Journal of Human Genetics - Table of Contents alert Volume 63 Issue 6

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Advertisement nature.com webcasts Nature Research Custom presents a webcast on: MicroRNAs in CSF as prodromal biomarkers for Huntington's disease Date: Tuesday, May 29, 2018 Join our webcast to learn about the fundamental characteristics of microRNAs and why Huntington's disease may serve as a disease model for the assessment of biomarkers. This webcast has been produced on behalf of the sponsor who retains sole responsibility for content  Register for FREE  Sponsored by: HTG Molecular    TABLE OF CONTENTS Volume 63, Issue 6 In this issue Article Brief Communication Correspondence Also new AOP   Article Unfolded protein response is activated in Krabbe disease in a manner dependent on the mutation type Kaori Irahara-Miyana, Takanobu Otomo, Hidehito Kondo, Mohammad Arif Hossain, Keiichi Ozono et al. Journal of Human Genetics 2018 63 :699 - 706; April 03, 2018; 10.1038/s10038-018-0445-8   Abstract | Full Text QIL1-dependent assembly of MICOS complex–lethal mutation in C19ORF70 resulting in liver disease and severe neurological retardation J. Gödiker, M. Grüneberg, I. DuChesne, J. Reunert, S. Rust et al. Journal of Human Genetics 2018 63 :707 - 716; April 04, 2018; 10.1038/s10038-018-0442-y   Abstract | Full Text High-risk screening for Gaucher disease in patients with neurological symptoms Ken Momosaki, Jun Kido, Shirou Matsumoto, Shinichiro Yoshida, Atsuko Takei et al. Journal of Human Genetics 2018 63 :717 - 721; March 30, 2018; 10.1038/s10038-018-0438-7   Abstract | Full Text A novel mutation in the SMPX gene associated with X-linked nonsyndromic sensorineural hearing loss in a Chinese family Yuyuan Deng, Zhijie Niu, LiangLiang Fan, Jie Ling, Hongsheng Chen et al. Journal of Human Genetics 2018 63 :723 - 730; March 20, 2018; 10.1038/s10038-018-0443-x   Abstract | Full Text Common variant rs11191548 near the CYP17A1 gene is associated with hypertension and the serum 25(OH) D levels in Han Chinese Ning Zhang, Jian Jia, Qiuju Ding, Huimei Chen, Xiaoman Ye et al. Journal of Human Genetics 2018 63 :731 - 737; March 19, 2018; 10.1038/s10038-018-0435-x   Abstract | Full Text Association of a single nucleotide polymorphism in TNIP1 with type-1 autoimmune hepatitis in the Japanese population Shomi Oka, Takashi Higuchi, Hiroshi Furukawa, Minoru Nakamura, Atsumasa Komori et al. Journal of Human Genetics 2018 63 :739 - 744; March 20, 2018; 10.1038/s10038-018-0440-0   Abstract | Full Text Brief Communication Survey on the perception of germline genome editing among the general public in Japan Masato Uchiyama, Akiko Nagai & Kaori Muto Journal of Human Genetics 2018 63 :745 - 748; March 15, 2018; 10.1038/s10038-018-0430-2   Abstract | Full Text A case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy Sato Suzuki-Muromoto, Keisuke Wakusawa, Takuya Miyabayashi, Ryo Sato, Yukimune Okubo et al. Journal of Human Genetics 2018 63 :749 - 753; March 19, 2018; 10.1038/s10038-018-0432-0   Abstract | Full Text Functional splicing analysis in an infantile case of atypical hemolytic uremic syndrome caused by digenic mutations in C3 and MCP genes Tomohiko Yamamura, Kandai Nozu, Hiroaki Ueda, Rika Fujimaru, Ryutaro Hisatomi et al. Journal of Human Genetics 2018 63 :755 - 759; March 19, 2018; 10.1038/s10038-018-0436-9   Abstract | Full Text Clinical and molecular consequences of exon 78 deletion in DMD gene Monica Traverso, Stefania Assereto, Serena Baratto, Michele Iacomino, Marina Pedemonte et al. Journal of Human Genetics 2018 63 :761 - 764; March 19, 2018; 10.1038/s10038-018-0439-6   Abstract | Full Text A genome-wide association study on photic sneeze syndrome in a Japanese population Daimei Sasayama, Shinya Asano, Shun Nogawa, Shoko Takahashi, Kenji Saito et al. Journal of Human Genetics 2018 63 :765 - 768; March 20, 2018; 10.1038/s10038-018-0441-z   Abstract | Full Text Dysosteosclerosis is also caused by TNFRSF11A mutation Long Guo, Nursel H. Elcioglu, Ozge K. Karalar, Mert O. Topkar, Zheng Wang et al. Journal of Human Genetics 2018 63 :769 - 774; March 22, 2018; 10.1038/s10038-018-0447-6   Abstract | Full Text Correspondence The uncertainty of population relationship and divergence time inferred by the multiple sequentially Markovian coalescent model Xing-Yan Yang, Shan-Shan Dai, He-Qun Liu, Min-Sheng Peng & Ya-Ping Zhang Journal of Human Genetics 2018 63 :775 - 777; March 16, 2018; 10.1038/s10038-018-0424-0   Abstract | Full Text Are CSNK2A1 gene mutations associated with retinal dystrophy? Report of a patient carrier of a novel de novo splice site mutation Davide Colavito, Elda Del Giudice, Chiara Ceccato, Maurizio Dalle Carbonare, Alberta Leon et al. Journal of Human Genetics 2018 63 :779 - 781; March 22, 2018; 10.1038/s10038-018-0434-y   Abstract | Full Text Advertisement Nature Briefing is an essential round-up of science news, opinion and analysis, free in your inbox every weekday. With Nature Briefing, we'll keep you updated on the latest research, so you can focus on yours. 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