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Journal of Human Genetics - Table of Contents alert Volume 62 Issue 12

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Journal of Human Genetics

Volume 62, Issue 12 (December 2017)

In this issue
Original Articles

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The 2017 JHG Young Scientist Award

Naomichi Matsumoto

J Hum Genet 2017 62: 1007; advance online publication, October 5, 2017; 10.1038/jhg.2017.89

Full Text



The pharmacogenomics of valproic acid

Miao-Miao Zhu, Hui-Lan Li, Li-Hong Shi, Xiao-Ping Chen, Jia Luo and Zan-Ling Zhang

J Hum Genet 2017 62: 1009-1014; advance online publication, September 7, 2017; 10.1038/jhg.2017.91

Abstract | Full Text

Original Articles


Pathogen lineage-based genome-wide association study identified CD53 as susceptible locus in tuberculosis OPEN

Yosuke Omae, Licht Toyo-oka, Hideki Yanai, Supalert Nedsuwan, Sukanya Wattanapokayakit, Nusara Satproedprai, Nat Smittipat, Prasit Palittapongarnpim, Pathom Sawanpanyalert, Wimala Inunchot, Ekawat Pasomsub, Nuanjun Wichukchinda, Taisei Mushiroda, Michiaki Kubo, Katsushi Tokunaga and Surakameth Mahasirimongkol

J Hum Genet 2017 62: 1015-1022; advance online publication, September 7, 2017; 10.1038/jhg.2017.82

Abstract | Full Text

A genome-wide association analysis identifies NMNAT2 and HCP5 as susceptibility loci for Kawasaki disease

Jae-Jung Kim, Sin Weon Yun, Jeong Jin Yu, Kyung Lim Yoon, Kyung-Yil Lee, Hong-Ryang Kil, Gi Beom Kim, Myung-Ki Han, Min Seob Song, Hyoung Doo Lee, Kee Soo Ha, Sejung Sohn, Todd A Johnson, Atsushi Takahashi, Michiaki Kubo, Tatsuhiko Tsunoda, Kaoru Ito, Yoshihiro Onouchi, Young Mi Hong, Gi Young Jang, Jong-Keuk Lee and The Korean Kawasaki Disease Genetics Consortium

J Hum Genet 2017 62: 1023-1029; advance online publication, August 31, 2017; 10.1038/jhg.2017.87

Abstract | Full Text

The clinical characteristics of Asian patients with classical-type Hutchinson–Gilford progeria syndrome

Nanae Sato-Kawano, Minoru Takemoto, Emiko Okabe, Koutaro Yokote, Muneaki Matsuo, Rika Kosaki and Kenji Ihara

J Hum Genet 2017 62: 1031-1035; advance online publication, September 7, 2017; 10.1038/jhg.2017.90

Abstract | Full Text

Population-based biobank participants’ preferences for receiving genetic test results OPEN

Kayono Yamamoto, Tsuyoshi Hachiya, Akimune Fukushima, Naoki Nakaya, Akira Okayama, Kozo Tanno, Fumie Aizawa, Tomoharu Tokutomi, Atsushi Hozawa and Atsushi Shimizu

J Hum Genet 2017 62: 1037-1048; advance online publication, August 10, 2017; 10.1038/jhg.2017.81

Abstract | Full Text

Shared genetic variants for polypoidal choroidal vasculopathy and typical neovascular age-related macular degeneration in East Asians

Qiao Fan, Chui Ming Gemmy Cheung, Li Jia Chen, Kenji Yamashiro, Jeeyun Ahn, Augustinus Laude, Ranjana Mathur, Chan Choi Mun, Ian Y Yeo, Tock Han Lim, Yik-Ying Teo, Chiea Chuen Khor, Kyu-Hyung Park, Nagahisa Yoshimura, Chi Pui Pang, Tien Yin Wong and Ching-Yu Cheng

J Hum Genet 2017 62: 1049-1055; advance online publication, August 24, 2017; 10.1038/jhg.2017.83

Abstract | Full Text

Precise mapping of 17 deletion breakpoints within the central hotspot deletion region (introns 50 and 51) of the DMD gene

Gabriella Esposito, Maria Roberta Tremolaterra, Evelina Marsocci, Igor CM Tandurella, Tiziana Fioretti, Maria Savarese and Antonella Carsana

J Hum Genet 2017 62: 1057-1063; advance online publication, September 7, 2017; 10.1038/jhg.2017.84

Abstract | Full Text

Effect of GnRHR polymorphisms on in vitro fertilization and embryo transfer in patients with polycystic ovary syndrome

Wei-Yan Chen, Yan-Qiu Du, Xia Guan, Hong-Yun Zhang and Ting Liu

J Hum Genet 2017 62: 1065-1071; advance online publication, September 7, 2017; 10.1038/jhg.2017.85

Abstract | Full Text

Santos syndrome is caused by mutation in the WNT7A gene

Leandro U Alves, Silvana Santos, Camila M Musso, Suzana AM Ezquina, John M Opitz, Fernando Kok, Paulo A Otto and Regina C Mingroni-Netto

J Hum Genet 2017 62: 1073-1078; advance online publication, August 31, 2017; 10.1038/jhg.2017.86

Abstract | Full Text

Skewed X inactivation in Lesch–Nyhan disease carrier females

Rosa J Torres and Juan G Puig

J Hum Genet 2017 62: 1079-1083; advance online publication, September 14, 2017; 10.1038/jhg.2017.88

Abstract | Full Text

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