Journal of Human Genetics - Table of Contents alert Volume 60 Issue 9

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A commentary on decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants Yskert von Kodolitsch and Kerstin Kutsche J Hum Genet 2015 60: 465-466; advance online publication, July 30, 2015; 10.1038/jhg.2015.95 Full Text Original Articles Top Two novel splicing mutations in the SLC45A2 gene cause Oculocutaneous Albinism Type IV by unmasking cryptic splice sites Letizia Straniero, Valeria Rimoldi, Giulia Soldà, Lucia Mauri, Emanuela Manfredini, Elena Andreucci, Sara Bargiacchi, Silvana Penco, Giovanni P Gesu, Alessandra Del Longo, Elena Piozzi, Rosanna Asselta and Paola Primignani J Hum Genet 2015 60: 467-471; advance online publication, May 28, 2015; 10.1038/jhg.2015.56 Abstract | Full Text Genotype–phenotype relationship in Japanese patients with congenital central hypoventilation syndrome Tomoyuki Shimokaze, Ayako Sasaki, Toru Meguro, Hisaya Hasegawa, Yuka Hiraku, Tetsushi Yoshikawa, Yumiko Kishikawa and Kiyoshi Hayasaka J Hum Genet 2015 60: 473-477; advance online publication, June 11, 2015; 10.1038/jhg.2015.65 Abstract | Full Text Genetic analysis of common variants in the HDAC2 gene with schizophrenia susceptibility in Han Chinese Gang Chen, Fanglin Guan, Huali Lin, Lu Li and Dongke Fu J Hum Genet 2015 60: 479-484; advance online publication, June 11, 2015; 10.1038/jhg.2015.66 Abstract | Full Text Evaluation of PARKIN gene variants in West Bengal Parkinson’s disease patients Jaya Sanyal, Arpita Jana, Epsita Ghosh, Tapas K Banerjee, Durga P Chakraborty and Vadlamudi R Rao J Hum Genet 2015 60: 485-492; advance online publication, May 28, 2015; 10.1038/jhg.2015.49 Abstract | Full Text Genome-wide signatures of male-mediated migration shaping the Indian gene pool GaneshPrasad ArunKumar, Tatiana V Tatarinova, Jeff Duty, Debra Rollo, Adhikarla Syama, Varatharajan Santhakumari Arun, Valampuri John Kavitha, Petr Triska, Bennett Greenspan, R Spencer Wells, Ramasamy Pitchappan and The Genographic Consortium J Hum Genet 2015 60: 493-499; advance online publication, May 21, 2015; 10.1038/jhg.2015.51 Abstract | Full Text Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiency Jin-Ho Choi, Beom Hee Lee, Ja Hye Kim, Gu-Hwan Kim, Yoo-Mi Kim, Jahyang Cho, Chong-Kun Cheon, Jung Min Ko, Jung Hyun Lee and Han-Wook Yoo J Hum Genet 2015 60: 501-507; advance online publication, May 21, 2015; 10.1038/jhg.2015.54 Abstract | Full Text Compound heterozygous GFM2 mutations with Leigh syndrome complicated by arthrogryposis multiplex congenita Shinobu Fukumura, Chihiro Ohba, Toshihide Watanabe, Kimio Minagawa, Masaru Shimura, Kei Murayama, Akira Ohtake, Hirotomo Saitsu, Naomichi Matsumoto and Hiroyuki Tsutsumi J Hum Genet 2015 60: 509-513; advance online publication, May 28, 2015; 10.1038/jhg.2015.57 Abstract | Full Text Awareness, attitudes and perspectives of direct-to-consumer genetic testing in Greece: a survey of potential consumers Vasiliki Mavroidopoulou, Ellie Xera and Vasiliki Mollaki J Hum Genet 2015 60: 515-523; advance online publication, June 4, 2015; 10.1038/jhg.2015.58 Abstract | Full Text Disease susceptibility genes shared by primary biliary cirrhosis and Crohn’s disease in the Japanese population Yoshihiro Aiba, Keiko Yamazaki, Nao Nishida, Minae Kawashima, Yuki Hitomi, Hitomi Nakamura, Atsumasa Komori, Yuta Fuyuno, Atsushi Takahashi, Takaaki Kawaguchi, Masakazu Takazoe, Yasuo Suzuki, Satoshi Motoya, Toshiyuki Matsui, Motohiro Esaki, Takayuki Matsumoto, Michiaki Kubo, Katsushi Tokunaga and Minoru Nakamura J Hum Genet 2015 60: 525-531; advance online publication, June 18, 2015; 10.1038/jhg.2015.59 Abstract | Full Text Admixture mapping of genetic variants for uterine fibroids Kui Zhang, Howard Wiener and Brahim Aissani J Hum Genet 2015 60: 533-538; advance online publication, June 4, 2015; 10.1038/jhg.2015.60 Abstract | Full Text Chaperone therapy for Krabbe disease: potential for late-onset GALC mutations Mohammad Arif Hossain, Katsumi Higaki, Seiji Saito, Kazuki Ohno, Hitoshi Sakuraba, Eiji Nanba, Yoshiyuki Suzuki, Keiichi Ozono and Norio Sakai J Hum Genet 2015 60: 539-545; advance online publication, June 25, 2015; 10.1038/jhg.2015.61 Abstract | Full Text A stepwise strategy for rapid and cost-effective RB1 screening in Indian retinoblastoma patients Kannan Thirumalairaj, Aloysius Abraham, Bharanidharan Devarajan, Namrata Gaikwad, Usha Kim, Veerappan Muthukkaruppan and Ayyasamy Vanniarajan J Hum Genet 2015 60: 547-552; advance online publication, June 18, 2015; 10.1038/jhg.2015.62 Abstract | Full Text Short Communications Top Rare pseudoautosomal copy-number variations involving SHOX and/or its flanking regions in individuals with and without short stature Maki Fukami, Yasuhiro Naiki, Koji Muroya, Takashi Hamajima, Shun Soneda, Reiko Horikawa, Tomoko Jinno, Momori Katsumi, Akie Nakamura, Yumi Asakura, Masanori Adachi, Tsutomu Ogata, Susumu Kanzaki and The Japanese SHOX study group J Hum Genet 2015 60: 553-556; advance online publication, June 4, 2015; 10.1038/jhg.2015.53 Abstract | Full Text mtDNA diversity of the Zapotec in Mexico suggests a population decline long before the first contact with Europeans Jun Gojobori, Fuzuki Mizuno, Li Wang, Keisuke Onishi, Julio Granados, Celta Gomez-Trejo, Víctor Acuña-Alonzo and Shintaroh Ueda J Hum Genet 2015 60: 557-559; advance online publication, May 21, 2015; 10.1038/jhg.2015.55 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. The contents of the Natureevents Directory are now live. The digital version is available here. Find the latest scientific conferences, courses, meetings and symposia on natureevents.com. For event advertising opportunities across the Nature Publishing Group portfolio please contact natureevents@nature.com More Nature Events Please note that you need to be a subscriber or site-licence holder to enjoy full-text access to Journal of Human Genetics. In order to do so, please purchase a subscription. You have been sent this Table of Contents Alert because you have opted in to receive it. You can change or discontinue your e-mail alerts at any time, by modifying your preferences on your nature.com account at: www.nature.com/nams/svc/myaccount (You will need to log in to be recognised as a nature.com registrant). For further technical assistance, please contact our registration department. For print subscription enquiries, please contact our subscription department. 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