Journal of Human Genetics - Table of Contents alert Volume 59 Issue 11

If you are unable to see the message below, click here to view.

TABLE OF CONTENTS Volume 59, Issue 11 (November 2014) In this issue Commentary Original Articles Short Communication Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe   Advertisement Nature Collections Clinical applications of next-generation sequencing This special Collection highlights the breadth of applications of next-generation sequencing technologies in the clinic and the importance of the insights that are being gained through these methods to improve health. Produced with support from Life Technologies, a brand of Thermo Fisher Scientific.   Commentary Top Study of structural chromosome abnormalities to increase the understanding of human genetic diversity: a commentary on signature of backward replication slippage at the copy number variation junction Keiko Wakui J Hum Genet 2014 59: 591-592; advance online publication, October 9, 2014; 10.1038/jhg.2014.83 Full Text Original Articles Top Mutation analysis of glycine decarboxylase, aminomethyltransferase and glycine cleavage system protein-H genes in 13 unrelated families with glycine encephalopathy Nor Azimah Abdul Azize, Wan Zurinah Wan Ngah, Zulhabri Othman, Norsiah Md Desa, Chen Bee Chin, Zabedah Md Yunus, Anand Mohan, Teh Siao Hean, Syed Zulkifli Syed Zakaria and Ngu Lock-Hock J Hum Genet 2014 59: 593-597; advance online publication, September 18, 2014; 10.1038/jhg.2014.69 Abstract | Full Text Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approaches OPEN Yu Lu, Xueya Zhou, Zhanguo Jin, Jing Cheng, Weidong Shen, Fei Ji, Liyang Liu, Xuegong Zhang, Michael Zhang, Ye Cao, Dongyi Han, KwongWai Choy and Huijun Yuan J Hum Genet 2014 59: 599-607; advance online publication, September 18, 2014; 10.1038/jhg.2014.78 Abstract | Full Text The first case in Asia of 2-methyl-3-hydroxybutyryl-CoA dehydrogenase deficiency (HSD10 disease) with atypical presentation Toshiyuki Fukao, Kazuhisa Akiba, Masahiro Goto, Nobuki Kuwayama, Mikiko Morita, Tomohiro Hori, Yuka Aoyama, Rajaram Venkatesan, Rik Wierenga, Yohsuke Moriyama, Takashi Hashimoto, Nobuteru Usuda, Kei Murayama, Akira Ohtake, Yuki Hasegawa, Yosuke Shigematsu and Yukihiro Hasegawa J Hum Genet 2014 59: 609-614; advance online publication, September 18, 2014; 10.1038/jhg.2014.79 Abstract | Full Text The influence of admixture and consanguinity on population genetic diversity in Middle East Xiong Yang, Suzanne Al-Bustan, Qidi Feng, Wei Guo, Zhiming Ma, Makia Marafie, Sindhu Jacob, Fahd Al-Mulla and Shuhua Xu J Hum Genet 2014 59: 615-622; advance online publication, September 25, 2014; 10.1038/jhg.2014.81 Abstract | Full Text Novel locus for fibrinogen in 3′ region of LEPR gene in island population of Vis (Croatia) Željka Tomas, Matea Zajc Petranović, Tatjana Škarić-Jurić, Ana Barešić, Marijana Peričić Salihović and Nina Smolej Narančić J Hum Genet 2014 59: 623-629; advance online publication, October 9, 2014; 10.1038/jhg.2014.82 Abstract | Full Text Functional characterisation of a novel mutation affecting the catalytic domain of MMP2 in siblings with multicentric osteolysis, nodulosis and arthropathy Jacopo Azzollini, Davide Rovina, Cristina Gervasini, Ilaria Parenti, Alessia Fratoni, Maria Vittoria Cubellis, Amilcare Cerri, Luca Pietrogrande and Lidia Larizza J Hum Genet 2014 59: 631-637; advance online publication, October 2, 2014; 10.1038/jhg.2014.84 Abstract | Full Text Short Communication Top KIF1A mutation in a patient with progressive neurodegeneration Nobuhiko Okamoto, Fuyuki Miya, Tatsuhiko Tsunoda, Keiko Yanagihara, Mitsuhiro Kato, Shinji Saitoh, Mami Yamasaki, Yonehiro Kanemura and Kenjiro Kosaki J Hum Genet 2014 59: 639-641; advance online publication, September 25, 2014; 10.1038/jhg.2014.80 Abstract | Full Text Advertisement Introducing HGV Database  The HGV Database is a fully searchable online database of genome variations published in peer-reviewed Data Reports in Human Genome Variation Search and filter by specific disease, gene, region, population. Try it now   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. 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. Nature Publishing Group | 75 Varick Street, 9th Floor | New York | NY 10013-1917 | USA Nature Publishing Group'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 Brunel Road, Houndmills, Basingstoke, Hampshire RG21 6XS. © 2014 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.