Journal of Human Genetics - Table of Contents alert Volume 61 Issue 5

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TABLE OF CONTENTS Volume 61, Issue 5 (May 2016) In this issue Original Articles Short Communications Also new AOP Advertisement   THE GENOMICS OF COMMON DISEASES 2016 Presented by Nature Genetics in association with the Wellcome Trust September 25-28, 2016 Renaissance Baltimore Harborplace Hotel | Baltimore, MD, USA REGISTER NOW! Sign up for e-alerts Recommend to your library Web feed Subscribe Advertisement nature.com webcasts Nature Publishing Group presents a custom webcast on: Resolving the "dark matter" of the exome: Using linked reads and exome bait capture to map NGS short reads differentially to genes versus their paralogous segments Thursday June 2, 2016 11AM Pacific Time, 2PM Eastern Time  Register for the webcast and live Q&A session Sponsored by: 10x Genomics   Original Articles Top KOHBRA BRCA risk calculator (KOHCal): a model for predicting BRCA1 and BRCA2 mutations in Korean breast cancer patients Eunyoung Kang, Sue K Park, Jong Won Lee, Zisun Kim, Woo-Chul Noh, Yongsik Jung, Jung-Hyun Yang, Sung Hoo Jung and Sung-Won Kim on behalf of Korean Hereditary Breast Cancer Study Group J Hum Genet 2016 61: 365-371; advance online publication, January 14, 2016; 10.1038/jhg.2015.164 Abstract | Full Text Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations Faravareh Khordadpoor-Deilamani, Mohammad Taghi Akbari, Morteza Karimipoor and Gholam Reza Javadi J Hum Genet 2016 61: 373-379; advance online publication, January 28, 2016; 10.1038/jhg.2015.167 Abstract | Full Text De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures Ryoko Fukai, Hirotomo Saitsu, Yoshinori Tsurusaki, Yasunari Sakai, Kazuhiro Haginoya, Kazumasa Takahashi, Monika Weisz Hubshman, Nobuhiko Okamoto, Mitsuko Nakashima, Fumiaki Tanaka, Noriko Miyake and Naomichi Matsumoto J Hum Genet 2016 61: 381-387; advance online publication, January 28, 2016; 10.1038/jhg.2016.1 Abstract | Full Text Investigation of associations between ten polymorphisms and the risk of coronary artery disease in Southern Han Chinese Er-Wen Huang, Long-Yun Peng, Jin-Xiang Zheng, Dan Wang, Xiao-Hong Tan, Zhong-Yi Yang, Xue-Mei Li, Qiu-Ping Wu, Shuang-Bo Tang, Bin Luo, Li Quan, Shui-Ping Liu, Xiao-Shan Liu, Zhao-Hui Li, He Shi, Guo-Li Lv, Jian Zhao, Chao Liu and Jian-Ding Cheng J Hum Genet 2016 61: 389-393; advance online publication, January 7, 2016; 10.1038/jhg.2015.158 Abstract | Full Text A patient with a novel homozygous missense mutation in FTO and concomitant nonsense mutation in CETP Ahmet O Çağlayan, Beyhan Tüysüz, Süleyman Coşkun, Jennifer Quon, Akdes S Harmancı, Jacob F Baranoski, Burçin Baran, E Zeynep Erson-Omay, Octavian Henegariu, Shrikant M Mane, Kaya Bilgüvar, Katsuhito Yasuno and Murat Günel J Hum Genet 2016 61: 395-403; advance online publication, January 7, 2016; 10.1038/jhg.2015.160 Abstract | Full Text Effect of obesity on the association between MYL2 (rs3782889) and high-density lipoprotein cholesterol among Korean men Eo Rin Cho, Yon Ho Jee, Sang Won Kim and Jae Woong Sull J Hum Genet 2016 61: 405-409; advance online publication, January 14, 2016; 10.1038/jhg.2015.165 Abstract | Full Text Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controls Mitchell J Machiela, Weiyin Zhou, Neil Caporaso, Michael Dean, Susan M Gapstur, Lynn Goldin, Victoria L Stevens, Meredith Yeager and Stephen J Chanock J Hum Genet 2016 61: 411-418; advance online