Journal of Human Genetics - Table of Contents alert Volume 60 Issue 4

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TABLE OF CONTENTS Volume 60, Issue 4 (April 2015) In this issue Review Original Articles Short Communications Correspondence Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement Introducing HGV Database  The HGV Database is a fully searchable online database of genome variations published in peer-reviewed Data Reports in Human Genome Variation Search and filter by specific disease, gene, region, population. Try it now Review Top SPTAN1 encephalopathy: distinct phenotypes and genotypes Jun Tohyama, Mitsuko Nakashima, Shin Nabatame, Ch'ng Gaik-Siew, Rie Miyata, Zvonka Rener-Primec, Mitsuhiro Kato, Naomichi Matsumoto and Hirotomo Saitsu J Hum Genet 2015 60: 167-173; advance online publication, January 29, 2015; 10.1038/jhg.2015.5 Abstract | Full Text Original Articles Top Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach Satoko Miyatake, Eriko Koshimizu, Atsushi Fujita, Ryoko Fukai, Eri Imagawa, Chihiro Ohba, Ichiro Kuki, Megumi Nukui, Atsushi Araki, Yoshio Makita, Tsutomu Ogata, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto J Hum Genet 2015 60: 175-182; advance online publication, January 22, 2015; 10.1038/jhg.2014.124 Abstract | Full Text Prenatal and postnatal findings in a 10.6 Mb interstitial deletion at 10p11.22-p12.31 Simona Sosoi, Ioana Streata, Stefania Tudorache, Florin Burada, Mirela Siminel, Nicolae Cernea, Mihai Ioana, Dominic Gabriel Iliescu and Francisc Mixich J Hum Genet 2015 60: 183-185; advance online publication, February 5, 2015; 10.1038/jhg.2015.4 Abstract | Full Text A Japanese case of cerebellar ataxia, spastic paraparesis and deep sensory impairment associated with a novel homozygous TTC19 mutation Misako Kunii, Hiroshi Doi, Yuichi Higashiyama, Chiharu Kugimoto, Naohisa Ueda, Junichi Hirata, Atsuko Tomita-Katsumoto, Mari Kashikura-Kojima, Shun Kubota, Midori Taniguchi, Kei Murayama, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Naomichi Matsumoto and Fumiaki Tanaka J Hum Genet 2015 60: 187-191; advance online publication, February 5, 2015; 10.1038/jhg.2015.7 Abstract | Full Text Genetic diversity of disease-associated loci in Turkish population Sefayet Karaca, Tomris Cesuroglu, Mehmet Karaca, Sema Erge and Renato Polimanti J Hum Genet 2015 60: 193-198; advance online publication, February 26, 2015; 10.1038/jhg.2015.8 Abstract | Full Text Short Communications Top Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2 Panagiotis I Sergouniotis, Jill E Urquhart, Simon G Williams, Sanjeev S Bhaskar, Graeme C Black, Simon C Lovell, David J Whitby, William G Newman and Jill Clayton-Smith J Hum Genet 2015 60: 199-202; advance online publication, January 15, 2015; 10.1038/jhg.2014.122 Abstract | Full Text Identical deletion at 14q13.3 including PAX9 and NKX2-1 in siblings from mosaicism of unaffected parent Shin Hayashi, Mariko Yagi, Ichijiro Morisaki and Johji Inazawa J Hum Genet 2015 60: 203-206; advance online publication, January 22, 2015; 10.1038/jhg.2014.123 Abstract | Full Text Novel microduplications at Xp11.22 including HUWE1: clinical and molecular insights into these genomic rearrangements associated with intellectual disability Cíntia Barros Santos-Rebouças, Luciana Guedes de Almeida, Stefanie Belet, Suely Rodrigues dos Santos, Márcia Gonçalves Ribeiro, Antônio Francisco Alves da Silva, Enrique Medina-Acosta, Jussara Mendonça dos Santos, Andressa Pereira Gonçalves, Paulo Roberto Valle Bahia, Márcia Mattos Gonçalves Pimentel and Guy Froyen J Hum Genet 2015 60: 207-211; advance online publication, February 5, 2015; 10.1038/jhg.2015.1 Abstract | Full Text Rare cases of congenital arthrogryposis multiplex caused by novel recurrent CHRNG mutations Jieun Seo, In-Ho Choi, Je Sang Lee, Yongjin Yoo, Nayoung KD Kim, Murim Choi, Jung Min Ko and Yong Beom Shin J Hum Genet 2015 60: 213-215; advance online publication, January 22, 2015; 10.1038/jhg.2015.2 Abstract | Full Text Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome Kishin Koh, Fumikazu Kobayashi, Michiaki Miwa, Kazumasa Shindo, Eiji Isozaki, Hiroyuki Ishiura, Shoji Tsuji and Yoshihisa Takiyama J Hum Genet 2015 60: 217-220; advance online publication, January 29, 2015; 10.1038/jhg.2015.3 Abstract | Full Text NF1 single and multi-exons copy number variations in neurofibromatosis type 1 Apolline Imbard, Eric Pasmant, Audrey Sabbagh, Armelle Luscan, Magali Soares, Philippe Goussard, Hélène Blanché, Ingrid Laurendeau, Salah Ferkal, Michel Vidaud, Stéphane Pinson, Christine Bellanne-Chantelot, Dominique Vidaud, Pierre Wolkenstein, the members of the NF France Network and Béatrice Parfait J Hum Genet 2015 60: 221-224; advance online publication, January 29, 2015; 10.1038/jhg.2015.6 Abstract | Full Text Correspondence Top How should the legal framework for the protection of human genomic data be formulated?—Implications from the revision processes of the Act on the Protection of Personal Information (PPI Act) Natsuko Yamamoto, Minae Kawashima, Takanori Fujita, Masatomo Suzuki and Kazuto Kato J Hum Genet 2015 60: 225-226; advance online publication, January 15, 2015; 10.1038/jhg.2014.121 Full Text Advertisement Presented by Adaptive Biotechnologies, Nature Immunology, Nature Medicine, Nature Biotechnology, and Nature Genetics IMMUNE PROFILING IN HEALTH AND DISEASE September 9-11, 2015 | Seattle, WA, USA  REGISTER NOW!  Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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