Wednesday, March 25, 2015

Journal of Human Genetics - Table of Contents alert Volume 60 Issue 3

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Journal of Human Genetics

TABLE OF CONTENTS

Volume 60, Issue 3 (March 2015)

In this issue
Editorial
Original Articles
Short Communications
Correspondence
Corrigendum

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Editorial

Top

A message for 2015

Naomichi Matsumoto

J Hum Genet 2015 60: 109-111; 10.1038/jhg.2015.9

Full Text

Original Articles

Top

A nonsynonymous SNP in BANK1 is associated with serum LDL cholesterol levels in three Korean populations

Kyung-Won Hong, Jieun Lyu, So Hyun Lee, Bo Youl Choi, Sung Soo Kim and Yeonjung Kim

J Hum Genet 2015 60: 113-118; advance online publication, January 22, 2015; 10.1038/jhg.2014.108

Abstract | Full Text

Exome sequencing identifies a novel CEACAM16 mutation associated with autosomal dominant nonsyndromic hearing loss DFNA4B in a Chinese family

Honghan Wang, Xinwei Wang, Chufeng He, Haibo Li, Jie Qing, M'hamed Grati, Zhengmao Hu, Jiada Li, Yiqiao Hu, Kun Xia, Lingyun Mei, Xingwei Wang, Jianjun Yu, Hongsheng Chen, Lu Jiang, Yalan Liu, Meichao Men, Hailin Zhang, Liping Guan, Jingjing Xiao, Jianguo Zhang, Xuezhong Liu and Yong Feng

J Hum Genet 2015 60: 119-126; advance online publication, January 15, 2015; 10.1038/jhg.2014.114

Abstract | Full Text

Copy-number variations in Y-chromosomal azoospermia factor regions identified by multiplex ligation-dependent probe amplification

Kazuki Saito, Mami Miyado, Yoshitomo Kobori, Yoko Tanaka, Hiromichi Ishikawa, Atsumi Yoshida, Momori Katsumi, Hidekazu Saito, Toshiro Kubota, Hiroshi Okada, Tsutomu Ogata and Maki Fukami

J Hum Genet 2015 60: 127-131; advance online publication, January 8, 2015; 10.1038/jhg.2014.115

Abstract | Full Text

Chromosome abnormalities diagnosed in utero: a Japanese study of 28983 amniotic fluid specimens collected before 22 weeks gestations

Miyuki Nishiyama, Jim Yan, Junko Yotsumoto, Hideaki Sawai, Akihiko Sekizawa, Yoshimasa Kamei and Haruhiko Sago

J Hum Genet 2015 60: 133-137; advance online publication, January 8, 2015; 10.1038/jhg.2014.116

Abstract | Full Text

Identification of FAM13A gene associated with the ratio of FEV1 to FVC in Korean population by genome-wide association studies including gene–environment interactions

Soriul Kim, Hyun Kim, Namhan Cho, Seung Ku Lee, Bok-ghee Han, Jae Woong Sull, Sun Ha Jee and Chol Shin

J Hum Genet 2015 60: 139-145; advance online publication, January 22, 2015; 10.1038/jhg.2014.118

Abstract | Full Text

Short Communications

Top

PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure

Michel Belyk, Shelly Jo Kraft and Steven Brown for the Pediatric Imaging, Neurocognition and Genetics Study

J Hum Genet 2015 60: 147-150; advance online publication, December 18, 2014; 10.1038/jhg.2014.107

Abstract | Full Text

Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Takeshi Tsuda, Kristi Fitzgerald, Mena Scavena, Samuel Gidding, Mary O Cox, Harold Marks, Kevin M Flanigan and Steven A Moore

J Hum Genet 2015 60: 151-155; advance online publication, December 24, 2014; 10.1038/jhg.2014.112

Abstract | Full Text

Chinese homozygous Machado–Joseph disease (MJD)/SCA3: a case report

Sheng Zeng, Junsheng Zeng, Miao He, Xianfeng Zeng, Yao Zhou, Zhen Liu, Hong Jiang, Beisha Tang and Junling Wang

J Hum Genet 2015 60: 157-160; advance online publication, January 8, 2015; 10.1038/jhg.2014.117

Abstract | Full Text

Correspondence

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A commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Katarina Pelin, Kirsi Kiiski, Vilma-Lotta Lehtokari and Carina Wallgren-Pettersson

J Hum Genet 2015 60: 161-162; advance online publication, January 15, 2015; 10.1038/jhg.2014.120

Full Text

A reply to a commentary on identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Shin-Young Yim and Seon-Yong Jeong

J Hum Genet 2015 60: 163-164; advance online publication, January 15, 2015; 10.1038/jhg.2014.119

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Corrigendum

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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 2015 60: 165; 10.1038/jhg.2014.113

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