Journal of Human Genetics - Table of Contents alert Volume 63 Issue 9

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TABLE OF CONTENTS Volume 63, Issue 9 In this issue Comment Article Brief Communication Also new AOP   Comment Nearing saturation of cancer driver gene discovery David Hsiehchen & Antony Hsieh Journal of Human Genetics 2018 63 :941 - 943; June 15, 2018; 10.1038/s10038-018-0481-4   Abstract | Full Text Article Robust imaging and gene delivery to study human lymphoblastoid cell lines Lachlan A. Jolly, Ying Sun, Renée Carroll, Claire C. Homan & Jozef Gecz Journal of Human Genetics 2018 63 :945 - 955; June 20, 2018; 10.1038/s10038-018-0483-2   Abstract | Full Text A novel homozygous missense mutation in the SH3-binding motif of STAMBP causing microcephaly-capillary malformation syndrome Ikumi Hori, Fuyuki Miya, Yutaka Negishi, Ayako Hattori, Naoki Ando et al. Journal of Human Genetics 2018 63 :957 - 963; June 15, 2018; 10.1038/s10038-018-0482-3   Abstract | Full Text PTCH1 isoform 1b is the major transcript in the development of basal cell nevus syndrome Robbert-Jan C. A. M. Gielen, Marieke G. H. C. Reinders, Hannele K. Koillinen, Aimée D. C. Paulussen, Klara Mosterd et al. Journal of Human Genetics 2018 63 :965 - 969; June 21, 2018; 10.1038/s10038-018-0485-0   Abstract | Full Text The genotypic and phenotypic spectrum of PARS2-related infantile-onset encephalopathy Xiaomeng Yin, Beisha Tang, Xiao Mao, Jinxin Peng, Sheng Zeng et al. Journal of Human Genetics 2018 63 :971 - 980; June 18, 2018; 10.1038/s10038-018-0478-z   Abstract | Full Text A repeat-primed PCR assay for pentanucleotide repeat alleles in spinocerebellar ataxia type 37 Joana Rocha Loureiro, Cláudia Louro Oliveira, Jorge Sequeiros & Isabel Silveira Journal of Human Genetics 2018 63 :981 - 987; June 11, 2018; 10.1038/s10038-018-0474-3   Abstract | Full Text Genetic background of Japanese patients with pediatric hypertrophic and restrictive cardiomyopathy Takeharu Hayashi, Kousuke Tanimoto, Kayoko Hirayama-Yamada, Etsuko Tsuda, Mamoru Ayusawa et al. Journal of Human Genetics 2018 63 :989 - 996; June 15, 2018; 10.1038/s10038-018-0479-y   Abstract | Full Text Brief Communication A KAT6A variant in a family with autosomal dominantly inherited microcephaly and developmental delay Joanne Trinh, Irina Hüning, Zafer Yüksel, Nadja Baalmann, Sophie Imhoff et al. Journal of Human Genetics 2018 63 :997 - 1001; June 13, 2018; 10.1038/s10038-018-0469-0   Abstract | Full Text Further expansion of the mutational spectrum of spondylo-meta-epiphyseal dysplasia with abnormal calcification Gizem Ürel-Demir, Pelin Ozlem Simsek-Kiper, Özlem Akgün-Doğan, Rahşan Göçmen, Zheng Wang et al. Journal of Human Genetics 2018 63 :1003 - 1007; June 08, 2018; 10.1038/s10038-018-0473-4   Abstract | Full Text Novel mutations in the ALDH18A1 gene in complicated hereditary spastic paraplegia with cerebellar ataxia and cognitive impairment Kishin Koh, Hiroyuki Ishiura, Minako Beppu, Haruo Shimazaki, Yuta Ichinose et al. Journal of Human Genetics 2018 63 :1009 - 1013; June 18, 2018; 10.1038/s10038-018-0477-0   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. Click here to sign up. Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Journal of Human Genetics. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. For other enquiries, please contact our customer feedback department. Springer Nature |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA Springer Nature's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW. Nature is part of Springer Nature. © 2018 Springer Nature Limited. All rights reserved.