Monday, October 26, 2015

Journal of Human Genetics - Table of Contents alert Volume 60 Issue 10

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Journal of Human Genetics

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TABLE OF CONTENTS

Volume 60, Issue 10 (October 2015)

In this issue
Original Articles
Short Communications
Corrigenda

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Original Articles

Top

Calcification of joints and arteries: second report with novel NT5E mutations and expansion of the phenotype

Zeng Zhang, Jin-Wei He, Wen-Zhen Fu, Chang-Qing Zhang and Zhen-Lin Zhang

J Hum Genet 2015 60: 561-564; advance online publication, July 16, 2015; 10.1038/jhg.2015.85

Abstract | Full Text

Unique characteristics of the Ainu population in Northern Japan

Timothy A Jinam, Hideaki Kanzawa-Kiriyama, Ituro Inoue, Katsushi Tokunaga, Keiichi Omoto and Naruya Saitou

J Hum Genet 2015 60: 565-571; advance online publication, July 16, 2015; 10.1038/jhg.2015.79

Abstract | Full Text

Genome-wide association study of IgA nephropathy using 23465 microsatellite markers in a Japanese population

Sanae Saka, Nobuhito Hirawa, Akira Oka, Keisuke Yatsu, Takeshi Hirukawa, Ryohei Yamamoto, Taiji Matsusaka, Enyu Imai, Ichiei Narita, Masayuki Endoh, Iekuni Ichikawa, Satoshi Umemura and Hidetoshi Inoko

J Hum Genet 2015 60: 573-580; advance online publication, July 23, 2015; 10.1038/jhg.2015.88

Abstract | Full Text

Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals OPEN

Yosuke Kawai, Takahiro Mimori, Kaname Kojima, Naoki Nariai, Inaho Danjoh, Rumiko Saito, Jun Yasuda, Masayuki Yamamoto and Masao Nagasaki

J Hum Genet 2015 60: 581-587; advance online publication, June 25, 2015; 10.1038/jhg.2015.68

Abstract | Full Text

Genetic mutations in human rectal cancers detected by targeted sequencing

Jun Bai, Jinglong Gao, Zhijun Mao, Jianhua Wang, Jianhui Li, Wensheng Li, Yu Lei, Shuaishuai Li, Zhuo Wu, Chuanning Tang, Lindsey Jones, Hua Ye, Feng Lou, Zhiyuan Liu, Zhishou Dong, Baishuai Guo, Xue F Huang, Si-Yi Chen and Enke Zhang

J Hum Genet 2015 60: 589-596; advance online publication, July 2, 2015; 10.1038/jhg.2015.71

Abstract | Full Text

Germline mutations causing familial lung cancer

Koichi Tomoshige, Keitaro Matsumoto, Tomoshi Tsuchiya, Masahiro Oikawa, Takuro Miyazaki, Naoya Yamasaki, Hiroyuki Mishima, Akira Kinoshita, Toru Kubo, Kiyoyasu Fukushima, Koh-ichiro Yoshiura and Takeshi Nagayasu

J Hum Genet 2015 60: 597-603; advance online publication, July 16, 2015; 10.1038/jhg.2015.75

Abstract | Full Text

Spina bifida in fetus is associated with an altered pattern of DNA methylation in placenta

Xiaojuan Zhang, Lijun Pei, Runting Li, Wei Zhang, Hua Yang, Yongchao Li, Yu Guo, Pingping Tan, Jingdong J Han, Xiaoying Zheng and Runlin Z Ma

J Hum Genet 2015 60: 605-611; advance online publication, July 16, 2015; 10.1038/jhg.2015.80

Abstract | Full Text

Carrier frequency of the GJB2 mutations that cause hereditary hearing loss in the Japanese population OPEN

Mirei Taniguchi, Hirotaka Matsuo, Seiko Shimizu, Akiyoshi Nakayama, Koji Suzuki, Nobuyuki Hamajima, Nariyoshi Shinomiya, Shinya Nishio, Shinji Kosugi, Shin-ichi Usami, Juichi Ito and Shin-ichiro Kitajiri

