Journal of Human Genetics - Table of Contents alert Volume 57 Issue 1

TABLE OF CONTENTS Volume 57, Issue 1 (January 2012) In this issue Editorial Commentaries Review Original Articles Short Communications Also new AOP Advertisement Accelerate Your Next-Generation Sequencing Sample QC. The new Agilent 2200 TapeStation system offers researchers a new level of confidence in their sample and library quality control. Designed for scalability, speed and simplicity, the system provides results in approximately one minute per sample, even for 96 samples. See the system at AGBT 2012 and learn more! Download free information kit now. Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement New to Nature Publishing Group: IBMS BoneKEy Promoting bone health worldwide with: BoneKEy Knowledge Environment - the premier bone health online knowledge environment delivering extensive coverage on bone diseases and the clinical care of such diseases. BoneKEy Reports - A new online only journal providing in depth coverage of the bone field.   Editorial Top New Year’s Greetings Katsushi Tokunaga Editor-in-Chief J Hum Genet 2012 57: 1-2; 10.1038/jhg.2011.141 Full Text Commentaries Top Commentary on Functional analysis of APOE Locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE Minerva M Carrasquillo and Kevin Morgan J Hum Genet 2012 57: 3-4; advance online publication, December 8, 2011; 10.1038/jhg.2011.135 Full Text A commentary on A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia Hong Shi J Hum Genet 2012 57: 5; advance online publication, December 1, 2011; 10.1038/jhg.2011.136 Full Text Review Top Implications of gene copy-number variation in health and diseases Suhani H Almal and Harish Padh J Hum Genet 2012 57: 6-13; advance online publication, September 29, 2011; 10.1038/jhg.2011.108 Abstract | Full Text Original Articles Top A Family-based Association Study of DIO2 and children mental retardation in the Qinba region of China Kejin Zhang, Heng Xi, Xiying Wang, Yale Guo, Shaoping Huang, Zijian Zheng, Fuchang Zhang and Xiaocai Gao J Hum Genet 2012 57: 14-17; advance online publication, November 3, 2011; 10.1038/jhg.2011.121 Abstract | Full Text Functional analysis of APOE locus genetic variation implicates regional enhancers in the regulation of both TOMM40 and APOE Lynn M Bekris, Franziska Lutz and Chang-En Yu J Hum Genet 2012 57: 18-25; advance online publication, November 17, 2011; 10.1038/jhg.2011.123 Abstract | Full Text Functional single-nucleotide polymorphism of epidermal growth factor is associated with the development of Barrett's esophagus and esophageal adenocarcinoma Vivianda Menke, Raymond GJ Pot, Leon MG Moons, Katinka PM van Zoest, Bettina Hansen, Herman van Dekken, Peter D Siersema, Johannes G Kusters and Ernst J Kuipers J Hum Genet 2012 57: 26-32; advance online publication, December 1, 2011; 10.1038/jhg.2011.124 Abstract | Full Text Genome-wide association study of copy number variation identified gremlin1 as a candidate gene for lean body mass Rong Hai, Yu-Fang Pei, Hui Shen, Lei Zhang, Xiao-Gang Liu, Yong Lin, Shu Ran, Feng Pan, Li-Jun Tan, Shu-Feng Lei, Tie-Lin Yang, Yan Zhang, Xue-Zhen Zhu, Lan-Juan Zhao and Hong-Wen Deng J Hum Genet 2012 57: 33-37; advance online publication, November 3, 2011; 10.1038/jhg.2011.125 Abstract | Full Text Tumor suppressive microRNA-133a regulates novel molecular networks in lung squamous cell carcinoma Yasumitsu Moriya, Nijiro Nohata, Takashi Kinoshita, Muradil Mutallip, Tatsuro Okamoto, Shigetoshi