Journal of Human Genetics - Table of Contents alert Volume 58 Issue 9

TABLE OF CONTENTS Volume 58, Issue 9 (September 2013) In this issue Commentary Review Original Articles Correspondence Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Special section on epigenomics The special section on epigenomics in the July 2013 issue of Journal of Human Genetics features review and original articles by top-level epigenetic researchers, and covers various topics of epigenetic research, both basic and clinical.  Take advantage of FREE access to select articles today!  Commentary Top CEBPE promoter SNPs, caught red handed? A commentary on identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene Heng Xu and Jun J Yang J Hum Genet 2013 58: 571-572; advance online publication, August 1, 2013; 10.1038/jhg.2013.81 Full Text Review Top The SCN1A gene variants and epileptic encephalopathies Rashmi Parihar and Subramaniam Ganesh J Hum Genet 2013 58: 573-580; advance online publication, July 25, 2013; 10.1038/jhg.2013.77 Abstract | Full Text Original Articles Top A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene Raffaella Brugnoni, Dimos Kapetis, Paola Imbrici, Mauro Pessia, Eleonora Canioni, Lara Colleoni, Nicole Kerlero de Rosbo, Lucia Morandi, Paola Cudia, Nasrin Gashemi, Pia Bernasconi, Jean-Francois Desaphy, Diana Conte and Renato Mantegazza J Hum Genet 2013 58: 581-587; advance online publication, June 6, 2013; 10.1038/jhg.2013.58 Abstract | Full Text A replication study for three nephrolithiasis loci at 5q35.3, 7p14.3 and 13q14.1 in the Japanese population Takahiro Yasui, Atsushi Okada, Yuji Urabe, Masayuki Usami, Kentaro Mizuno, Yasue Kubota, Keiichi Tozawa, Shoichi Sasaki, Yoshihito Higashi, Yoshikazu Sato, Michiaki Kubo, Yusuke Nakamura, Koichi Matsuda and Kenjiro Kohri J Hum Genet 2013 58: 588-593; advance online publication, May 30, 2013; 10.1038/jhg.2013.59 Abstract | Full Text A common and two novel GBA mutations in Thai patients with Gaucher disease Rachaneekorn Tammachote, Siraprapa Tongkobpetch, Chalurmpon Srichomthong, Kampon Phipatthanananti, Suthipong Pungkanon, Duangrurdee Wattanasirichaigoon, Kanya Suphapeetiporn and Vorasuk Shotelersuk J Hum Genet 2013 58: 594-599; advance online publication, May 30, 2013; 10.1038/jhg.2013.60 Abstract | Full Text Identification of functional nucleotide and haplotype variants in the promoter of the CEBPE gene Hyunju Ryoo, Minyoung Kong, Younyoung Kim and Chaeyoung Lee J Hum Genet 2013 58: 600-603; advance online publication, May 30, 2013; 10.1038/jhg.2013.62 Abstract | Full Text Quantitative analysis of methylation status at 11p15 and 7q21 for the genetic diagnosis of Beckwith–Wiedemann syndrome and Silver–Russell syndrome Beom Hee Lee, Gu-Hwan Kim, Tae Jeong Oh, Joo Hyun Kim, Jin-Joo Lee, Seung Hoon Choi, Joo Yeon Lee, Jae-Min Kim, In Hee Choi, Yoo-Mi Kim, Jin-Ho Choi and Han-Wook Yoo J Hum Genet 2013 58: 604-610; advance online publication, June 27, 2013; 10.1038/jhg.2013.67 Abstract | Full Text Molecular pathology of Sandhoff disease with p.Arg505Gln in HEXB: application of simulation analysis Naoko Yasui, Yutaka Takaoka, Hisahide Nishio, Dian K Nurputra, Kenji Sekiguchi, Hirotoshi Hamaguchi, Hisatomo Kowa, Eiichi Maeda, Aki Sugano, Kenji Miura, Toshiyuki Sakaeda, Fumio Kanda and Tatsushi Toda J Hum Genet 2013 58: 611-617; advance online publication, June 13, 2013; 10.1038/jhg.2013.68 Abstract | Full Text Functional analysis of BRCA1 missense variants of uncertain significance in Japanese breast cancer families Shogo Kawaku, Rieko Sato, Hao Song, Yuko Bando, Tadao Arinami and Emiko Noguchi J Hum Genet 2013 58: 618-621; advance online publication, July 11, 2013; 10.1038/jhg.2013.71 Abstract | Full Text Complete genome sequencing and variant analysis of a Pakistani individual Muhammad Kamran Azim, Chuanchun Yang, Zhixiang Yan, Muhammad Iqbal Choudhary, Asifullah Khan, Xiao Sun, Ran Li, Huma Asif, Sana Sharif and Yong Zhang J Hum Genet 2013 58: 622-626; advance online publication, July 11, 2013; 10.1038/jhg.2013.72 Abstract | Full Text Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors Jose R Sandoval, Alberto Salazar-Granara, Oscar Acosta, Wilder Castillo-Herrera, Ricardo Fujita, Sergio DJ Pena and Fabricio R Santos J Hum Genet 2013 58: 627-634; advance online publication, July 18, 2013; 10.1038/jhg.2013.73 Abstract | Full Text Effects of a polymorphism in the GFAP promoter on the age of onset and ambulatory disability in late-onset Alexander disease Tomokatsu Yoshida, Ikuko Mizuta, Kozo Saito, Ryo Ohara, Hiroshi Kurisaki, Keiko Ohnari, Yuichi Riku, Yuichi Hayashi, Hidekazu Suzuki, Hiroaki Shii, Yasuhiro Fujiwara, Tadahiro Yonezu, Akiko Nagaishi and Masanori Nakagawa J Hum Genet 2013 58: 635-638; advance online publication, August 1, 2013; 10.1038/jhg.2013.83 Abstract | Full Text Correspondence Top New developments in medical education for the realization of next-generation personalized medicine: concept and design of a medical education and training program through the genomic cohort study Hiroto Narimatsu, Chifumi Kitanaka, Isao Kubota, Shinya Sato, Yoshiyuki Ueno, Takeo Kato, Akira Fukao, Hidetoshi Yamashita, Takamasa Kayama and On behalf of the Yamagata University Medical Education and Training Program through the Genomic Cohort Study J Hum Genet 2013 58: 639-640; advance online publication, June 13, 2013; 10.1038/jhg.2013.69 Full Text Corrigendum Top Phenotypic variability of CLDN14 mutations causing DFNB29 hearing loss in the Pakistani population Zil-e-Huma Bashir, Noreen Latief, Inna A Belyantseva, Farheena Iqbal, Sheikh Amer Riazuddin, Shaheen N Khan, Thomas B Friedman, Sheikh Riazuddin and Saima Riazuddin J Hum Genet 2013 58: 641; 10.1038/jhg.2013.85 Full Text Advertisement Submit to Journal of Human Genetics and benefit from: - Open Access option for wider reach - On average, less than 20 days to the first decision - Wide exposure and article visibility via nature.com - Listing with major abstracting and indexing services http://mts-jhg.nature.com/cgi-bin/main.plex   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. © 2013 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.