J Hum Genet 2015 60: 613-617; advance online publication, July 16, 2015; 10.1038/jhg.2015.82

Abstract | Full Text

Association of common variants in H2AFZ gene with schizophrenia and cognitive function in patients with schizophrenia

Ming Chang, Linyan Sun, Xinmei Liu, Wei Sun and Xuqun You

J Hum Genet 2015 60: 619-624; advance online publication, August 6, 2015; 10.1038/jhg.2015.89

Abstract | Full Text

Whole-exome sequencing reveals a novel frameshift mutation in the FAM161A gene causing autosomal recessive retinitis pigmentosa in the Indian population

Yu Zhou, Bibhuti B Saikia, Zhilin Jiang, Xiong Zhu, Yuqing Liu, Lulin Huang, Ramasamy Kim, Yin Yang, Chao Qu, Fang Hao, Bo Gong, Zhengfu Tai, Lihong Niu, Zhenglin Yang, Periasamy Sundaresan and Xianjun Zhu

J Hum Genet 2015 60: 625-630; advance online publication, August 6, 2015; 10.1038/jhg.2015.92

Abstract | Full Text

Short Communications

Top

Novel compound heterozygous LIAS mutations cause glycine encephalopathy

Yoshinori Tsurusaki, Ryuta Tanaka, Shino Shimada, Keiko Shimojima, Masaaki Shiina, Mitsuko Nakashima, Hirotomo Saitsu, Noriko Miyake, Kazuhiro Ogata, Toshiyuki Yamamoto and Naomichi Matsumoto

J Hum Genet 2015 60: 631-635; advance online publication, June 25, 2015; 10.1038/jhg.2015.72

Abstract | Full Text

GIGYF2 mutation in late-onset Parkinson’s disease with cognitive impairment

Javier Ruiz-Martinez, Catharine E Krebs, Vladimir Makarov, Ana Gorostidi, Jose Félix Martí-Massó and Coro Paisán-Ruiz

J Hum Genet 2015 60: 637-640; advance online publication, July 2, 2015; 10.1038/jhg.2015.69

Abstract | Full Text

Screening of sarcomere gene mutations in young athletes with abnormal findings in electrocardiography: identification of a MYH7 mutation and MYBPC3 mutations

Chika Kadota, Takuro Arimura, Takeharu Hayashi, Taeko K Naruse, Sachio Kawai and Akinori Kimura

J Hum Genet 2015 60: 641-645; advance online publication, July 16, 2015; 10.1038/jhg.2015.81

Abstract | Full Text

Frequent genomic rearrangements of BRCA1 associated protein-1 (BAP1) gene in Japanese malignant mesothelioma—characterization of deletions at exon level

Mitsuru Emi, Yoshie Yoshikawa, Chika Sato, Ayuko Sato, Hidenori Sato, Takeo Kato, Tohru Tsujimura, Seiki Hasegawa, Takashi Nakano and Tomoko Hashimoto-Tamaoki

J Hum Genet 2015 60: 647-649; advance online publication, August 6, 2015; 10.1038/jhg.2015.91

Abstract | Full Text

Corrigenda

Top

The diagnostic utility of exome sequencing in Joubert syndrome and related disorders

Yoshinori Tsurusaki, Yasuko Kobayashi, Masataka Hisano, Shuichi Ito, Hiroshi Doi, Mitsuko Nakashima, Hirotomo Saitsu, Naomichi Matsumoto and Noriko Miyake

J Hum Genet 2015 60: 651; 10.1038/jhg.2015.86

Full Text

FALS with FUS mutation in Japan, with early onset, rapid progress and basophilic inclusion

Naoki Suzuki, Masashi Aoki, Hitoshi Warita, Masaaki Kato, Hideki Mizuno, Naoko Shimakura, Tetsuya Akiyama, Hirokazu Furuya, Toshihiro Hokonohara, Akiko Iwaki, Shinji Togashi, Hidehiko Konno and Yasuto Itoyama

J Hum Genet 2015 60: 653-654; 10.1038/jhg.2015.93

Full Text

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