publication, January 14, 2016; 10.1038/jhg.2015.166 Abstract | Full Text Frequency of Usher syndrome type 1 in deaf children by massively parallel DNA sequencing OPEN Hidekane Yoshimura, Maiko Miyagawa, Kozo Kumakawa, Shin-ya Nishio and Shin-ichi Usami J Hum Genet 2016 61: 419-422; advance online publication, January 21, 2016; 10.1038/jhg.2015.168 Abstract | Full Text Genome-wide association study reveals sex-specific selection signals against autosomal nucleotide variants Dongchan Ryu, Jihye Ryu and Chaeyoung Lee J Hum Genet 2016 61: 423-426; advance online publication, January 14, 2016; 10.1038/jhg.2015.169 Abstract | Full Text Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglyceride Makoto Kurano, Kazuhisa Tsukamoto, Shigeo Kamitsuji, Naoyuki Kamatani, Masumi Hara, Toshio Ishikawa, Bong-Jo Kim, Sanghoon Moon, Young Jin Kim and Tamio Teramoto J Hum Genet 2016 61: 427-433; advance online publication, January 14, 2016; 10.1038/jhg.2015.170 Abstract | Full Text A functional SNP in FLT1 increases risk of coronary artery disease in a Japanese population Atsuko Konta, Kouichi Ozaki, Yasuhiko Sakata, Atsushi Takahashi, Takashi Morizono, Shinichiro Suna, Yoshihiro Onouchi, Tatsuhiko Tsunoda, Michiaki Kubo, Issei Komuro, Yoshinobu Eishi and Toshihiro Tanaka J Hum Genet 2016 61: 435-441; advance online publication, January 21, 2016; 10.1038/jhg.2015.171 Abstract | Full Text Short Communications Top Tibial hemimelia associated with GLI3 truncation Steven Deimling, Chris Sotiropoulos, Kimberly Lau, Sonia Chaudhry, Kendra Sturgeon, Simon Kelley, Unni Narayanan, Andrew Howard, Chi-chung Hui and Sevan Hopyan J Hum Genet 2016 61: 443-446; advance online publication, January 21, 2016; 10.1038/jhg.2015.161 Abstract | Full Text Identification of a novel mutation confirms the implication of IFT172 (BBS20) in Bardet–Biedl syndrome Elise Schaefer, Corinne Stoetzel, Sophie Scheidecker, Véronique Geoffroy, Megana K Prasad, Claire Redin, Isabelle Missotte, Didier Lacombe, Jean-Louis Mandel, Jean Muller and Hélène Dollfus J Hum Genet 2016 61: 447-450; advance online publication, January 14, 2016; 10.1038/jhg.2015.162 Abstract | Full Text De novo missense mutations in NALCN cause developmental and intellectual impairment with hypotonia Ryoko Fukai, Hirotomo Saitsu, Nobuhiko Okamoto, Yasunari Sakai, Aviva Fattal-Valevski, Shiina Masaaki, Yukihiro Kitai, Michiko Torio, Kanako Kojima-Ishii, Kenji Ihara, Veronika Chernuha, Mitsuko Nakashima, Satoko Miyatake, Fumiaki Tanaka, Noriko Miyake and Naomichi Matsumoto J Hum Genet 2016 61: 451-455; advance online publication, January 14, 2016; 10.1038/jhg.2015.163 Abstract | Full Text Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene Aleksander Jamsheer, Anna Sowińska-Seidler, Ewelina M Olech, Magdalena Socha, Kazimierz Kozłowski, Antoni Pyrkosz, Tomasz Trzeciak, Anna Materna-Kiryluk and Anna Latos-Bieleńska J Hum Genet 2016 61: 457-461; advance online publication, January 14, 2016; 10.1038/jhg.2015.172 Abstract | Full Text Familial retinoblastoma due to intronic LINE-1 insertion causes aberrant and noncanonical mRNA splicing of the RB1 gene Carlos Rodríguez-Martín, Florencia Cidre, Ana Fernández-Teijeiro, Gema Gómez-Mariano, Leticia de la Vega, Patricia Ramos, Ángel Zaballos, Sara Monzón and Javier Alonso J Hum Genet 2016 61: 463-466; advance online publication, January 14, 2016; 10.1038/jhg.2015.173 Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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