Journal of Human Genetics - Table of Contents alert Volume 62 Issue 3

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TABLE OF CONTENTS Volume 62, Issue 3 (March 2017) In this issue Original Articles Short Communications Also new AOP Advertisement Human Genome Variation (HGV) 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 waived now Learn more >> Sign up for e-alerts Recommend to your library Web feed Subscribe Original Articles Top Mitochondrial DNA diversity of present-day Aboriginal Australians and implications for human evolution in Oceania Nano Nagle, Kaye N Ballantyne, Mannis van Oven, Chris Tyler-Smith, Yali Xue, Stephen Wilcox, Leah Wilcox, Rust Turkalov, Roland A H van Oorschot, Sheila van Holst Pellekaan, Theodore G Schurr, Peter McAllister, Lesley Williams, Manfred Kayser, R John Mitchell and The Genographic Consortium J Hum Genet 2017 62: 343-353; advance online publication, December 1, 2016; 10.1038/jhg.2016.147 Abstract | Full Text Genotype and phenotype characterization in a Spanish cohort with isovaleric acidemia María L Couce, Luís Aldamiz-Echevarría, María A Bueno, Patricia Barros, Amaya Belanger-Quintana, Javier Blasco, María-Teresa García-Silva, Ana M Márquez-Armenteros, Isidro Vitoria, Inmaculada Vives, Rosa Navarrete, Ana Fernández-Marmiesse, Belén Pérez and Celia Pérez-Cerdá J Hum Genet 2017 62: 355-360; advance online publication, December 1, 2016; 10.1038/jhg.2016.144 Abstract | Full Text Phylogenetic and population-based approaches to mitogenome variation do not support association with male infertility Alberto Gómez-Carballa, Jacobo Pardo-Seco, Federico Martinón-Torres and Antonio Salas J Hum Genet 2017 62: 361-371; advance online publication, December 1, 2016; 10.1038/jhg.2016.130 Abstract | Full Text Gender-dependent and age-of-onset-specific association of the rs11675434 single-nucleotide polymorphism near TPO with susceptibility to Graves’ ophthalmopathy Aleksander Kuś, Konrad Szymański, Beata Jurecka-Lubieniecka, Edyta Pawlak-Adamska, Dorota Kula, Piotr Miśkiewicz, Marek Bolanowski, Rafał Płoski, Artur Bossowski, Jacek Daroszewski, Barbara Jarząb and Tomasz Bednarczuk J Hum Genet 2017 62: 373-377; advance online publication, November 10, 2016; 10.1038/jhg.2016.135 Abstract | Full Text Comparison between CaGene 5.1 and 6.0 for BRCA1/2 mutation prediction: a retrospective study of 150 BRCA1/2 genetic tests in 517 families with breast/ovarian cancer Ivana Antonucci, Martina Provenzano, Luca Sorino, Michela Balsamo, Gitana Maria Aceto, Pasquale Battista, David Euhus, Ettore Cianchetti, Patrizia Ballerini, Clara Natoli, Giandomenico Palka and Liborio Stuppia J Hum Genet 2017 62: 379-387; advance online publication, December 8, 2016; 10.1038/jhg.2016.138 Abstract | Full Text Association of IL12B risk haplotype and lack of interaction with HLA-Cw6 among the psoriasis patients in India Aditi Chandra, Swapan Senapati, Saurabh Ghosh, Gobinda Chatterjee and Raghunath Chatterjee J Hum Genet 2017 62: 389-395; advance online publication, November 10, 2016; 10.1038/jhg.2016.139 Abstract | Full Text Comparison of exome-based HLA class I genotyping tools: identification of platform-specific genotyping errors OPEN Kazuma Kiyotani, Tu H Mai and Yusuke Nakamura J Hum Genet 2017 62: 397-405; advance online publication, November 24, 2016; 10.1038/jhg.2016.141 Abstract | Full Text Genetic trail for the early migrations of Aisin Gioro, the imperial house of the Qing dynasty Lan-Hai Wei, Shi Yan, Ge Yu, Yun-Zhi Huang, Da-Li Yao, Shi-Lin Li, Li Jin and Hui Li J Hum Genet 2017 62: 407-411; advance online publication, November 17, 2016; 10.1038/jhg.2016.142 Abstract | Full Text A combined linkage and association strategy identifies a variant near the GSTP1 gene associated with BMI in the Mexican population Hugo Villamil-Ramírez, Paola León-Mimila, Luis R Macias-Kauffer, Adrián Canizalez-Román, Marisela Villalobos-Comparán, Nidia León-Sicairos, Joel Vega-Badillo, Fausto Sánchez-Muñoz, Blanca López-Contreras, Sofía Morán-Ramos, Teresa Villarreal-Molina, Luis C Zurita, Francisco Campos-Pérez, Adriana Huertas-Vazquez, Rafael Bojalil, Sandra Romero-Hidalgo, Carlos A Aguilar-Salinas and Samuel Canizales-Quinteros J Hum Genet 2017 62: 413-418; advance online publication, November 24, 2016; 10.1038/jhg.2016.145 Abstract | Full Text The investigation of the origin of Southern Tunisians using HLA genes Abdelhafidh Hajjej, Wassim Y Almawi, Lasmar Hattab, Amel El-Gaaied and Slama Hmida J Hum Genet 2017 62: 419-429; advance online publication, November 24, 2016; 10.1038/jhg.2016.146 Abstract | Full Text HMSN Lom in 12 Czech patients, with one unusual case due to uniparental isodisomy of chromosome 8 Dana Šafka Brožková, Jaroslava Paulasová Schwabová, Jana Neupauerová, Jana Sabová, Marcela Krůtová, Vladimír Peřina, Marie Trková, Petra Laššuthová and Pavel Seeman J Hum Genet 2017 62: 431-435; advance online publication, December 22, 2016; 10.1038/jhg.2016.148 Abstract | Full Text Short Communications Top Identification of a novel LRRK1 mutation in a family with osteosclerotic metaphyseal dysplasia Long Guo, Katta M Girisha, Aritoshi Iida, Malavika Hebbar, Anju Shukla, Hitesh Shah, Gen Nishimura, Naomichi Matsumoto, Shifa Nismath, Noriko Miyake and Shiro Ikegawa J Hum Genet 2017 62: 437-441; advance online publication, November 10, 2016; 10.1038/jhg.2016.136 Abstract | Full Text Late-onset episodic ataxia associated with SLC1A3 mutation Kwang-Dong Choi, Joanna C Jen, Seo Young Choi, Jin-Hong Shin, Hyang-Sook Kim, Hyo-Jung Kim, Ji-Soo Kim and Jae-Hwan Choi J Hum Genet 2017 62: 443-446; advance online publication, November 10, 2016; 10.1038/jhg.2016.137 Abstract | Full Text Novel and recurrent XYLT1 mutations in two Turkish families with Desbuquois dysplasia, type 2 Long Guo, Nursel H Elcioglu, Aritoshi Iida, Yasemin K Demirkol, Seda Aras, Naomichi Matsumoto, Gen Nishimura, Noriko Miyake and Shiro Ikegawa J Hum Genet 2017 62: 447-451; advance online publication, November 24, 2016; 10.1038/jhg.2016.143 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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