Thursday, May 25, 2017

Journal of Human Genetics - Table of Contents alert Volume 62 Issue 6

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Journal of Human Genetics


Volume 62, Issue 6 (June 2017)

In this issue
Original Articles
Short Communications

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Original Articles


GRIN1 mutation associated with intellectual disability alters NMDA receptor trafficking and function

Wenjuan Chen, Christine Shieh, Sharon A Swanger, Anel Tankovic, Margaret Au, Marianne McGuire, Michele Tagliati, John M Graham, Suneeta Madan-Khetarpal, Stephen F Traynelis, Hongjie Yuan and Tyler Mark Pierson

J Hum Genet 2017 62: 589-597; advance online publication, February 23, 2017; 10.1038/jhg.2017.19

Abstract | Full Text

Clinical diversity caused by novel IGHMBP2 variants

Jun-Hui Yuan, Akihiro Hashiguchi, Akiko Yoshimura, Hiroshi Yaguchi, Koji Tsuzaki, Azusa Ikeda, Kenji Wada-Isoe, Masahiro Ando, Tomonori Nakamura, Yujiro Higuchi, Yu Hiramatsu, Yuji Okamoto and Hiroshi Takashima

J Hum Genet 2017 62: 599-604; advance online publication, March 9, 2017; 10.1038/jhg.2017.15

Abstract | Full Text

Subdivisions of haplogroups U and C encompass mitochondrial DNA lineages of Eneolithic–Early Bronze Age Kurgan populations of western North Pontic steppe

Alexey G Nikitin, Svetlana Ivanova, Dmytro Kiosak, Jessica Badgerow and Jeff Pashnick

J Hum Genet 2017 62: 605-613; advance online publication, February 2, 2017; 10.1038/jhg.2017.12

Abstract | Full Text

Identification of pathogenic variants in genes related to channelopathy and cardiomyopathy in Korean sudden cardiac arrest survivors

Ju Sun Song, Jong-Sun Kang, Young-Eun Kim, Seung-jung Park, Kyoung-Min Park, June Huh, June Soo Kim, Hana Cho, Chang-Seok Ki and Young Keun On

J Hum Genet 2017 62: 615-620; advance online publication, February 16, 2017; 10.1038/jhg.2017.8

Abstract | Full Text

Including non-informative parents in transmission-based association tests

Hemant Kulkarni and Saurabh Ghosh

J Hum Genet 2017 62: 621-629; advance online publication, February 16, 2017; 10.1038/jhg.2017.9

Abstract | Full Text

Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico

Fuzuki Mizuno, Masahiko Kumagai, Kunihiko Kurosaki, Michiko Hayashi, Saburo Sugiyama, Shintaroh Ueda and Li Wang

J Hum Genet 2017 62: 631-635; advance online publication, February 16, 2017; 10.1038/jhg.2017.14

Abstract | Full Text

Mosaic chromosome Y loss and testicular germ cell tumor risk

Mitchell J Machiela, Casey L Dagnall, Anand Pathak, Jennifer T Loud, Stephen J Chanock, Mark H Greene, Katherine A McGlynn and Douglas R Stewart

J Hum Genet 2017 62: 637-640; advance online publication, March 9, 2017; 10.1038/jhg.2017.20

Abstract | Full Text

Gain-of-function mutation p.Arg225Cys in SCN11A causes familial episodic pain and contributes to essential tremor

Xue-Rong Leng, Xiao-Hong Qi, Yong-Tao Zhou and Yu-Ping Wang

J Hum Genet 2017 62: 641-646; advance online publication, March 16, 2017; 10.1038/jhg.2017.21

Abstract | Full Text

Short Communications


Mutations in methionyl-tRNA synthetase gene in a Chinese family with interstitial lung and liver disease, postnatal growth failure and anemia

Yu Sun, Guorui Hu, Jihang Luo, Di Fang, Yongguo Yu, Xiang Wang, Jing Chen and Wenjuan Qiu

J Hum Genet 2017 62: 647-651; advance online publication, February 2, 2017; 10.1038/jhg.2017.10

Abstract | Full Text

A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndrome

Takehiko Inui, Mai Anzai, Yusuke Takezawa, Wakaba Endo, Yosuke Kakisaka, Atsuo Kikuchi, Akira Onuma, Shigeo Kure, Ichizo Nishino, Chihiro Ohba, Hirotomo Saitsu, Naomichi Matsumoto and Kazuhiro Haginoya

J Hum Genet 2017 62: 653-655; advance online publication, February 2, 2017; 10.1038/jhg.2017.11

Abstract | Full Text

Prevalence of four Mendelian disorders associated with autism in 2392 affected families

Avi Saskin, Vanessa Fulginiti, Ashley H Birch and Yannis Trakadis

J Hum Genet 2017 62: 657-659; advance online publication, March 9, 2017; 10.1038/jhg.2017.16

Abstract | Full Text

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1

Priya T Bhola, Taila Hartley, Eric Bareke, Care4Rare Canada Consortium, Kym M Boycott, Sarah M Nikkel and David A Dyment

J Hum Genet 2017 62: 661-663; advance online publication, February 23, 2017; 10.1038/jhg.2017.18

Abstract | Full Text

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