Journal of Human Genetics - Table of Contents alert Volume 59 Issue 6

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TABLE OF CONTENTS Volume 59, Issue 6 (June 2014) 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 Human Genome Variation - now open for submissions Author benefits: Open Access Wide exposure Quality peer-review Fast publication Renowned editors Submit today at http://mts-hgv.nature.com/   Learn more about HGV at www.nature.com/hgv Commentary Top BCOR mutations and unstoppable root growth: a commentary on oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells Piranit Nik Kantaputra J Hum Genet 2014 59: 297-299; advance online publication, May 1, 2014; 10.1038/jhg.2014.31 Full Text Original Articles Top An emerging phenotype of Xq22 microdeletions in females with severe intellectual disability, hypotonia and behavioral abnormalities Toshiyuki Yamamoto, Anna Wilsdon, Shelagh Joss, Bertrand Isidor, Anna Erlandsson, Mohnish Suri, Noriko Sangu, Shino Shimada, Keiko Shimojima, Cédric Le Caignec, Lena Samuelsson and Margarita Stefanova J Hum Genet 2014 59: 300-306; advance online publication, March 20, 2014; 10.1038/jhg.2014.21 Abstract | Full Text Association study of common polymorphisms in MSRA, TFAP2B, MC4R, NRXN3, PPARGC1A, TMEM18, SEC16B, HOXB5 and OLFM4 genes with obesity-related traits among Portuguese children David Albuquerque, Clévio Nóbrega, Raquel Rodríguez-López and Licínio Manco J Hum Genet 2014 59: 307-313; advance online publication, March 27, 2014; 10.1038/jhg.2014.23 Abstract | Full Text Oculofaciocardiodental syndrome: novel BCOR mutations and expression in dental cells Thunyaporn Surapornsawasd, Takuya Ogawa, Michiko Tsuji and Keiji Moriyama J Hum Genet 2014 59: 314-320; advance online publication, April 3, 2014; 10.1038/jhg.2014.24 Abstract | Full Text Identification of KMT2D and KDM6A mutations by exome sequencing in Korean patients with Kabuki syndrome Chong Kun Cheon, Young Bae Sohn, Jung Min Ko, Yeoun Joo Lee, Ji Sun Song, Jea Woo Moon, Bo Kyoung Yang, Il Soo Ha, Eun Jung Bae, Hyun-Seok Jin and Seon-Yong Jeong J Hum Genet 2014 59: 321-325; advance online publication, April 17, 2014; 10.1038/jhg.2014.25 Abstract | Full Text Compilation of copy number variants identified in phenotypically normal and parous Japanese women Ohsuke Migita, Kayoko Maehara, Hiromi Kamura, Kei Miyakoshi, Mamoru Tanaka, Seiichi Morokuma, Kotaro Fukushima, Tomihiro Shimamoto, Shigeru Saito, Haruhiko Sago, Keiichiro Nishihama, Kosei Abe, Kazuhiko Nakabayashi, Akihiro Umezawa, Kohji Okamura and Kenichiro Hata J Hum Genet 2014 59: 326-331; advance online publication, May 1, 2014; 10.1038/jhg.2014.27 Abstract | Full Text The imprinted gene LRRTM1 mediates schizotypy and handedness in a nonclinical population Emma L Leach, Gratien Prefontaine, Peter L Hurd and Bernard J Crespi J Hum Genet 2014 59: 332-336; advance online publication, May 1, 2014; 10.1038/jhg.2014.30 Abstract | Full Text Very early-onset inflammatory bowel disease (IBD) in infancy is a different disease entity from adult-onset IBD; one form of interleukin-10 receptor mutations Jung Ok Shim and Jeong Kee Seo J Hum Genet 2014 59: 337-341; advance online publication, May 1, 2014; 10.1038/jhg.2014.32 Abstract | Full Text Short Communications Top Testing the key assumption of heritability estimates based on genome-wide genetic relatedness Dalton Conley, Mark L Siegal, Benjamin W Domingue, Kathleen Mullan Harris, Matthew B McQueen and Jason D Boardman J Hum Genet 2014 59: 342-345; advance online publication, March 6, 2014; 10.1038/jhg.2014.14 Abstract | Full Text The screening of the 3′UTR sequence of LRRK2 identified an association between the rs66737902 polymorphism and Parkinson’s disease Lucía F Cardo, Eliecer Coto, René Ribacoba, Ignacio F Mata, Germán Moris, Manuel Menéndez and Victoria Alvarez J Hum Genet 2014 59: 346-348; advance online publication, April 24, 2014; 10.1038/jhg.2014.26 Abstract | Full Text Limited evidence for adaptive evolution and functional effect of allelic variation at rs702424 in the promoter of the TAS2R16 bitter taste receptor gene in Africa Michael C Campbell, Alessia Ranciaro, Daniel Zinshteyn, Renata Rawlings-Goss, Jibril Hirbo, Simon Thompson, Dawit Woldemeskel, Alain Froment, Sabah A Omar, Jean-Marie Bodo, Thomas Nyambo, Gurja Belay, Dennis Drayna, Paul AS Breslin and Sarah A Tishkoff J Hum Genet 2014 59: 349-352; advance online publication, May 1, 2014; 10.1038/jhg.2014.29 Abstract | Full Text Mutation spectrum and phenotypic variation in nine patients with SOX2 abnormalities Junichi Suzuki, Noriyuki Azuma, Sumito Dateki, Shun Soneda, Koji Muroya, Yukiyo Yamamoto, Reiko Saito, Shinichiro Sano, Toshiro Nagai, Hiroshi Wada, Akira Endo, Tatsuhiko Urakami, Tsutomu Ogata and Maki Fukami J Hum Genet 2014 59: 353-356; advance online publication, May 8, 2014; 10.1038/jhg.2014.34 Abstract | Full Text Corrigendum Top Testing the key assumption of heritability estimates based on genome-wide genetic relatedness Dalton Conley, Mark L Siegal, Benjamin W Domingue, Kathleen Mullan Harris, Matthew B McQueen and Jason D Boardman J Hum Genet 2014 59: 357; 10.1038/jhg.2014.33 Full Text Advertisement NOW AVAILABLE: Discounts on lab equipment Savings and information - all in one place! 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