Journal of Human Genetics - Table of Contents alert Volume 60 Issue 6

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

TABLE OF CONTENTS Volume 60, Issue 6 (June 2015) In this issue Original Articles Short Communication Correspondence Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe   Advertisement Epigenome Roadmap Nature Publishing Group presents an online portal - the Epigenome Roadmap - which collects key research papers from The NIH Roadmap Epigenomics Program, complemented by thematical 'threads' to help the readers mine the wealth of available information. Access the Epigenome Roadmap for FREE at:  nature.com/epigenomeroadmap Produced with exclusive support from Illumina Original Articles Top A splicing mutation of the HMGA2 gene is associated with Silver–Russell syndrome phenotype Agostina De Crescenzo, Valentina Citro, Andrea Freschi, Angela Sparago, Orazio Palumbo, Maria Vittoria Cubellis, Massimo Carella, Pia Castelluccio, Maria Luigia Cavaliere, Flavia Cerrato and Andrea Riccio J Hum Genet 2015 60: 287-293; advance online publication, March 26, 2015; 10.1038/jhg.2015.29 Abstract | Full Text Y chromosome of Aisin Gioro, the imperial house of the Qing dynasty Shi Yan, Harumasa Tachibana, Lan-Hai Wei, Ge Yu, Shao-Qing Wen and Chuan-Chao Wang J Hum Genet 2015 60: 295-298; advance online publication, April 2, 2015; 10.1038/jhg.2015.28 Abstract | Full Text A novel mutation of EYA4 in a large Chinese family with autosomal dominant middle-frequency sensorineural hearing loss by targeted exome sequencing Yi Sun, Zhao Zhang, Jing Cheng, Yu Lu, Chang-Liang Yang, Yan-Yun Luo, Guang Yang, Hui Yang, Li Zhu, Jia Zhou and Hang-Qi Yao J Hum Genet 2015 60: 299-304; advance online publication, March 26, 2015; 10.1038/jhg.2015.19 Abstract | Full Text New splicing mutation in the choline kinase beta (CHKB) gene causing a muscular dystrophy detected by whole-exome sequencing Jorge Oliveira, Luís Negrão, Isabel Fineza, Ricardo Taipa, Manuel Melo-Pires, Ana Maria Fortuna, Ana Rita Gonçalves, Hugo Froufe, Conceição Egas, Rosário Santos and Mário Sousa J Hum Genet 2015 60: 305-312; advance online publication, March 5, 2015; 10.1038/jhg.2015.20 Abstract | Full Text A novel de novo 20q13.32–q13.33 deletion in a 2-year-old child with poor growth, feeding difficulties and low bone mass Meena Balasubramanian, Edward Atack, Kath Smith and Michael James Parker J Hum Genet 2015 60: 313-317; advance online publication, March 12, 2015; 10.1038/jhg.2015.22 Abstract | Full Text Japan PGx Data Science Consortium Database: SNPs and HLA genotype data from 2994 Japanese healthy individuals for pharmacogenomics studies Shigeo Kamitsuji, Takashi Matsuda, Koichi Nishimura, Seiko Endo, Chisa Wada, Kenji Watanabe, Koichi Hasegawa, Haretsugu Hishigaki, Masatoshi Masuda, Yusuke Kuwahara, Katsuki Tsuritani, Kenkichi Sugiura, Tomoko Kubota, Shinji Miyoshi, Kinya Okada, Kazuyuki Nakazono, Yuki Sugaya, Woosung Yang, Taiji Sawamoto, Wataru Uchida, Akira Shinagawa, Tsutomu Fujiwara, Hisaharu Yamada, Koji Suematsu, Naohisa Tsutsui, Naoyuki Kamatani, Shyh-Yuh Liou and the Japan PGx Data Science Consortium (JPDSC) J Hum Genet 2015 60: 319-326; advance online publication, April 9, 2015; 10.1038/jhg.2015.23 Abstract | Full Text Tissue- and case-specific retention of intron 40 in mature dystrophin mRNA Atsushi Nishida, Maki Minegishi, Atsuko Takeuchi, Emma Tabe Eko Niba, Hiroyuki Awano, Tomoko Lee, Kazumoto Iijima, Yasuhiro Takeshima and Masafumi Matsuo J Hum Genet 2015 60: 327-333; advance online publication, April 2, 2015; 10.1038/jhg.2015.24 Abstract | Full Text Older individuals heterozygous for a growth hormone-releasing hormone receptor gene mutation are shorter than normal subjects Manuel H Aguiar-Oliveira, Marco A Cardoso-Filho, Rossana MC Pereira, Carla R P Oliveira, Anita H O Souza, Elenilde G Santos, Viviane C Campos, Eugênia H O Valença, Francielle T de Oliveira, Luiz A Oliveira-Neto, Miburge B Gois-Junior, Alecia A Oliveira-Santos and Roberto Salvatori J Hum Genet 2015 60: 335-338; advance online publication, March 12, 2015; 10.1038/jhg.2015.25 Abstract | Full Text Short Communication Top A novel mutation in EED associated with overgrowth Ana S A Cohen, Beyhan Tuysuz, Yaoqing Shen, Sanjiv K Bhalla, Steven J M Jones and William T Gibson J Hum Genet 2015 60: 339-342; advance online publication, March 19, 2015; 10.1038/jhg.2015.26 Abstract | Full Text Correspondence Top No support for replication of the genetic variants identified by a recent mega-analysis of the treatment response to antidepressants Masakazu Hatano, Masashi Ikeda, Kenji Kondo, Takeo Saito, Ayu Shimasaki, Kosei Esaki, Wakako Umene-Nakano, Reiji Yoshimura, Jun Nakamura, Norio Ozaki and Nakao Iwata J Hum Genet 2015 60: 343-344; advance online publication, March 5, 2015; 10.1038/jhg.2015.21 Full Text Corrigendum Top Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells Thunyaporn Surapornsawasd, Takuya Ogawa, Michiko Tsuji and Keiji Moriyama J Hum Genet 2015 60: 345; 10.1038/jhg.2015.41 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 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. © 2015 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.