Monday, August 28, 2017

Journal of Human Genetics - Table of Contents alert Volume 62 Issue 9

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Journal of Human Genetics
TABLE OF CONTENTS

Volume 62, Issue 9 (September 2017)

In this issue
Original Articles
Short Communications
Correspondence
Corrigendum
 
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Original Articles

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Fetiform teratoma was a parthenogenetic tumor arising from a mature ovum

Kiyonori Miura, Takumi Kurabayashi, Chisei Satoh, Kensaku Sasaki, Tatsuya Ishiguro, Koh-ichiro Yoshiura and Hideaki Masuzaki

J Hum Genet 2017 62: 803-808; advance online publication, April 27, 2017; 10.1038/jhg.2017.45

Abstract | Full Text

Clinical and molecular investigation of 14 Japanese patients with complete TFP deficiency: a comparison with Caucasian cases

Ryosuke Bo, Kenji Yamada, Hironori Kobayashi, Purevsuren Jamiyan, Yuki Hasegawa, Takeshi Taketani, Seiji Fukuda, Ikue Hata, Yo Niida, Yosuke Shigematsu, Kazumoto Iijima and Seiji Yamaguchi

J Hum Genet 2017 62: 809-814; advance online publication, May 18, 2017; 10.1038/jhg.2017.52

Abstract | Full Text

Carrier frequency of Wilson’s disease in the Korean population: a DNA-based approach

Ja-Hyun Jang, Taeheon Lee, Sunghee Bang, Young-Eun Kim and Eun-Hae Cho

J Hum Genet 2017 62: 815-818; advance online publication, May 18, 2017; 10.1038/jhg.2017.49

Abstract | Full Text

Logistic Bayesian LASSO for genetic association analysis of data from complex sampling designs

Yuan Zhang, Jonathan N Hofmann, Mark P Purdue, Shili Lin and Swati Biswas

J Hum Genet 2017 62: 819-829; advance online publication, April 20, 2017; 10.1038/jhg.2017.43

Abstract | Full Text

The first genome-wide association study identifying new susceptibility loci for obstetric antiphospholipid syndrome

Mayumi Sugiura-Ogasawara, Yosuke Omae, Minae Kawashima, Licht Toyo-Oka, Seik-Soon Khor, Hiromi Sawai, Tetsuya Horita, Tatsuya Atsumi, Atsuko Murashima, Daisuke Fujita, Tomio Fujita, Shinji Morimoto, Eriko Morishita, Shinji Katsuragi, Tamao Kitaori, Kinue Katano, Yasuhiko Ozaki and Katsushi Tokunaga

J Hum Genet 2017 62: 831-838; advance online publication, April 20, 2017; 10.1038/jhg.2017.46

Abstract | Full Text

Effect of genomics-related literacy on non-communicable diseases

Sho Nakamura, Hiroto Narimatsu, Kayoko Katayama, Ri Sho, Takashi Yoshioka, Akira Fukao and Takamasa Kayama

J Hum Genet 2017 62: 839-846; advance online publication, May 11, 2017; 10.1038/jhg.2017.50

Abstract | Full Text

Short Communications

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A missense variant, rs373863828-A (p.Arg457Gln), of CREBRF and body mass index in Oceanic populations

Izumi Naka, Takuro Furusawa, Ryosuke Kimura, Kazumi Natsuhara, Taro Yamauchi, Minato Nakazawa, Yuji Ataka, Takafumi Ishida, Tsukasa Inaoka, Yasuhiro Matsumura, Ryutaro Ohtsuka and Jun Ohashi

J Hum Genet 2017 62: 847-849; advance online publication, April 13, 2017; 10.1038/jhg.2017.44

Abstract | Full Text

Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

Miwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, Yuya Ouchi, Daisuke Kurokawa, Keiji Yamana, Risa Harada, Kandai Nozu, Yoshitada Sakai, Sushil K Mishra, Yoshiki Yamaguchi, Ichiro Morioka, Tatsushi Toda, Hiroki Kurahashi and Kazumoto Iijima

J Hum Genet 2017 62: 851-855; advance online publication, April 27, 2017; 10.1038/jhg.2017.48

Abstract | Full Text

SCA42 mutation analysis in a case series of Japanese patients with spinocerebellar ataxia

Mari Kimura, Ichiro Yabe, Yuka Hama, Katsuki Eguchi, Shigehisa Ura, Kazufumi Tsuzaka, Shoji Tsuji and Hidenao Sasaki

J Hum Genet 2017 62: 857-859; advance online publication, May 11, 2017; 10.1038/jhg.2017.51

Abstract | Full Text

A novel missense mutation in the HECT domain of NEDD4L identified in a girl with periventricular nodular heterotopia, polymicrogyria and cleft palate

Koji Kato, Fuyuki Miya, Ikumi Hori, Daisuke Ieda, Kei Ohashi, Yutaka Negishi, Ayako Hattori, Nobuhiko Okamoto, Mitsuhiro Kato, Tatsuhiko Tsunoda, Mami Yamasaki, Yonehiro Kanemura, Kenjiro Kosaki and Shinji Saitoh

J Hum Genet 2017 62: 861-863; advance online publication, May 18, 2017; 10.1038/jhg.2017.53

Abstract | Full Text

Correspondence

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A commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Josef Finsterer and Sinda Zarrouk-Mahjoub

J Hum Genet 2017 62: 865-866; advance online publication, June 15, 2017; 10.1038/jhg.2017.64

Full Text

A reply to a commentary on homozygous p.(Glu87Lys) variant in ISCA1 is associated with a multiple mitochondrial dysfunctions syndrome

Anju Shukla, Malavika Hebbar and Katta M Girisha

J Hum Genet 2017 62: 867; advance online publication, June 15, 2017; 10.1038/jhg.2017.65

Full Text

Corrigendum

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Corrigendum: Novel missense mutation in DLL4 in a Japanese sporadic case of Adams–Oliver syndrome

Miwako Nagasaka, Mariko Taniguchi-Ikeda, Hidehito Inagaki, Yuya Ouchi, Daisuke Kurokawa, Keiji Yamana, Risa Harada, Kandai Nozu, Yoshitada Sakai, Sushil K Mishra, Yoshiki Yamaguchi, Ichiro Morioka, Tatsushi Toda, Hiroki Kurahashi and Kazumoto Iijima

J Hum Genet 2017 62: 869; 10.1038/jhg.2017.59

Full Text

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