Journal of Human Genetics - Table of Contents alert Volume 62 Issue 2

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TABLE OF CONTENTS Volume 62, Issue 2 (February 2017) In this issue Obituary Reviews Original Articles Short Communications Correspondence Corrigendum Also new AOP Sign up for e-alerts Recommend to your library Web feed Subscribe Obituary Top Ichiro Kanazawa, MD, PhD, 1941–2016 Tatsushi Toda J Hum Genet 2017 62: 133-134; advance online publication, October 13, 2016; 10.1038/jhg.2016.115 Full Text Reviews Top INPPL1 gene mutations in opsismodysplasia Anaïs Fradet and Jamie Fitzgerald J Hum Genet 2017 62: 135-140; advance online publication, October 6, 2016; 10.1038/jhg.2016.119 Abstract | Full Text Role of miRNAs in the pathogenesis and susceptibility of diabetes mellitus Naoko Hashimoto and Tomoaki Tanaka J Hum Genet 2017 62: 141-150; advance online publication, December 8, 2016; 10.1038/jhg.2016.150 Abstract | Full Text Original Articles Top Genetic screening of the FLCN gene identify six novel variants and a Danish founder mutation Maria Rossing, Anders Albrechtsen, Anne-Bine Skytte, Uffe B Jensen, Lilian B Ousager, Anne-Marie Gerdes, Finn C Nielsen and Thomas vO Hansen J Hum Genet 2017 62: 151-157; advance online publication, October 13, 2016; 10.1038/jhg.2016.118 Abstract | Full Text Missing genetic variations in GNE myopathy: rearrangement hotspots encompassing 5′UTR and founder allele Wenhua Zhu, Satomi Mitsuhashi, Takahiro Yonekawa, Satoru Noguchi, Josiah Chai Yui Huei, Atchayaram Nalini, Veeramani Preethish-Kumar, Masayoshi Yamamoto, Kenji Murakata, Madoka Mori-Yoshimura, Sachiko Kamada, Hiroyuki Yahikozawa, Masato Karasawa, Seigo Kimura, Fumitada Yamashita and Ichizo Nishino J Hum Genet 2017 62: 159-166; advance online publication, November 10, 2016; 10.1038/jhg.2016.134 Abstract | Full Text Comparative study of idursulfase beta and idursulfase in vitro and in vivo OPEN Chihwa Kim, Jinwook Seo, Yokyung Chung, Hyi-Jeong Ji, Jaehyeon Lee, Jongmun Sohn, Byoungju Lee and Eui-cheol Jo J Hum Genet 2017 62: 167-174; advance online publication, November 10, 2016; 10.1038/jhg.2016.133 Abstract | Full Text Genome-wide linkage and association analysis of cardiometabolic phenotypes in Hispanic Americans Jacklyn N Hellwege, Nicholette D Palmer, Latchezar Dimitrov, Jacob M Keaton, Keri L Tabb, Satria Sajuthi, Kent D Taylor, Maggie C Y Ng, Elizabeth K Speliotes, Gregory A Hawkins, Jirong Long, Yii-Der Ida Chen, Carlos Lorenzo, Jill M Norris, Jerome I Rotter, Carl D Langefeld, Lynne E Wagenknecht and Donald W Bowden J Hum Genet 2017 62: 175-184; advance online publication, August 18, 2016; 10.1038/jhg.2016.103 Abstract | Full Text Clinical and genetic features of 13 Spanish patients with KCNQ2 mutations Montesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, Sofía Gouveia, Juan J García-Peñas, Carmen Fons, Judith Armstrong, Desirée Barrios, Felícitas Díaz-Flores, Pilar Tirado, María L Couce and Luis G Gutiérrez-Solana J Hum Genet 2017 62: 185-189; advance online publication, August 18, 2016; 10.1038/jhg.2016.104 Abstract | Full Text Estimation of the risk of a qualitative phenotype: dependence on population risk Naoyuki Kamatani, Shigeo Kamitsuji, Yasuaki Akazawa, Takashi Kido and Masanori Akita J Hum Genet 2017 62: 191-198; advance online publication, August 25, 2016; 10.1038/jhg.2016.106 Abstract | Full Text Genetic diversity of two Neolithic populations provides evidence of farming expansions in North China Ye Zhang, Jiawei Li, Yongbin Zhao, Xiyan Wu, Hongjie Li, Lu Yao, Hong Zhu and Hui Zhou J Hum Genet 2017 62: 199-204; advance online publication, September 1, 2016; 10.1038/jhg.2016.107 Abstract | Full Text Novel mutations in FKBP10 in Chinese patients with osteogenesis imperfecta and their treatment with zoledronic acid Xiao-jie Xu, Fang Lv, Yi Liu, Jian-yi Wang, Dou-dou Ma, Asan , Jia-wei