Journal of Human Genetics - Table of Contents alert Volume 61 Issue 10

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TABLE OF CONTENTS Volume 61, Issue 10 (October 2016) In this issue Original Articles Short Communications Sign up for e-alerts Recommend to your library Web feed Subscribe Original Articles Top SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia Anna Uhrová Mészárosová, Martina Putzová, Marie Čermáková, Dagmar Vávrová, Kateřina Doležalová, Irena Smetanová, David Stejskal, Christian Beetz and Pavel Seeman J Hum Genet 2016 61: 845-850; advance online publication, June 23, 2016; 10.1038/jhg.2016.73 Abstract | Full Text Detecting multiple variants associated with disease based on sequencing data of case–parent trios Chan Wang, Leiming Sun, Haitao Zheng and Yue-Qing Hu J Hum Genet 2016 61: 851-860; advance online publication, June 9, 2016; 10.1038/jhg.2016.63 Abstract | Full Text Empirical estimation of genome-wide significance thresholds based on the 1000 Genomes Project data set OPEN Masahiro Kanai, Toshihiro Tanaka and Yukinori Okada J Hum Genet 2016 61: 861-866; advance online publication, June 16, 2016; 10.1038/jhg.2016.72 Abstract | Full Text Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability Kirti Mittal, Muhammad A Rafiq, Rafiullah Rafiullah, Ricardo Harripaul, Hazrat Ali, Muhammad Ayaz, Muhammad Aslam, Farooq Naeem, Muhammad Amin-ud-din, Ahmed Waqas, Joyce So, Gudrun A Rappold, John B Vincent and Muhammad Ayub J Hum Genet 2016 61: 867-872; advance online publication, June 16, 2016; 10.1038/jhg.2016.62 Abstract | Full Text Evaluation of polygenic risks for narcolepsy and essential hypersomnia Maria Yamasaki, Taku Miyagawa, Hiromi Toyoda, Seik-Soon Khor, Xiaoxi Liu, Hitoshi Kuwabara, Yukiko Kano, Takafumi Shimada, Toshiro Sugiyama, Hisami Nishida, Nagisa Sugaya, Mamoru Tochigi, Takeshi Otowa, Yuji Okazaki, Hisanobu Kaiya, Yoshiya Kawamura, Akinori Miyashita, Ryozo Kuwano, Kiyoto Kasai, Hisashi Tanii, Tsukasa Sasaki, Yutaka Honda, Makoto Honda and Katsushi Tokunaga J Hum Genet 2016 61: 873-878; advance online publication, June 16, 2016; 10.1038/jhg.2016.65 Abstract | Full Text Nationwide survey for current clinical status of amniocentesis and maternal serum marker test in Japan Hidehiko Miyake, Shigehito Yamada, Yosuke Fujii, Hideaki Sawai, Naoko Arimori, Yasuko Yamanouchi, Yuka Ozasa, Makoto Kanai, Haruhiko Sago, Akihiko Sekizawa, Fumio Takada, Hideaki Masuzaki, Yoichi Matsubara, Fumiki Hirahara and Koji Kugu J Hum Genet 2016 61: 879-884; advance online publication, June 30, 2016; 10.1038/jhg.2016.67 Abstract | Full Text Two genetic variants in telomerase-associated protein 1 are associated with stomach cancer risk Dong-Hao Jin, Sung Kim, Duk-Hwan Kim and Joobae Park J Hum Genet 2016 61: 885-889; advance online publication, June 16, 2016; 10.1038/jhg.2016.71 Abstract | Full Text Mutational spectrum in 101 patients with hypohidrotic ectodermal dysplasia and breakpoint mapping in independent cases of rare genomic rearrangements Sigrun Wohlfart, Johanna Hammersen and Holm Schneider J Hum Genet 2016 61: 891-897; advance online publication, June 16, 2016; 10.1038/jhg.2016.75 Abstract | Full Text Short Communications Top The first Japanese case of leukodystrophy with ovarian failure arising from novel compound heterozygous AARS2 mutations Mio Hamatani, Naoto Jingami, Yoshinori Tsurusaki, Shino Shimada, Keiko Shimojima, Megumi Asada-Utsugi, Kenji Yoshinaga, Norihito Uemura, Hirofumi Yamashita, Kengo Uemura, Ryosuke Takahashi, Naomichi Matsumoto and Toshiyuki Yamamoto J Hum Genet 2016 61: 899-902; advance online publication, June 2, 2016; 10.1038/jhg.2016.64 Abstract | Full Text Haplotype diversity in mitochondrial genome in a Chinese Han population Ke Ma, Hui Li, Yu Cao, Xuejun Zhao, Wenbin Liu and Xueying Zhao J Hum Genet 2016 61: 903-906; advance online publication, June 16, 2016; 10.1038/jhg.2016.74 Abstract | Full Text Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with ‘non-syndromic’ pre-axial polydactyly Ying Xiang, Zhigang Wang, Jingxia Bian, Yunlan Xu and Qihua Fu J Hum Genet 2016 61: 907-910; advance online publication, June 16, 2016; 10.1038/jhg.2016.76 Abstract | Full Text Advertisement Human Genome Variation (HGV) is an online, open access journal with accompanying database. 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