Yoshida, Makoto Suzuki, Ichiro Yoshino and Naohiko Seki J Hum Genet 2012 57: 38-45; advance online publication, November 17, 2011; 10.1038/jhg.2011.126 Abstract | Full Text Genetic variations in the CYP17A1 and NT5C2 genes are associated with a reduction in visceral and subcutaneous fat areas in Japanese women Kikuko Hotta, Aya Kitamoto, Takuya Kitamoto, Seiho Mizusawa, Hajime Teranishi, Tomoaki Matsuo, Yoshio Nakata, Hideyuki Hyogo, Hidenori Ochi, Takahiro Nakamura, Seika Kamohara, Nobuyuki Miyatake, Kazuaki Kotani, Ryoya Komatsu, Naoto Itoh, Ikuo Mineo, Jun Wada, Masato Yoneda, Atsushi Nakajima, Tohru Funahashi, Shigeru Miyazaki, Katsuto Tokunaga, Hiroaki Masuzaki, Takato Ueno, Kazuaki Chayama, Kazuyuki Hamaguchi, Kentaro Yamada, Toshiaki Hanafusa, Shinichi Oikawa, Hironobu Yoshimatsu, Toshiie Sakata, Kiyoji Tanaka, Yuji Matsuzawa, Kazuwa Nakao and Akihiro Sekine J Hum Genet 2012 57: 46-51; advance online publication, November 10, 2011; 10.1038/jhg.2011.127 Abstract | Full Text Clinical features and genetic analysis of Korean patients with Loeys–Dietz syndrome Jeong Hoon Yang, Chang-Seok Ki, Hyejin Han, Bong Gun Song, Shin Yi Jang, Tae-Young Chung, Kiick Sung, Heung Jae Lee and Duk-Kyung Kim J Hum Genet 2012 57: 52-56; advance online publication, November 24, 2011; 10.1038/jhg.2011.130 Abstract | Full Text Single nucleotide polymorphisms in JAZF1 and BCL11A gene are nominally associated with type 2 diabetes in African-American families from the GENNID study Kurt A Langberg, Lijun Ma, Neeraj K Sharma, Craig L Hanis, Steven C Elbein, Sandra J Hasstedt and Swapan K Das for the American Diabetes Association GENNID Study Group J Hum Genet 2012 57: 57-61; advance online publication, November 24, 2011; 10.1038/jhg.2011.133 Abstract | Full Text Short Communications Top Uneventful clinical courses of Korean patients with methylcrotonylglycinuria and their common mutations Chang-Woo Jung, Beom Hee Lee, Joo Hyun Kim, Gu-Hwan Kim, Jin Lee, Jin-Ho Choi and Han-Wook Yoo J Hum Genet 2012 57: 62-64; advance online publication, October 27, 2011; 10.1038/jhg.2011.116 Abstract | Full Text A multiplex SNP assay for the dissection of human Y-chromosome haplogroup O representing the major paternal lineage in East and Southeast Asia Mannis van Oven, Nathalie van den Tempel and Manfred Kayser J Hum Genet 2012 57: 65-69; advance online publication, November 3, 2011; 10.1038/jhg.2011.120 Abstract | Full Text Exome sequencing can detect pathogenic mosaic mutations present at low allele frequencies Alistair T Pagnamenta, Stefano Lise, Victoria Harrison, Helen Stewart, Sandeep Jayawant, Gerardine Quaghebeur, Alexander T Deng, Valerie Elizabeth Murphy, Elham Sadighi Akha, Andy Rimmer, Iain Mathieson, Samantha JL Knight, Usha Kini, Jenny C Taylor and David A Keays J Hum Genet 2012 57: 70-72; advance online publication, December 1, 2011; 10.1038/jhg.2011.128 Abstract | Full Text Concomitant microduplications of MECP2 and ATRX in male patients with severe mental retardation Shozo Honda, Shigeko Satomura, Shin Hayashi, Issei Imoto, Eiji Nakagawa, Yu-ichi Goto and Johji Inazawa and the Japanese Mental Retardation Consortium J Hum Genet 2012 57: 73-77; advance online publication, December 1, 2011; 10.1038/jhg.2011.131 Abstract | Full Text Advertisement Medical Genetics Series Web Focus Journal of Human Genetics is proud to present the Medical Genetics Web Focus, a collection of the latest original and review articles on medical genetics. 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