Wang, Li-jie Song, Yan Jiang, Ou Wang, Wei-bo Xia, Xiao-ping Xing and Mei Li J Hum Genet 2017 62: 205-211; advance online publication, August 25, 2016; 10.1038/jhg.2016.109 Abstract | Full Text A partial nuclear genome of the Jomons who lived 3000 years ago in Fukushima, Japan OPEN Hideaki Kanzawa-Kiriyama, Kirill Kryukov, Timothy A Jinam, Kazuyoshi Hosomichi, Aiko Saso, Gen Suwa, Shintaroh Ueda, Minoru Yoneda, Atsushi Tajima, Ken-ichi Shinoda, Ituro Inoue and Naruya Saitou J Hum Genet 2017 62: 213-221; advance online publication, September 1, 2016; 10.1038/jhg.2016.110 Abstract | Full Text Effect of migration patterns on maternal genetic structure: a case of Tai–Kadai migration from China to Thailand Jatupol Kampuansai, Wibhu Kutanan, Francesca Tassi, Massupa Kaewgahya, Silvia Ghirotto and Daoroong Kangwanpong J Hum Genet 2017 62: 223-228; advance online publication, September 8, 2016; 10.1038/jhg.2016.112 Abstract | Full Text Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region Sara Benito-Sanz, Alberta Belinchon-Martínez, Miriam Aza-Carmona, Carolina de la Torre, Celine Huber, Isabel González-Casado, Judith L Ross, N Simon Thomas, Andrew R Zinn, Valerie Cormier-Daire and Karen E Heath J Hum Genet 2017 62: 229-234; advance online publication, September 8, 2016; 10.1038/jhg.2016.113 Abstract | Full Text Most Martin–Bell syndrome (FMR1-related disorder) Venezuelan patients did not show CGG expansion but instead display genetic heterogeneity Yasser Vega, Sergio Arias and Irene Paradisi J Hum Genet 2017 62: 235-241; advance online publication, October 6, 2016; 10.1038/jhg.2016.114 Abstract | Full Text The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States Hemakumar M Reddy, Kyung-Ah Cho, Monkol Lek, Elicia Estrella, Elise Valkanas, Michael D Jones, Satomi Mitsuhashi, Basil T Darras, Anthony A Amato, Hart GW Lidov, Catherine A Brownstein, David M Margulies, Timothy W Yu, Mustafa A Salih, Louis M Kunkel, Daniel G MacArthur and Peter B Kang J Hum Genet 2017 62: 243-252; advance online publication, October 6, 2016; 10.1038/jhg.2016.116 Abstract | Full Text Detection of SHOX gene aberrations in routine diagnostic practice and evaluation of phenotype scoring form effectiveness Katerina Hirschfeldova, Martina Florianova, Vera Kebrdlova, Marketa Urbanova and Jitka Stekrova J Hum Genet 2017 62: 253-257; advance online publication, October 6, 2016; 10.1038/jhg.2016.117 Abstract | Full Text A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman Flavia Palombo, Nadia Al-Wardy, Guido Alberto Gnecchi Ruscone, Manuela Oppo, Mohammed Nasser Al Kindi, Andrea Angius, Khalsa Al Lamki, Giorgia Girotto, Tania Giangregorio, Matteo Benelli, Alberto Magi, Marco Seri, Paolo Gasparini, Francesco Cucca, Marco Sazzini, Mazin Al Khabori, Tommaso Pippucci and Giovanni Romeo J Hum Genet 2017 62: 259-264; advance online publication, October 13, 2016; 10.1038/jhg.2016.120 Abstract | Full Text Genetic polymorphism of nonsyndromic cleft lip with or without cleft palate is associated with developmental dyslexia in Chinese school-aged populations OPEN Bin Wang, Yuxi Zhou, Song Leng, Liyuan Zheng, Hong Lv, Fei Wang, Li-Hai Tan and Yimin Sun J Hum Genet 2017 62: 265-268; advance online publication, October 13, 2016; 10.1038/jhg.2016.121 Abstract | Full Text Contraction of fully expanded FMR1 alleles to the normal range: predisposing haplotype or rare events? Nuno Maia, Joana R Loureiro, Bárbara Oliveira, Isabel Marques, Rosário Santos, Paula Jorge and Sandra Martins J Hum Genet 2017 62: 269-275; advance online publication, October 27, 2016; 10.1038/jhg.2016.122 Abstract | Full Text Clinical evaluation and molecular screening of a large consecutive series of albino patients Lucia Mauri, Emanuela Manfredini, Alessandra Del Longo, Emanuela Veniani, Manuela Scarcello, Roberta Terrana, Adriano Egidio Radaelli, Donata Calò, Giuseppe Mingoia, Antonella