Journal of Human Genetics - Table of Contents alert Volume 61 Issue 9

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Advertisement Overcome NGS challenges in the clinic QIAGEN allows your clinical testing lab to achieve efficiencies and mitigate risk throughout the development and implementation of NGS-based tests.  Click here to learn how TABLE OF CONTENTS Volume 61, Issue 9 (September 2016) In this issue Commentary Original Articles Short Communications Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement The HGV Database is a fully searchable online database of genome variations published in peer-reviewed Data Reports in Human Genome Variation Search and filter by specific disease, gene, region, population. Try it now. Commentary Top A commentary on de novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux Rie Takai and Tohru Ohta J Hum Genet 2016 61: 773-774; advance online publication, July 7, 2016; 10.1038/jhg.2016.81 Full Text Original Articles Top Fabry disease in patients with hypertrophic cardiomyopathy: a practical approach to diagnosis Jiwon Seo, Minji Kim, Geu-Ru Hong, Dae-Seong Kim, Jang-Won Son, In Jeong Cho, Chi Young Shim, Hyuk-Jae Chang, Jong-Won Ha and Namsik Chung J Hum Genet 2016 61: 775-780; advance online publication, May 26, 2016; 10.1038/jhg.2016.52 Abstract | Full Text Androgen receptor CAG polymorphism and sporadic and early-onset prostate cancer among Mexican men Rocío Gómez, Luisa Torres-Sánchez, Rafael Camacho-Mejorado, Ana I Burguete-García, Ruth Argelia Vázquez-Salas, Gabriela A Martínez-Nava, Carla Santana and Gino Noris J Hum Genet 2016 61: 781-786; advance online publication, May 19, 2016; 10.1038/jhg.2016.49 Abstract | Full Text Survey of motivation to participate in a birth cohort Midori Yamamoto, Misuzu Fujita, Chisato Mori and Akira Hata J Hum Genet 2016 61: 787-791; advance online publication, June 2, 2016; 10.1038/jhg.2016.60 Abstract | Full Text A significant association between rs8067378 at 17q12 and invasive cervical cancer originally identified by a genome-wide association study in Han Chinese is replicated in a Japanese population Kiyonori Miura, Hiroyuki Mishima, Michio Yasunami, Masanori Kaneuchi, Michio Kitajima, Shuhei Abe, Ai Higashijima, Naoki Fuchi, Shoko Miura, Koh-Ichiro Yoshiura and Hideaki Masuzaki J Hum Genet 2016 61: 793-796; advance online publication, May 19, 2016; 10.1038/jhg.2016.50 Abstract | Full Text Genotyping NUDT15 can predict the dose reduction of 6-MP for children with acute lymphoblastic leukemia especially at a preschool age Hisato Suzuki, Hiroko Fukushima, Ryoko Suzuki, Sho Hosaka, Yuni Yamaki, Chie Kobayashi, Aiko Sakai, Kazuo Imagawa, Atsushi Iwabuchi, Ai Yoshimi, Tomohei Nakao, Keisuke Kato, Masahiro Tsuchida, Nobutaka Kiyokawa, Kazutoshi Koike, Emiko Noguchi, Takashi Fukushima and Ryo Sumazaki J Hum Genet 2016 61: 797-801; advance online publication, May 19, 2016; 10.1038/jhg.2016.55 Abstract | Full Text Additive composite ABCG2, SLC2A9 and SLC22A12 scores of high-risk alleles with alcohol use modulate gout risk Hung-Pin Tu, Chia-Min Chung, Albert Min-Shan Ko, Su-Shin Lee, Han-Ming Lai, Chien-Hung Lee, Chung-Ming Huang, Chiu-Shong Liu and Ying-Chin Ko J Hum Genet 2016 61: 803-810; advance online publication, May 26, 2016; 10.1038/jhg.2016.57 Abstract | Full Text Expanding the mutation spectrum in 130 probands with ARPKD: identification of 62 novel PKHD1 mutations by sanger sequencing and MLPA analysis Salvatore Melchionda, Teresa Palladino, Stefano Castellana, Mario Giordano, Elisa Benetti, Patrizia De Bonis, Leopoldo Zelante and Luigi Bisceglia J Hum Genet 2016 61: 811-821; advance online publication, May 26, 2016; 10.1038/jhg.2016.58 Abstract | Full Text Transcript, methylation and molecular docking analyses of the effects of HDAC inhibitors, SAHA and Dacinostat, on SMN2 expression in fibroblasts of SMA patients Jafar Mohseni, Belal O Al-Najjar, Habibah A Wahab, Z A M H Zabidi-Hussin and Teguh Haryo Sasongko J Hum Genet 2016 61: 823-830; advance online publication, June 2, 2016; 10.1038/jhg.2016.61 Abstract | Full Text Short Communications Top EED-associated overgrowth in a second male patient Ana SA Cohen and William T Gibson J Hum Genet 2016 61: 831-834; advance online publication, May 19, 2016; 10.1038/jhg.2016.51 Abstract | Full Text De novo MEIS2 mutation causes syndromic developmental delay with persistent gastro-esophageal reflux Atsushi Fujita, Bertrand Isidor, Hugues Piloquet, Pierre Corre, Nobuhiko Okamoto, Mitsuko Nakashima, Yoshinori Tsurusaki, Hirotomo Saitsu, Noriko Miyake and Naomichi Matsumoto J Hum Genet 2016 61: 835-838; advance online publication, May 26, 2016; 10.1038/jhg.2016.54 Abstract | Full Text Novel HPS6 mutations identified by whole-exome sequencing in two Japanese sisters with suspected ocular albinism Daisuke Miyamichi, Miki Asahina, Junya Nakajima, Miho Sato, Katsuhiro Hosono, Takahito Nomura, Takashi Negishi, Noriko Miyake, Yoshihiro Hotta, Tsutomu Ogata and Naomichi Matsumoto J Hum Genet 2016 61: 839-842; advance online publication, May 26, 2016; 10.1038/jhg.2016.56 Abstract | Full Text Corrigendum Top Corrigendum: The paternal ancestry of Uttarakhand does not imitate the classical caste system of India Neetu Negi, Rakesh Tamang, Veena Pande, Amrita Sharma, Anish Shah, Alla G Reddy, Satti Vishnupriya, Lalji Singh, Gyaneshwer Chaubey and Kumarasamy Thangaraj J Hum Genet 2016 61: 843; 10.1038/jhg.2016.48 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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