Friday, December 19, 2014

Journal of Human Genetics - Table of Contents alert Volume 59 Issue 12

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Journal of Human Genetics

TABLE OF CONTENTS

Volume 59, Issue 12 (December 2014)

In this issue
Original Articles
Short Communications
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The winners of 2014 Journal of Human Genetics Young Scientist Award
Journal of Human Genetics Young Scientist Award identifies articles that have made a significant contribution to the JHG, using the judgment criterion of scientific excellence and impact in the field of human genetics. 
Tumor suppressive microRNA-375 regulates oncogene AEG-1/MTDH in head and neck squamous cell carcinoma (HNSCC) 
Gene-gene interactions contribute to eye colour variation in humans
 

Original Articles

Top

Identification of the rare compound heterozygous variants in the NEB gene in a Korean family with intellectual disability, epilepsy and early-childhood-onset generalized muscle weakness

Hyun-Seok Jin, Jong-Bin Lee, Kyung Kim, Ki-Young Lee, Vit-Na Choi, Jong-Soo Kim, Seon-Yong Jeong and Shin-Young Yim

J Hum Genet 2014 59: 643-647; advance online publication, October 9, 2014; 10.1038/jhg.2014.87

Abstract | Full Text

Precise detection of chromosomal translocation or inversion breakpoints by whole-genome sequencing

Toshifumi Suzuki, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Satoru Takeda and Naomichi Matsumoto

J Hum Genet 2014 59: 649-654; advance online publication, October 9, 2014; 10.1038/jhg.2014.88

Abstract | Full Text

Sequence variants of the HTR3A gene contribute to the genetic prediction of postoperative nausea in Taiwan

Yi-Mei Joy Lin, Cheng-Da Hsu, Hsiao-Yen Hsieh, Chia-Chih Alex Tseng and H Sunny Sun

J Hum Genet 2014 59: 655-660; advance online publication, October 23, 2014; 10.1038/jhg.2014.89

Abstract | Full Text

An A/C germline single-nucleotide polymorphism in the TNFAIP3 gene is associated with advanced disease stage and survival in only surgically treated esophageal cancer

Tarik Ghadban, Magdalena Smif, Faik G Uzunoglu, Daniel R Perez, Tung Y Tsui, Alexander T El Gammal, Peter J Erbes, Veacheslav Zilbermints, Ulrich Wellner, Klaus Pantel, Jakob R Izbicki and Yogesh K Vashist

J Hum Genet 2014 59: 661-666; advance online publication, October 30, 2014; 10.1038/jhg.2014.90

Abstract | Full Text

Recurrence risks for different pregnancy outcomes and meiotic segregation analysis of spermatozoa in carriers of t(1;11)(p36.22;q12.2)

Alina Teresa Midro, Barbara Panasiuk, Beata Stasiewicz-Jarocka, Marta Olszewska, Ewa Wiland, Marta Myśliwiec, Maciej Kurpisz, Lisa G Shaffer and Marzena Gajecka

J Hum Genet 2014 59: 667-674; advance online publication, October 16, 2014; 10.1038/jhg.2014.92

Abstract | Full Text

Forensic STR loci reveal common genetic ancestry of the Thai-Malay Muslims and Thai Buddhists in the deep Southern region of Thailand

Wibhu Kutanan, Thitika Kitpipit, Sukanya Phetpeng and Phuvadol Thanakiatkrai

J Hum Genet 2014 59: 675-681; advance online publication, October 23, 2014; 10.1038/jhg.2014.93

Abstract | Full Text

Short Communications

Top

A canonical splice site mutation in GIPC3 causes sensorineural hearing loss in a large Pakistani family

Saima Siddiqi, Muhammad Ismail, Jaap Oostrik, Saba Munawar, Atika Mansoor, Hannie Kremer, Raheel Qamar and Margit Schraders

J Hum Genet 2014 59: 683-686; advance online publication, October 9, 2014; 10.1038/jhg.2014.86

Abstract | Full Text

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly

Hirotomo Saitsu, Sumimasa Yamashita, Yukichi Tanaka, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake and Naomichi Matsumoto

J Hum Genet 2014 59: 687-690; advance online publication, October 16, 2014; 10.1038/jhg.2014.91

Abstract | Full Text

The somatic GNAQ mutation c.548G>A (p.R183Q) is consistently found in Sturge–Weber syndrome

Mitsuko Nakashima, Masakazu Miyajima, Hidenori Sugano, Yasushi Iimura, Mitsuhiro Kato, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Hajime Arai and Naomichi Matsumoto

J Hum Genet 2014 59: 691-693; advance online publication, November 6, 2014; 10.1038/jhg.2014.95

Abstract | Full Text

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Nature Collections 
RNA SEQUENCING QUALITY CONTROL (SEQC) 

Articles from Nature Biotechnology, Nature Communications and Scientific Data presents results
from The RNA Sequencing Quality Control (SEQC) project.
 
Produced with support from the FDA's National Center for Toxicological Research (NCTR/FDA)
and the State Key Laboratory of Genetic Engineering (SKLGE) at Fudan University 
 
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