Journal of Human Genetics - Table of Contents alert Volume 63 Issue 4

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TABLE OF CONTENTS Volume 63, Issue 4 In this issue Editorial Article Brief Communication Correspondence Correction Also new AOP   Editorial A message for 2018 Naomichi Matsumoto Journal of Human Genetics 2018 63 :393 - 396; March 26, 2018; 10.1038/s10038-018-0417-z   Abstract | Full Text Article Association of CDKAL1 nucleotide variants with the risk of non-syndromic cleft lip with or without cleft palate Agnieszka Gaczkowska, Kacper Zukowski, Barbara Biedziak, Kamil K. Hozyasz, Piotr Wójcicki et al. Journal of Human Genetics 2018 63 :397 - 406; February 05, 2018; 10.1038/s10038-017-0397-4   Abstract | Full Text Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and ß-thalassemia genotyping Fei He, Wanjun Zhou, Ren Cai, Tizhen Yan & Xiangmin Xu Journal of Human Genetics 2018 63 :407 - 416; February 13, 2018; 10.1038/s10038-018-0411-5   Abstract | Full Text Cerebellar ataxia-dominant phenotype in patients with ERCC4 mutations Hiroshi Doi, Shigeru Koyano, Satoko Miyatake, Shinji Nakajima, Yuka Nakazawa et al. Journal of Human Genetics 2018 63 :417 - 423; February 05, 2018; 10.1038/s10038-017-0408-5   Abstract | Full Text A homozygous NOP14 variant is likely to cause recurrent pregnancy loss Toshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, Mansoor Salehi, Masaaki Shiina et al. Journal of Human Genetics 2018 63 :425 - 430; February 13, 2018; 10.1038/s10038-018-0410-6   Abstract | Full Text A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders Mohsen Ghanbari, Marjolein J. Peters, Paul S. de Vries, Cindy G. Boer, Jeroen G. J. van Rooij et al. Journal of Human Genetics 2018 63 :431 - 446; January 30, 2018; 10.1038/s10038-017-0403-x   Abstract | Full Text Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan Masami Arai, Shiro Yokoyama, Chie Watanabe, Reiko Yoshida, Mizuho Kita et al. Journal of Human Genetics 2017 63 :447 - 457; November 08, 2017; 10.1038/s10038-017-0355-1   Abstract | Full Text DNA methylation of TOMM40-APOE-APOC2 in Alzheimer’s disease Yvonne Shao, McKenzie Shaw, Kaitlin Todd, Maria Khrestian, Giana D’Aleo et al. Journal of Human Genetics 2018 63 :459 - 471; January 25, 2018; 10.1038/s10038-017-0393-8   Abstract | Full Text Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations Elzbieta Ciara, Dariusz Rokicki, Michal Lazniewski, Hanna Mierzewska, Elzbieta Jurkiewicz et al. Journal of Human Genetics 2018 63 :473 - 485; February 06, 2018; 10.1038/s10038-017-0401-z   Abstract | Full Text A novel homozygous DPH1 mutation causes intellectual disability and unique craniofacial features Futoshi Sekiguchi, Jafar Nasiri, Maryam Sedghi, Mansoor Salehi, Majid Hosseinzadeh et al. Journal of Human Genetics 2018 63 :487 - 491; February 06, 2018; 10.1038/s10038-017-0404-9   Abstract | Full Text Genetic variation in populations from central Argentina based on mitochondrial and Y chromosome DNA evidence Angelina García, Maia Pauro, Graciela Bailliet, Claudio M. Bravi & Darío A. Demarchi Journal of Human Genetics 2018 63 :493 - 507; January 29, 2018; 10.1038/s10038-017-0406-7   Abstract | Full Text Genetic cluster of fragile X syndrome in a Colombian district Wilmar Saldarriaga, Jose Vicente Forero-Forero, Laura Yuriko González-Teshima, Andrés Fandiño-Losada, Carolina Isaza et al. Journal of Human Genetics 2018 63 :509 - 516; January 29, 2018; 10.1038/s10038-017-0407-6   Abstract | Full Text Brief Communication Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome Robert Smigiel, Anna Biernacka, Mateusz Biela, Victor Murcia-Pienkowski, Elzbieta Szmida et al. Journal of Human Genetics 2018 63 :517 - 520; February 06, 2018; 10.1038/s10038-017-0391-x   Abstract | Full Text Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia Pengfei Lin, Dong Zhang, Guangrun Xu & Chuanzhu Yan Journal of Human Genetics 2018 63 :521 - 524; January 23, 2018; 10.1038/s10038-017-0394-7   Abstract | Full Text Mitochondrial involvement in a Bosch-Boonstra-Schaaf optic atrophy syndrome patient with a novel de novo NR2F1 gene mutation Elena Martín-Hernández, María Elena Rodríguez-García, Chun-An Chen, Francisco Javier Cotrina-Vinagre, Patricia Carnicero-Rodríguez et al. Journal of Human Genetics 2018 63 :525 - 528; February 06, 2018; 10.1038/s10038-017-0398-3   Abstract | Full Text Novel compound heterozygous DPH1 mutations in a patient with the unique clinical features of airway obstruction and external genital abnormalities Junya Nakajima, Shingo Oana, Tomohiro Sakaguchi, Mitsuko Nakashima, Hironao Numabe et al. Journal of Human Genetics 2018 63 :529 - 532; January 23, 2018; 10.1038/s10038-017-0399-2   Abstract | Full Text Correspondence A 1000 Arab genome project to study the Emirati population Mariam Al-Ali, Wael Osman, Guan K. Tay & Habiba S. AlSafar Journal of Human Genetics 2018 63 :533 - 536; February 06, 2018; 10.1038/s10038-017-0402-y   Abstract | Full Text The inclusion of genomic data in the 2015 revision of Japan’s Protection of Personal Information Act: protection of wider range of genomic data as our next challenge Natsuko Yamamoto, Takanori Fujita, Minae Kawashima, Joshua Wittig, Masatomo Suzuki et al. Journal of Human Genetics 2018 63 :537 - 538; January 29, 2018; 10.1038/s10038-017-0409-4   Abstract | Full Text Correction Correction: Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features Iris H. I. M. Hollink, Majid Alfadhel, Anwar S. Al-Wakeel, Farough Ababneh, Rolph Pfundt et al. Journal of Human Genetics 2018 63 :539 - 539; March 08, 2018; 10.1038/s10038-017-0373-z   Abstract | Full Text Correction: Genetic and clinical characteristics in Japanese hereditary breast and ovarian cancer: first report after establishment of HBOC registration system in Japan Masami Arai, Shiro Yokoyama, Chie Watanabe, Reiko Yoshida, Mizuho Kita et al. Journal of Human Genetics 2018 63 :541 - 542; January 31, 2018; 10.1038/s10038-017-0395-6   Abstract | Full Text Natureevents is a fully searchable, multi-disciplinary database designed to maximise exposure for events organisers. 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