Thursday, October 25, 2012

Journal of Human Genetics - Table of Contents alert Volume 57 Issue 10


TABLE OF CONTENTS

Volume 57, Issue 10 (October 2012)

In this issue
Commentary
Review
Original Articles
Short Communications

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Commentary

Top

A commentary on ‘TECTA mutations in Japanese with mid-frequency hearing loss affected by Zona Pellucida domain protein secretion’

Yukihide Maeda and Kunihiro Fukushima

J Hum Genet 2012 57: 619-620; advance online publication, August 9, 2012; 10.1038/jhg.2012.89

Full Text

Review

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Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

Bahareh Rabbani, Nejat Mahdieh, Kazuyoshi Hosomichi, Hirofumi Nakaoka and Ituro Inoue

J Hum Genet 2012 57: 621-632; advance online publication, July 26, 2012; 10.1038/jhg.2012.91

Abstract | Full Text

Original Articles

Top

USH1K, a novel locus for type I Usher syndrome, maps to chromosome 10p11.21–q21.1

Thomas J Jaworek, Rashid Bhatti, Noreen Latief, Shaheen N Khan, Saima Riazuddin and Zubair M Ahmed

J Hum Genet 2012 57: 633-637; advance online publication, June 21, 2012; 10.1038/jhg.2012.79

Abstract | Full Text

Genetic variants at 5p12 and risk of breast cancer in Han Chinese

Xiao’an Liu, Zhenzhen Qin, Hao Shen, Jialei Xue, Yue Jiang, Zhibin Hu, Hongbing Shen and Shui Wang

J Hum Genet 2012 57: 638-641; advance online publication, July 26, 2012; 10.1038/jhg.2012.83

Abstract | Full Text

DBGSA: a novel method of distance-based gene set analysis

Jin Li, Limei Wang, Liangde Xu, Ruijie Zhang, Meilin Huang, Ke Wang, Jiankai Xu, Hongchao Lv, Zhenwei Shang, Mingming Zhang, Yongshuai Jiang, Maozu Guo and Xia Li

J Hum Genet 2012 57: 642-653; advance online publication, July 12, 2012; 10.1038/jhg.2012.86

Abstract | Full Text

Association of common PAX9 variants with permanent tooth size variation in non-syndromic East Asian populations

Won-Chul Lee, Tetsutaro Yamaguchi, Chiaki Watanabe, Akira Kawaguchi, Mayako Takeda, Yong-Il Kim, Shugo Haga, Yoko Tomoyasu, Hajime Ishida, Koutaro Maki, Soo-Byung Park and Ryosuke Kimura

J Hum Genet 2012 57: 654-659; advance online publication, July 19, 2012; 10.1038/jhg.2012.90

Abstract | Full Text

Genome-wide association study identifies GYS2 as a novel genetic factor for polycystic ovary syndrome through obesity-related condition

Joo-Yeon Hwang, Eun-Ju Lee, Min Jin Go, Yeon-Ah Sung, Hye Jin Lee, Soo Heon Kwak, Hak C Jang, Kyung Soo Park, Hye-Ja Lee, Han Byul Jang, Jihyun Song, Kyung-Hee Park, Hyung-Lae Kim, Myeong-Chan Cho and Jong-Young Lee

J Hum Genet 2012 57: 660-664; advance online publication, September 6, 2012; 10.1038/jhg.2012.92

Abstract | Full Text

Warfarin pharmacogenetics: development of a dosing algorithm for Omani patients

Anil Pathare, Murtadha Al Khabori, Salam Alkindi, Shoaib Al Zadjali, Rhea Misquith, Hammad Khan, Claudine Lapoumeroulie, Andras Paldi and Rajagopal Krishnamoorthy

J Hum Genet 2012 57: 665-669; advance online publication, August 2, 2012; 10.1038/jhg.2012.94

Abstract | Full Text

Hypermethylation of OPRM1 promoter region in European Americans with alcohol dependence

Huiping Zhang, Aryeh I Herman, Henry R Kranzler, Raymond F Anton, Arthur A Simen and Joel Gelernter

J Hum Genet 2012 57: 670-675; advance online publication, August 23, 2012; 10.1038/jhg.2012.98

Abstract | Full Text

Short Communications

Top

NDesign: software for study design for the detection of rare variants from next-generation sequencing data

Yuki Sugaya, Yasuaki Akazawa, Akira Saito and Shigeo Kamitsuji

J Hum Genet 2012 57: 676-678; advance online publication, July 12, 2012; 10.1038/jhg.2012.81

Abstract | Full Text

Novel PNPLA2 gene mutations in Chinese Han patients causing neutral lipid storage disease with myopathy

Pengfei Lin, Wei Li, Bing Wen, Yuying Zhao, Danielle S Fenster, Yongxiang Wang, Yaoqin Gong and Chuanzhu Yan

J Hum Genet 2012 57: 679-681; advance online publication, July 26, 2012; 10.1038/jhg.2012.84

Abstract | Full Text

Identification of ALK germline mutation (3605delG) in pediatric anaplastic medulloblastoma

Simona Coco, Marilena De Mariano, Francesca Valdora, Tiziana Servidei, Vita Ridola, Immacolata Andolfo, André Oberthuer, Gian Paolo Tonini and Luca Longo

J Hum Genet 2012 57: 682-684; advance online publication, July 19, 2012; 10.1038/jhg.2012.87

Abstract | Full Text

On the Y-chromosome haplogroup C3c classification

Boris A Malyarchuk, Miroslava Derenko and Galina Denisova

J Hum Genet 2012 57: 685-686; advance online publication, July 19, 2012; 10.1038/jhg.2012.93

Abstract | Full Text

Paternal uniparental isodisomy of chromosome 22 in a patient with metachromatic leukodystrophy

Yo Niida, Mondo Kuroda, Yusuke Mitani, Ayano Yokoi and Mamoru Ozaki

J Hum Genet 2012 57: 687-690; advance online publication, August 2, 2012; 10.1038/jhg.2012.97

Abstract | Full Text

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