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Journal of Human Genetics

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IMMUNE PROFILING IN HEALTH AND DISEASE 

September 17-19, 2017 | Seattle, WA, USA

Presented by: Adaptive Biotechnologies | Nature Immunology | Nature Medicine | Nature Biotechnology

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TABLE OF CONTENTS

Volume 62, Issue 5 (April 2017)

In this issue
Editorials
Commentary
Original Articles
Short Communications
Corrigendum
Erratum

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Editorials

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A message for 2017

Naomichi Matsumoto

J Hum Genet 2017 62: 517-519; 10.1038/jhg.2017.29

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The 2016 JHG Young Scientist Award

Naomichi Matsumoto

J Hum Genet 2017 62: 521; 10.1038/jhg.2017.3

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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 data

Jurg Ott

J Hum Genet 2017 62: 523; advance online publication, February 2, 2017; 10.1038/jhg.2017.7

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Original Articles

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PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Takeshi 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

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Cryptic splice activation but not exon skipping is observed in minigene assays of dystrophin c.9361+1G>A mutation identified by NGS

Emma 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 cardiomyopathy

Nurun 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

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Detecting disease association with rare variants in case-parents studies

Yu-Mei Li and Yang Xiang

J Hum Genet 2017 62: 549-552; advance online publication, February 2, 2017; 10.1038/jhg.2017.1

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Band-like calcification with simplified gyration and polymicrogyria: report of 10 new families and identification of five novel OCLN mutations

Mohamed 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

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Rapid and cost-effective high-throughput sequencing for identification of germline mutations of BRCA1 and BRCA2

Somayeh 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

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Novel KCNB1 mutation associated with non-syndromic intellectual disability

Xénia 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

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A novel sequence variant in SFRP4 causing Pyle disease

Chelna 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 data

Chenglong 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 mutation

Jasmin 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

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Corrigendum: Novel KCNB1 mutation associated with non-syndromic intellectual disability

Xénia Latypova, Naomichi Matsumoto, Cécile Vinceslas-Muller, Stéphane Bézieau, Bertrand Isidor and Noriko Miyake

J Hum Genet 2017 62: 585; 10.1038/jhg.2017.17

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Erratum

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Erratum: PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder

Takeshi 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

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