2, 2018
Integrative functional analysis of super enhancer SNPs for coronary artery diseaseJuexiao Gong, Chuan Qiu, Dan Huang, et al.Journal of Human Genetics|December 4, 2018
Whole-exome sequencing identifies a novel CCDC151 mutation, c.325G>T (p.E109X), in a patient with primary ciliary dyskinesia and situs inversusWeizhi Zhang, Dongping Li, Shijie Wei, et al.Journal of Human Genetics|March 22, 2018
Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese populationShomi Oka, Takashi Higuchi, Hiroshi Furukawa, et al.Journal of Human Genetics|March 22, 2018
A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese familyYuyuan Deng, Zhijie Niu, LiangLiang Fan, et al.Journal of Human Genetics|January 9, 2019
A rare deep intronic mutation of PKHD1 gene, c.8798-459 C > A, causes autosomal recessive polycystic kidney disease by pseudoexon activationJing Chen, Na Ma, Xiaomeng Zhao, et al.Journal of Human Genetics|January 12, 2019
Treatment of two mitochondrial disease patients with a combination of febuxostat and inosine that enhances cellular ATPNaoyuki Kamatani, Akifumi Kushiyama, Licht Toyo-Oka, et al.Journal of Human Genetics|December 6, 2018
Further evidence for loss-of-function mutations in the CEACAM16 gene causing nonsyndromic autosomal recessive hearing loss in humansAlex Marcel Moreira Dias, Karina Lezirovitz, Fernanda Stávale Nicastro, et al.Journal of Human Genetics|November 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patientsAdila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, et al.Pageof 353