TABLE OF CONTENTS
| | | | Volume 62, Issue 6 (June 2017) | | In this issue Original Articles Short Communications
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| | | | Original Articles | Top | | GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and functionWenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan and Tyler Mark Pierson J Hum Genet 2017 62: 589-597; advance online publication, February 23, 2017; 10.1038/jhg.2017.19 Abstract | Full Text | | Clinical diversity caused by novel IGHMBP2 variantsJun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto and Hiroshi Takashima J Hum Genet 2017 62: 599-604; advance online publication, March 9, 2017; 10.1038/jhg.2017.15 Abstract | Full Text | | Subdivisions of haplogroups U and C encompass mitochondrial DNA lineages of Eneolithic–Early Bronze Age Kurgan populations of western North Pontic steppeAlexey G Nikitin, Svetlana Ivanova, Dmytro Kiosak, Jessica Badgerow and Jeff Pashnick J Hum Genet 2017 62: 605-613; advance online publication, February 2, 2017; 10.1038/jhg.2017.12 Abstract | Full Text | | Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivorsJu Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki and Young Keun On J Hum Genet 2017 62: 615-620; advance online publication, February 16, 2017; 10.1038/jhg.2017.8 Abstract | Full Text | | Including non-informative parents in transmission-based association testsHemant Kulkarni and Saurabh Ghosh J Hum Genet 2017 62: 621-629; advance online publication, February 16, 2017; 10.1038/jhg.2017.9 Abstract | Full Text | | Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, MexicoFuzuki Mizuno, Masahiko Kumagai, Kunihiko Kurosaki, Michiko Hayashi, Saburo Sugiyama, Shintaroh Ueda and Li Wang J Hum Genet 2017 62: 631-635; advance online publication, February 16, 2017; 10.1038/jhg.2017.14 Abstract | Full Text | | Mosaic chromosome Y loss and testicular germ cell tumor riskMitchell J Machiela, Casey L Dagnall, Anand Pathak, Jennifer T Loud, Stephen J Chanock, Mark H Greene, Katherine A McGlynn and Douglas R Stewart J Hum Genet 2017 62: 637-640; advance online publication, March 9, 2017; 10.1038/jhg.2017.20 Abstract | Full Text | | Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremorXue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou and Yu-Ping Wang J Hum Genet 2017 62: 641-646; advance online publication, March 16, 2017; 10.1038/jhg.2017.21 Abstract | Full Text | | Short Communications | Top | | Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemiaYu Sun, Guorui Hu, Jihang Luo, Di Fang, Yongguo Yu, Xiang Wang, Jing Chen and Wenjuan Qiu J Hum Genet 2017 62: 647-651; advance online publication, February 2, 2017; 10.1038/jhg.2017.10 Abstract | Full Text | | A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndromeTakehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto and Kazuhiro Haginoya J Hum Genet 2017 62: 653-655; advance online publication, February 2, 2017; 10.1038/jhg.2017.11 Abstract | Full Text | | Prevalence of four Mendelian disorders associated with autism in 2392 affected familiesAvi Saskin, Vanessa Fulginiti, Ashley H Birch and Yannis Trakadis J Hum Genet 2017 62: 657-659; advance online publication, March 9, 2017; 10.1038/jhg.2017.16 Abstract | Full Text | | Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1Priya T Bhola, Taila Hartley, Eric Bareke, Care4Rare Canada Consortium, Kym M Boycott, Sarah M Nikkel and David A Dyment J Hum Genet 2017 62: 661-663; advance online publication, February 23, 2017; 10.1038/jhg.2017.18 Abstract | Full Text | | | | | | | | | | | 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 | | | | | | | | Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Journal of Human Genetics. In order to do so, please purchase a subscription. 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. © 2017 Macmillan Publishers Limited, part of Springer Nature. All Rights Reserved. | | | | |
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