Journal of Human Genetics - Table of Contents alert Volume 60 Issue 12

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Original Articles Top Evaluation of a two-step iterative resampling procedure for internal validation of genome-wide association studies Guolian Kang, Wei Liu, Cheng Cheng, Carmen L Wilson, Geoffrey Neale, Jun J Yang, Kirsten K Ness, Leslie L Robison, Melissa M Hudson and Deo Kumar Srivastava J Hum Genet 2015 60: 729-738; advance online publication, September 17, 2015; 10.1038/jhg.2015.110 Abstract | Full Text De novo KIF1A mutations cause intellectual deficit, cerebellar atrophy, lower limb spasticity and visual disturbance Chihiro Ohba, Kazuhiro Haginoya, Hitoshi Osaka, Kazuo Kubota, Akihiko Ishiyama, Takuya Hiraide, Hirofumi Komaki, Masayuki Sasaki, Satoko Miyatake, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Fumiaki Tanaka, Hirotomo Saitsu and Naomichi Matsumoto J Hum Genet 2015 60: 739-742; advance online publication, September 10, 2015; 10.1038/jhg.2015.108 Abstract | Full Text BMPER variants associated with a novel, attenuated subtype of diaphanospondylodysostosis Zheyuan Zong, Susan Tees, Firoz Miyanji, Clarissa Fauth, Christopher Reilly, Elena Lopez, Stephen Tredwell, Yigal Paul Goldberg, Allen Delaney, Patrice Eydoux, Margot Van Allen and Anna Lehman J Hum Genet 2015 60: 743-747; advance online publication, October 15, 2015; 10.1038/jhg.2015.116 Abstract | Full Text Cytidine deaminase polymorphisms and worse treatment response in normal karyotype AML Lyoung Hyo Kim, Hyun Sub Cheong, Youngil Koh, Kwang-Sung Ahn, Chansu Lee, Hyung-Lae Kim, Hyoung Doo Shin and Sung-Soo Yoon J Hum Genet 2015 60: 749-754; advance online publication, September 10, 2015; 10.1038/jhg.2015.105 Abstract | Full Text Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study Jin Li, Leslie A Lange, Jeremy Sabourin, Qing Duan, William Valdar, Monte S Willis, Yun Li, James G Wilson and Ethan M Lange J Hum Genet 2015 60: 755-761; advance online publication, September 17, 2015; 10.1038/jhg.2015.107 Abstract | Full Text Hereditary spastic paraplegia with recessive trait caused by mutation in KLC4 gene Fatih Bayrakli, Hatice Gamze Poyrazoglu, Sirin Yuksel, Cengiz Yakicier, Bekir Erguner, Mahmut Samil Sagiroglu, Betul Yuceturk, Bugra Ozer, Selim Doganay, Bahattin Tanrikulu, Askin Seker, Fatih Akbulut, Ali Ozen, Huseyin Per, Sefer Kumandas, Yasemin Altuner Torun, Yasar Bayri, Mustafa Sakar, Adnan Dagcinar and Ibrahim Ziyal J Hum Genet 2015 60: 763-768; advance online publication, October 1, 2015; 10.1038/jhg.2015.109 Abstract | Full Text A pilot study of gene testing of genetic bone dysplasia using targeted next-generation sequencing Huiwen Zhang, Rui Yang, Yu Wang, Jun Ye, Lianshu Han, Wenjuan Qiu and Xuefan Gu J Hum Genet 2015 60: 769-776; advance online publication, September 17, 2015; 10.1038/jhg.2015.112 Abstract | Full Text Short Communications Top 625 kb microduplication at Xp22.12 including RPS6KA3 in a child with mild intellectual disability Veronica Bertini, Francesca Cambi, Rossella Bruno, Benedetta Toschi, Francesca Forli, Stefano Berrettini, Paolo Simi and Angelo Valetto J Hum Genet 2015 60: 777-780; advance online publication, September 10, 2015; 10.1038/jhg.2015.106 Abstract | Full Text Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome Jill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, Naomi Bowers, Jill Clayton-Smith and William G Newman J Hum Genet 2015 60: 781-785; advance online publication, September 17, 2015; 10.1038/jhg.2015.111 Abstract | Full Text Corrigendum Top Y-chromosome distributions among populations in Northwest China identify significant contribution from Central Asian pastoralists and lesser influence of western Eurasians Wei-Hua Shou, En-Fa Qiao, Chuan-Yu Wei, Yong-Li Dong, Si-Jie Tan, Hong Shi, Wen-Ru Tang and Chun-Jie Xiao J Hum Genet 2015 60: 787; 10.1038/jhg.2015.77 Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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