Journal of Human Genetics - Table of Contents alert Volume 62 Issue 4

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TABLE OF CONTENTS Volume 62, Issue 4 (April 2017) In this issue Review Original Articles Short Communications Also new AOP Advertisement Human Genome Variation is an online, open access journal with accompanying database.   Submit your next manuscript to Human Genome Variation and benefit from: - Quality peer-review and fast decision times - High visibility for your research - Now included within PubMed - Article Processing Charge for Data Reports now waived Learn more >> Sign up for e-alerts Recommend to your library Web feed Subscribe Review Top Comprehensive genotyping in dyslipidemia: mendelian dyslipidemias caused by rare variants and Mendelian randomization studies using common variants Hayato Tada, Masa-aki Kawashiri and Masakazu Yamagishi J Hum Genet 2017 62: 453-458; advance online publication, January 5, 2017; 10.1038/jhg.2016.159 Abstract | Full Text Original Articles Top Comparison of the phenotypes of patients harboring in-frame deletions starting at exon 45 in the Duchenne muscular dystrophy gene indicates potential for the development of exon skipping therapy Akinori Nakamura, Naoko Shiba, Daigo Miyazaki, Hitomi Nishizawa, Yuji Inaba, Noboru Fueki, Rika Maruyama, Yusuke Echigoya and Toshifumi Yokota J Hum Genet 2017 62: 459-463; advance online publication, December 15, 2016; 10.1038/jhg.2016.152 Abstract | Full Text Kaufman oculo-cerebro-facial syndrome in a child with small and absent terminal phalanges and absent nails Ariana Kariminejad, Norbert Fonya Ajeawung, Bita Bozorgmehr, Alexandre Dionne-Laporte, Sirinart Molidperee, Kimia Najafi, Richard A Gibbs, Brendan H Lee, Raoul C Hennekam and Philippe M Campeau J Hum Genet 2017 62: 465-471; advance online publication, December 22, 2016; 10.1038/jhg.2016.151 Abstract | Full Text TBCD may be a causal gene in progressive neurodegenerative encephalopathy with atypical infantile spinal muscular atrophy Toshio Ikeda, Akihiko Nakahara, Rie Nagano, Maiko Utoyama, Megumi Obara, Hiroshi Moritake, Tamayo Uechi, Jun Mitsui, Hiroyuki Ishiura, Jun Yoshimura, Koichiro Doi, Naoya Kenmochi, Shinichi Morishita, Ichizo Nishino, Shoji Tsuji and Hiroyuki Nunoi J Hum Genet 2017 62: 473-480; advance online publication, December 8, 2016; 10.1038/jhg.2016.149 Abstract | Full Text Association of a single nucleotide polymorphism upstream of ICOS with Japanese autoimmune hepatitis type 1 Takashi Higuchi, Shomi Oka, Hiroshi Furukawa, Minoru Nakamura, Atsumasa Komori, Seigo Abiru, Shinya Nagaoka, Satoru Hashimoto, Atsushi Naganuma, Noriaki Naeshiro, Kaname Yoshizawa, Masaaki Shimada, Hideo Nishimura, Minoru Tomizawa, Masahiro Kikuchi, Fujio Makita, Haruhiro Yamashita, Keisuke Ario, Hiroshi Yatsuhashi, Shigeto Tohma, Aya Kawasaki, Hiromasa Ohira, Naoyuki Tsuchiya and Kiyoshi Migita J Hum Genet 2017 62: 481-484; advance online publication, December 15, 2016; 10.1038/jhg.2016.155 Abstract | Full Text Genome-wide association study using the ethnicity-specific Japonica array: identification of new susceptibility loci for cold medicine-related Stevens–Johnson syndrome with severe ocular complications OPEN Mayumi Ueta, Hiromi Sawai, Ryosei Shingaki, Yusuke Kawai, Chie Sotozono, Kaname Kojima, Kyung-Chul Yoon, Mee Kum Kim, Kyoung Yul Seo, Choun-Ki Joo, Masao Nagasaki, Shigeru Kinoshita and Katsushi Tokunaga J Hum Genet 2017 62: 485-489; advance online publication, January 19, 2017; 10.1038/jhg.2016.160 Abstract | Full Text Variants on chromosome 4q21 near PKD2 and SIBLINGs are associated with dental caries Scott Eckert, Eleanor Feingold, Margaret Cooper, Michael M Vanyukov, Brion S Maher, Rebecca L Slayton, Marcia C Willing, Steven E Reis, Daniel W McNeil, Richard J Crout, Robert J Weyant, Steven M Levy, Alexandre R Vieira, Mary L Marazita and John R Shaffer J Hum Genet 2017 62: 491-496; advance online publication, January 19, 2017; 10.1038/jhg.2016.161 Abstract | Full Text Short Communications Top Recessive PIEZO2 stop mutation causes distal arthrogryposis with distal muscle weakness, scoliosis and proprioception defects Goknur Haliloglu, Kerstin Becker, Cagri Temucin, Beril Talim, Nalan Küçükşahin, Matthias Pergande, Susanne Motameny, Peter Nürnberg, Ustun Aydingoz, Haluk Topaloglu and Sebahattin Cirak J Hum Genet 2017 62: 497-501; advance online publication, December 15, 2016; 10.1038/jhg.2016.153 Abstract | Full Text Axial spondylometaphyseal dysplasia is also caused by NEK1 mutations Zheng Wang, Eva Horemuzova, Aritoshi Iida, Long Guo, Ying Liu, Naomichi Matsumoto, Gen Nishimura, Ann Nordgren, Noriko Miyake, Emma Tham, Giedre Grigelioniene and Shiro Ikegawa J Hum Genet 2017 62: 503-506; advance online publication, January 26, 2017; 10.1038/jhg.2016.157 Abstract | Full Text Norrbottnian clinical variant of Gaucher disease in Southern Italy Simona Sestito, Mirella Filocamo, Ferdinando Ceravolo, Francesca Falvo, Michele Grisolia, Maria Teresa Moricca, Renato Cantaffa, Serena Grossi, Pietro Strisciuglio and Daniela Concolino J Hum Genet 2017 62: 507-511; advance online publication, December 22, 2016; 10.1038/jhg.2016.158 Abstract | Full Text Novel GATAD2B loss-of-function mutations cause intellectual disability in two unrelated cases Xiaomei Luo, Yongyi Zou, Bo Tan, Yue Zhang, Jing Guo, Lanlan Zeng, Rui Zhang, Hu Tan, Xianda Wei, Yiqiao Hu, Yu Zheng, Desheng Liang and Lingqian Wu J Hum Genet 2017 62: 513-516; advance online publication, January 12, 2017; 10.1038/jhg.2016.164 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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