Advertisement | | | | |
TABLE OF CONTENTS
| | | | Volume 62, Issue 5 (April 2017) | | In this issue Editorials Commentary Original Articles Short Communications Corrigendum Erratum
Also new AOP
| | | | Editorials | Top | | A message for 2017Naomichi Matsumoto J Hum Genet 2017 62: 517-519; 10.1038/jhg.2017.29 Full Text | | | | The 2016 JHG Young Scientist AwardNaomichi Matsumoto J Hum Genet 2017 62: 521; 10.1038/jhg.2017.3 Full Text | | Commentary | Top | | To aggregate or not, that is the question. A commentary on single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing dataJurg Ott J Hum Genet 2017 62: 523; advance online publication, February 2, 2017; 10.1038/jhg.2017.7 Full Text | | Original Articles | Top | | PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto J Hum Genet 2017 62: 525-529; advance online publication, January 12, 2017; 10.1038/jhg.2016.163 Abstract | Full Text | | Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGSEmma Tabe Eko Niba, Atsushi Nishida, Van Khanh Tran, Dung Chi Vu, Masaaki Matsumoto, Hiroyuki Awano, Tomoko Lee, Yasuhiro Takeshima, Hisahide Nishio and Masafumi Matsuo J Hum Genet 2017 62: 531-537; advance online publication, January 19, 2017; 10.1038/jhg.2016.162 Abstract | Full Text | | A novel mutation in TAZ causes mitochondrial respiratory chain disorder without cardiomyopathyNurun N Borna, Yoshihito Kishita, Kaori Ishikawa, Kazuto Nakada, Jun-Ichi Hayashi, Yoshimi Tokuzawa, Masakazu Kohda, Hiromi Nyuzuki, Yzumi Yamashita-Sugahara, Takashi Nasu, Atsuhito Takeda, Kei Murayama, Akira Ohtake and Yasushi Okazaki J Hum Genet 2017 62: 539-547; advance online publication, January 26, 2017; 10.1038/jhg.2016.165 Abstract | Full Text | | Detecting disease association with rare variants in case-parents studiesYu-Mei Li and Yang Xiang J Hum Genet 2017 62: 549-552; advance online publication, February 2, 2017; 10.1038/jhg.2017.1 Abstract | Full Text | | Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutationsMohamed S Abdel-Hamid, Ghada M H Abdel-Salam, Mahmoud Y Issa, Bayoumi A Emam and Maha S Zaki J Hum Genet 2017 62: 553-559; advance online publication, February 9, 2017; 10.1038/jhg.2017.4 Abstract | Full Text | | Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2Somayeh Ahmadloo, Hirofumi Nakaoka, Takahide Hayano, Kazuyoshi Hosomichi, Hua You, Emi Utsuno, Takafumi Sangai, Motoi Nishimura, Kazuyuki Matsushita, Akira Hata, Fumio Nomura and Ituro Inoue J Hum Genet 2017 62: 561-567; advance online publication, February 9, 2017; 10.1038/jhg.2017.5 Abstract | Full Text | | Short Communications | Top | | Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor and Noriko Miyake J Hum Genet 2017 62: 569-573; advance online publication, December 8, 2016; 10.1038/jhg.2016.154 Abstract | Full Text | | A novel sequence variant in SFRP4 causing Pyle diseaseChelna Galada, Hitesh Shah, Anju Shukla and Katta M Girisha J Hum Genet 2017 62: 575-576; advance online publication, January 19, 2017; 10.1038/jhg.2016.166 Abstract | Full Text | | Single-nucleotide variant proportion in genes: a new concept to explore major depression based on DNA sequencing dataChenglong Yu, Bernhard T Baune, Julio Licinio and Ma-Li Wong J Hum Genet 2017 62: 577-580; advance online publication, February 2, 2017; 10.1038/jhg.2017.2 Abstract | Full Text | | New diagnosis of atypical ataxia-telangiectasia in a 17-year-old boy with T-cell acute lymphoblastic leukemia and a novel ATM mutationJasmin Roohi, Jennifer Crowe, Denis Loredan, Kwame Anyane-Yeboa, Mahesh M Mansukhani, Lenore Omesi, Jennifer Levine, Anya Revah Politi and Shan Zha J Hum Genet 2017 62: 581-584; advance online publication, January 26, 2017; 10.1038/jhg.2017.6 Abstract | Full Text | | Corrigendum | Top | | Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disabilityXénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor and Noriko Miyake J Hum Genet 2017 62: 585; 10.1038/jhg.2017.17 Full Text | | Erratum | Top | | Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorderTakeshi Mizuguchi, Mitsuko Nakashima, Mitsuhiro Kato, Keitaro Yamada, Tohru Okanishi, Nina Ekhilevitch, Hanna Mandel, Ayelet Eran, Miyuki Toyono, Yukio Sawaishi, Hirotaka Motoi, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Noriko Miyake, Hirotomo Saitsu and Naomichi Matsumoto J Hum Genet 2017 62: 587; advance online publication, February 16, 2017; 10.1038/jhg.2017.13 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 | | | | | | | | 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. For other enquiries, please contact our customer feedback department. Springer Nature |One New York Plaza, Suite 4500 | New York | NY 10004-1562 | USA Springer Nature's worldwide offices: London - Paris - Munich - New Delhi - Tokyo - Melbourne San Diego - San Francisco - Washington - New York - Boston Macmillan Publishers Limited is a company incorporated in England and Wales under company number 785998 and whose registered office is located at The Campus, 4 Crinan Street, London, N1 9XW. © 2017 Macmillan Publishers Limited, part of Springer Nature. All Rights Reserved. | | | | |
No comments:
Post a Comment