Journal of Human Genetics

EDITORIAL		Top
A message for 2016 Naomichi Matsumoto Editor-in-Chief J Hum Genet 2016 61: 467-469; 10.1038/jhg.2016.41 Full Text
COMMENTARY		Top
A commentary on the novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies Marco Lucarelli J Hum Genet 2016 61: 471-472; advance online publication, April 21, 2016; 10.1038/jhg.2016.34 Full Text
ORIGINAL ARTICLES		Top
The novel complex allele [A238V;F508del] of the CFTR gene: clinical phenotype and possible implications for cystic fibrosis etiological therapies Anna Diana, Angela Maria Polizzi, Teresa Santostasi, Luigi Ratclif, Maria Giuseppina Pantaleo, Giuseppina Leonetti, Danila Rosa Iusco, Crescenzio Gallo, Massimo Conese and Antonio Manca J Hum Genet 2016 61: 473-481; advance online publication, February 25, 2016; 10.1038/jhg.2016.15 Abstract | Full Text
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutations OPEN Mariko Okubo, Narihiro Minami, Kanako Goto, Yuichi Goto, Satoru Noguchi, Satomi Mitsuhashi and Ichizo Nishino J Hum Genet 2016 61: 483-489; advance online publication, February 25, 2016; 10.1038/jhg.2016.7 Abstract | Full Text
Y chromosome haplotype diversity in Mongolic-speaking populations and gene conversion at the duplicated STR DYS385a,b in haplogroup C3-M407 Boris A Malyarchuk, Miroslava Derenko, Galina Denisova, Marcin Woźniak, Urszula Rogalla, Irina Dambueva and Tomasz Grzybowski J Hum Genet 2016 61: 491-496; advance online publication, February 25, 2016; 10.1038/jhg.2016.14 Abstract | Full Text
New massive parallel sequencing approach improves the genetic characterization of congenital myopathies Jorge Oliveira, Ana Gonçalves, Ricardo Taipa, Manuel Melo-Pires, Márcia E Oliveira, José Luís Costa, José Carlos Machado, Elmira Medeiros, Teresa Coelho, Manuela Santos, Rosário Santos and Mário Sousa J Hum Genet 2016 61: 497-505; advance online publication, February 4, 2016; 10.1038/jhg.2016.2 Abstract | Full Text
Charting the Y-chromosome ancestry of present-day Argentinean Mennonites Ulises Toscanini, Francesca Brisighelli, Cintia Llull, Gabriela Berardi, Andrea Gómez, Fernando Andreatta, Jacobo Pardo-Seco, Alberto Gómez-Carballa, Federico Martinón-Torres, Vanesa Álvarez-Iglesias and Antonio Salas J Hum Genet 2016 61: 507-513; advance online publication, February 4, 2016; 10.1038/jhg.2016.3 Abstract | Full Text
Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India Ashraf U Mannan, Jaya Singh, Ravikiran Lakshmikeshava, Nishita Thota, Suhasini Singh, T S Sowmya, Avshesh Mishra, Aditi Sinha, Shivani Deshwal, Megha R Soni, Anbukayalvizhi Chandrasekar, Bhargavi Ramesh, Bharat Ramamurthy, Shila Padhi, Payal Manek, Ravi Ramalingam, Suman Kapoor, Mithua Ghosh, Satish Sankaran, Arunabha Ghosh, Vamsi Veeramachaneni, Preveen Ramamoorthy, Ramesh Hariharan and Kalyanasundaram Subramanian J Hum Genet 2016 61: 515-522; advance online publication, February 25, 2016; 10.1038/jhg.2016.4 Abstract | Full Text
Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancy Michiko Muraoka, Chiho Okuma, Kiichiro Kanamitsu, Hisashi Ishida, Yui Kanazawa, Kana Washio, Masafumi Seki, Motohiro Kato, Junko Takita, Yusuke Sato, Seishi Ogawa, Hirokazu Tsukahara, Megumi Oda and Akira Shimada J Hum Genet 2016 61: 523-526; advance online publication, February 25, 2016; 10.1038/jhg.2016.8 Abstract | Full Text
