Friday, November 25, 2016

Journal of Human Genetics - Table of Contents alert Volume 61 Issue 11

If you are unable to see the message below, click here to view.
Journal of Human Genetics

Nature Outlook: Precision Medicine

Health care that is tailored on the basis of an individual's genes, lifestyle or environment, is not a modern concept. But advances in genetics and the growing availability of health data for researchers and physicians promise to make this new era of medicine more personalized than ever before.

Access the Outlook free online

Sponsored by: 
Illumina, Inc.


Volume 61, Issue 11 (November 2016)

In this issue
Original Articles

Also new
Sign up for e-alerts Sign up for e-alerts
Recommend to your library
Web feed

Original Articles


A replication study of a candidate locus for follicle-stimulating hormone levels and association analysis for semen quality traits in Japanese men

Youichi Sato, Atsushi Tajima, Motoki Katsurayama, Shiari Nozawa, Miki Yoshiike, Eitetsue Koh, Jiro Kanaya, Mikio Namiki, Kiyomi Matsumiya, Akira Tsujimura, Kiyoshi Komatsu, Naoki Itoh, Jiro Eguchi, Issei Imoto, Aiko Yamauchi and Teruaki Iwamoto

J Hum Genet 2016 61: 911-915; advance online publication, June 30, 2016; 10.1038/jhg.2016.82

Abstract | Full Text

SIX2 haploinsufficiency causes conductive hearing loss with ptosis in humans OPEN

Jing Guan, Dayong Wang, Wenjian Cao, Yali Zhao, Renqian Du, Hu Yuan, Qiong Liu, Lan Lan, Liang Zong, Ju Yang, Zifang Yin, Bing Han, Feng Zhang and Qiuju Wang

J Hum Genet 2016 61: 917-922; advance online publication, July 7, 2016; 10.1038/jhg.2016.86

Abstract | Full Text

Long-term enzyme replacement therapy for Fabry disease: efficacy and unmet needs in cardiac and renal outcomes

Ja Hye Kim, Beom Hee Lee, Ja Hyang Cho, Eungu Kang, Jin-Ho Choi, Gu-Hwan Kim and Han-Wook Yoo

J Hum Genet 2016 61: 923-929; advance online publication, June 23, 2016; 10.1038/jhg.2016.78

Abstract | Full Text

Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders

Yuri Kitamura, Eri Kondo, Mari Urano, Ryoko Aoki and Kayoko Saito

J Hum Genet 2016 61: 931-942; advance online publication, June 30, 2016; 10.1038/jhg.2016.79

Abstract | Full Text

PAX4 R192H and P321H polymorphisms in type 2 diabetes and their functional defects

Jatuporn Sujjitjoon, Suwattanee Kooptiwut, Nalinee Chongjaroen, Namoiy Semprasert, Wanthanee Hanchang, Kanjana Chanprasert, Watip Tangjittipokin, Pa-thai Yenchitsomanus and Nattachet Plengvidhya

J Hum Genet 2016 61: 943-949; advance online publication, June 23, 2016; 10.1038/jhg.2016.80

Abstract | Full Text

Homozygosity mapping guided next generation sequencing to identify the causative genetic variation in inherited retinal degenerative diseases

Srilekha Sundaramurthy, Meenakshi Swaminathan, Parveen Sen, Tharigopala Arokiasamy, Swati Deshpande, Neetha John, Rupali A Gadkari, Ashraf U Mannan and Nagasamy Soumittra

J Hum Genet 2016 61: 951-958; advance online publication, July 7, 2016; 10.1038/jhg.2016.83

Abstract | Full Text

HDR: a statistical two-step approach successfully identifies disease genes in autosomal recessive families OPEN

Atsuko Imai, Masakazu Kohda, Akihiro Nakaya, Yasushi Sakata, Kei Murayama, Akira Ohtake, Mark Lathrop, Yasushi Okazaki and Jurg Ott

J Hum Genet 2016 61: 959-963; advance online publication, June 30, 2016; 10.1038/jhg.2016.85

Abstract | Full Text

Block-based association tests for rare variants using Kullback–Leibler divergence

Degang Zhu, Yue-Qing Hu and Shili Lin

J Hum Genet 2016 61: 965-975; advance online publication, July 14, 2016; 10.1038/jhg.2016.90

Abstract | Full Text

Have you read these highly downloaded articles published by Human Genome Variation, an open access journal to provide genome variation reports and database?

Integrated small copy number variations and epigenome maps of disorders of sex development

Two novel mutations in the KHDC3L gene in Asian patients with recurrent hydatidiform mole

Read more open access contents.
nature events
Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here.

Find the latest scientific conferences, courses, meetings and symposia on For event advertising opportunities across the Nature Publishing Group portfolio please contact
More Nature Events

Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Journal of Human Genetics. In order to do so, please purchase a subscription.

You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your account at: (You will need to log in to be recognised as a registrant).

For further technical assistance, please contact our registration department.

For print subscription enquiries, please contact our subscription department.

For other enquiries, please contact our customer feedback department.

Nature Publishing Group |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA

Nature Publishing Group's worldwide offices:
London - Paris - Munich - New Delhi - Tokyo - Melbourne
San Diego - San Francisco - Washington - New York - Boston

Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW.

© 2016 Nature Publishing Group, a division of Macmillan Publishers Limited. All Rights Reserved.

nature publishing group

No comments: