Journal of Human Genetics - Table of Contents alert Volume 59 Issue 9

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TABLE OF CONTENTS Volume 59, Issue 9 (September 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 Human Genome Variation is launched! Nature Publishing Group and the Japan Society of Human Genetics are delighted to announce that Human Genome Variation has published its first articles and has been fully launched on nature.com. PUBLISH, SHARE, UTILIZE human genome data with Human Genome Variation. Learn more and register for e-alerts at http://www.nature.com/hgv   Commentary Top A commentary on exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome Liangdan Sun J Hum Genet 2014 59: 479; advance online publication, August 7, 2014; 10.1038/jhg.2014.68 Full Text Original Articles Top Influence of MILR1 promoter polymorphism on expression levels and the phenotype of atopy Kentaro Nanatsue, Takahiro Ninomiya, Mio Tsuchiya, Satoko Tahara-Hanaoka, Akira Shibuya, Hironori Masuko, Toru Sakamoto, Nobuyuki Hizawa, Tadao Arinami and Emiko Noguchi J Hum Genet 2014 59: 480-483; advance online publication, July 10, 2014; 10.1038/jhg.2014.57 Abstract | Full Text A new acro-osteolysis syndrome caused by duplications including PTHLH Mary J Gray, Margriet van Kogelenberg, Rachel Beddow, Tim Morgan, Paul Wordsworth, Deborah J Shears, Stephen P Robertson and Jane A Hurst J Hum Genet 2014 59: 484-487; advance online publication, July 10, 2014; 10.1038/jhg.2014.58 Abstract | Full Text Germline mutation of Glu70Lys is highly frequent in Korean patients with von Hippel–Lindau (VHL) disease Sena Hwang, Cheol Ryong Ku, Ji In Lee, Kyu Yeon Hur, Myung-Shik Lee, Chul-Ho Lee, Kyo Yeon Koo, Jin-Sung Lee and Yumie Rhee J Hum Genet 2014 59: 488-493; advance online publication, July 31, 2014; 10.1038/jhg.2014.61 Abstract | Full Text Isolation, contact and social behavior shaped genetic diversity in West Timor OPEN Meryanne K Tumonggor, Tatiana M Karafet, Sean Downey, J Stephen Lansing, Peter Norquest, Herawati Sudoyo, Michael F Hammer and Murray P Cox J Hum Genet 2014 59: 494-503; advance online publication, July 31, 2014; 10.1038/jhg.2014.62 Abstract | Full Text Alterations to DNA methylation and expression of CXCL14 are associated with suboptimal birth outcomes Clara Y Cheong, Keefe Chng, Mei Kee Lim, Ajith I Amrithraj, Roy Joseph, Rami Sukarieh, Yong Chee Tan, Louiza Chan, Jun Hao Tan, Li Chen, Hong Pan, Joanna D Holbrook, Michael J Meaney, Yap Seng Chong, Peter D Gluckman and Walter Stünkel J Hum Genet 2014 59: 504-511; advance online publication, August 7, 2014; 10.1038/jhg.2014.63 Abstract | Full Text Geography has more influence than language on maternal genetic structure of various northeastern Thai ethnicities Wibhu Kutanan, Silvia Ghirotto, Giorgio Bertorelle, Suparat Srithawong, Kanokpohn Srithongdaeng, Nattapon Pontham and Daoroong Kangwanpong J Hum Genet 2014 59: 512-520; advance online publication, July 31, 2014; 10.1038/jhg.2014.64 Abstract | Full Text The first USH2A mutation analysis of Japanese autosomal recessive retinitis pigmentosa patients: a totally different mutation profile with the lack of frequent mutations found in Caucasian patients Yang Zhao, Katsuhiro Hosono, Kimiko Suto, Chie Ishigami, Yuuki Arai, Akiko Hikoya, Yasuhiko Hirami, Masafumi Ohtsubo, Shinji Ueno, Hiroko Terasaki, Miho Sato, Hiroshi Nakanishi, Shiori Endo, Kunihiro Mizuta, Hiroyuki Mineta, Mineo Kondo, Masayo Takahashi, Shinsei Minoshima and Yoshihiro Hotta J Hum Genet 2014 59: 521-528; advance online publication, July 31, 2014; 10.1038/jhg.2014.65 Abstract | Full Text Glutathione-S-transferase polymorphism and acute lymphoblastic leukemia (ALL) in north Indian children: a case–control study and meta-analysis Nirmalya Roy Moulik, Farah Parveen, Archana Kumar and Suraksha Agrawal J Hum Genet 2014 59: 529-535; advance online publication, August 7, 2014; 10.1038/jhg.2014.66 Abstract | Full Text Short Communication Top Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndrome Lei Feng, Daizhan Zhou, Zhou Zhang, Yun Liu and Yabo Yang J Hum Genet 2014 59: 536-539; advance online publication, August 7, 2014; 10.1038/jhg.2014.60 Abstract | Full Text Advertisement Have you read these highly downloaded articles recently published by Journal of Human Genetics? The case for the continuing use of the revised Cambridge Reference Sequence (rCRS) and the standardization of notation in human mitochondrial DNA studies The promise of whole-exome sequencing in medical genetics   Exploring the pathophysiology behind the more common genetic and acquired lipodystrophies   Browse more content!    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. 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