Milder progressive cerebellar atrophy caused by biallelic SEPSECS mutations Kazuhiro Iwama, Masayuki Sasaki, Shinichi Hirabayashi, Chihiro Ohba, Emi Iwabuchi, Satoko Miyatake, Mitsuko Nakashima, Noriko Miyake, Shuichi Ito, Hirotomo Saitsu and Naomichi Matsumoto J Hum Genet 2016 61: 527-531; advance online publication, February 18, 2016; 10.1038/jhg.2016.9 Abstract | Full Text
NAT2 variants are associated with drug-induced liver injury caused by anti-tuberculosis drugs in Indonesian patients with tuberculosis Rika Yuliwulandari, Retno Wilujeng Susilowati, Britanto Dani Wicaksono, Kencono Viyati, Kinasih Prayuni, Intan Razari, Erna Kristin, Syafrizal , Subagyo , Eva Sri Diana, Suci Setiawati, Aziza Ariyani, Surakameth Mahasirimongkol, Hideki Yanai, Taisei Mushiroda and Katsushi Tokunaga J Hum Genet 2016 61: 533-537; advance online publication, February 25, 2016; 10.1038/jhg.2016.10 Abstract | Full Text
Two novel mutations in TMEM38B result in rare autosomal recessive osteogenesis imperfecta Fang Lv, Xiao-jie Xu, Jian-yi Wang, Yi Liu, Asan , Jia-wei Wang, Li-jie Song, Yu-wen Song, Yan Jiang, Ou Wang, Wei-bo Xia, Xiao-ping Xing and Mei Li J Hum Genet 2016 61: 539-545; advance online publication, February 25, 2016; 10.1038/jhg.2016.11 Abstract | Full Text
Human genetic variation database, a reference database of genetic variations in the Japanese population OPEN Koichiro Higasa, Noriko Miyake, Jun Yoshimura, Kohji Okamura, Tetsuya Niihori, Hirotomo Saitsu, Koichiro Doi, Masakazu Shimizu, Kazuhiko Nakabayashi, Yoko Aoki, Yoshinori Tsurusaki, Shinichi Morishita, Takahisa Kawaguchi, Osuke Migita, Keiko Nakayama, Mitsuko Nakashima, Jun Mitsui, Maiko Narahara, Keiko Hayashi, Ryo Funayama, Daisuke Yamaguchi, Hiroyuki Ishiura, Wen-Ya Ko, Kenichiro Hata, Takeshi Nagashima, Ryo Yamada, Yoichi Matsubara, Akihiro Umezawa, Shoji Tsuji, Naomichi Matsumoto and Fumihiko Matsuda J Hum Genet 2016 61: 547-553; advance online publication, February 25, 2016; 10.1038/jhg.2016.12 Abstract | Full Text
Enigmatic in vivo GlcNAc-1-phosphotransferase (GNPTG) transcript correction to wild type in two mucolipidosis III gamma siblings homozygous for nonsense mutations Renata Voltolini Velho, Nataniel Floriano Ludwig, Taciane Alegra, Fernanda Sperb-Ludwig, Nicole Ruas Guarany, Ursula Matte and Ida V D Schwartz J Hum Genet 2016 61: 555-560; advance online publication, March 3, 2016; 10.1038/jhg.2016.13 Abstract | Full Text
SHORT COMMUNICATIONS		Top
SOFT syndrome caused by compound heterozygous mutations of POC1A and its skeletal manifestation Jung Min Ko, Soyoon Jung, Jieun Seo, Choong Ho Shin, Hae Il Cheong, Murim Choi, Ok-Hwa Kim and Tae-Joon Cho J Hum Genet 2016 61: 561-564; advance online publication, January 21, 2016; 10.1038/jhg.2015.174 Abstract | Full Text
Establishment of isogenic iPSCs from an individual with SCN1A mutation mosaicism as a model for investigating neurocognitive impairment in Dravet syndrome Hiroshi Maeda, Tomohiro Chiyonobu, Michiko Yoshida, Satoshi Yamashita, Masashi Zuiki, Satoshi Kidowaki, Kenichi Isoda, Kazuhiro Yamakawa, Masafumi Morimoto, Tatsutoshi Nakahata, Megumu K Saito and Hajime Hosoi J Hum Genet 2016 61: 565-569; advance online publication, February 4, 2016; 10.1038/jhg.2016.5 Abstract | Full Text
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegia Lena Willkomm, Raul Heredia, Katrin Hoffmann, Haicui Wang, Thomas Voit, Eric P Hoffman and Sebahattin Cirak J Hum Genet 2016 61: 571-573; advance online publication, February 18, 2016; 10.1038/jhg.2016.6 Abstract | Full Text

Alexandros Sfakianakis
Anapafseos 5 . Agios Nikolaos
Crete.Greece.72100
2841026182

6948891480

alsfakia@gmail.com