Rossetti, Giovanni Marsico, Marco Mazza, Giovanni Pietro Gesu, Maria Cristina Patrosso, Silvana Penco, Elena Piozzi and Paola Primignani J Hum Genet 2017 62: 277-290; advance online publication, October 13, 2016; 10.1038/jhg.2016.123 Abstract | Full Text Novel mutation of ND4 gene identified by targeted next-generation sequencing in patient with Leigh syndrome Bing Xu, Xiyuan Li, Miaomiao Du, Chao Zhou, Hezhi Fang, Jianxin Lyu and Yanling Yang J Hum Genet 2017 62: 291-297; advance online publication, October 20, 2016; 10.1038/jhg.2016.127 Abstract | Full Text Molecular analysis of 23 Pakistani families with autosomal recessive primary microcephaly using targeted next-generation sequencing Rongrong Wang, Amjad Khan, Shirui Han and Xue Zhang J Hum Genet 2017 62: 299-304; advance online publication, October 27, 2016; 10.1038/jhg.2016.128 Abstract | Full Text Biochemical and molecular characteristics of citrin deficiency in Korean children Seak Hee Oh, Beom Hee Lee, Gu-Hwan Kim, Jin-Ho Choi, Kyung Mo Kim and Han-Wook Yoo J Hum Genet 2017 62: 305-307; advance online publication, November 10, 2016; 10.1038/jhg.2016.131 Abstract | Full Text Type and frequency of MUTYH variants in Italian patients with suspected MAP: a retrospective multicenter study Maria Teresa Ricci, Sara Miccoli, Daniela Turchetti, Davide Bondavalli, Alessandra Viel, Michele Quaia, Elisa Giacomini, Viviana Gismondi, Lupe Sanchez-Mete, Vittoria Stigliano, Aline Martayan, Filomena Mazzei, Margherita Bignami, Luigina Bonelli and Liliana Varesco J Hum Genet 2017 62: 309-315; advance online publication, November 10, 2016; 10.1038/jhg.2016.132 Abstract | Full Text Short Communications Top Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing loss Xin Zhang Cai, Ying Li, Lu Xia, Yu Peng, Chu Feng He, Lu Jiang, Yong Feng, Kun Xia, Xue Zhong Liu, Ling Yun Mei and Zheng Mao Hu J Hum Genet 2017 62: 317-320; advance online publication, August 18, 2016; 10.1038/jhg.2016.102 Abstract | Full Text No common founder for C9orf72 expansion mutation in Sweden Huei-Hsin Chiang, Charlotte Forsell, Anna-Karin Lindström, Lena Lilius, Håkan Thonberg, Inger Nennesmo and Caroline Graff J Hum Genet 2017 62: 321-324; advance online publication, August 25, 2016; 10.1038/jhg.2016.108 Abstract | Full Text A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa Mohammed Al-Bughaili, Teresa M Neuhann, Ricarda Flöttmann, Stefan Mundlos, Malte Spielmann, Uwe Kornak and Björn Fischer-Zirnsak J Hum Genet 2017 62: 325-328; advance online publication, September 8, 2016; 10.1038/jhg.2016.111 Abstract | Full Text Novel AARS2 gene mutation producing leukodystrophy: a case report Laszlo Szpisjak, Nora Zsindely, Jozsef I Engelhardt, Laszlo Vecsei, Gabor G Kovacs and Peter Klivenyi J Hum Genet 2017 62: 329-333; advance online publication, October 13, 2016; 10.1038/jhg.2016.126 Abstract | Full Text Cryptic exon activation in SLC12A3 in Gitelman syndrome Kandai Nozu, Yoshimi Nozu, Keita Nakanishi, Takao Konomoto, Tomoko Horinouchi, Akemi Shono, Naoya Morisada, Shogo Minamikawa, Tomohiko Yamamura, Junya Fujimura, Koichi Nakanishi, Takeshi Ninchoji, Hiroshi Kaito, Ichiro Morioka, Mariko Taniguchi-Ikeda, Igor Vorechovsky and Kazumoto Iijima J Hum Genet 2017 62: 335-337; advance online publication, October 27, 2016; 10.1038/jhg.2016.129 Abstract | Full Text Correspondence Top Estimating risk using multi-gene panel testing; do negative results change the risk? Steven M Sorscher J Hum Genet 2017 62: 339; advance online publication, October 13, 2016; 10.1038/jhg.2016.125 Full Text Corrigendum Top Corrigendum: A novel mutation in EED associated with overgrowth Ana S A Cohen, Beyhan Tuysuz, Yaoqing Shen, Sanjiv K Bhalla, Steven J M Jones and William T Gibson J Hum Genet 2017 62: 341-342; 10.1038/jhg.2016.156 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. 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