ADVANCE ONLINE PUBLICATION
The latest research papers, published online ahead of print. These online versions are definitive and may be cited using the digital object identifier (DOI).
About advance online publication
October 30 2009 |
October 23 2009 |
October 16 2009 |
October 9 2009 |
September 25 2009 |
September 18 2009 |
September 11 2009 |
September 4 2009 |
August 28 2009
November 6 2009
Original Articles
Is CFTR 621+3 A>G a cystic fibrosis causing mutation?
Monica Forzan, Leonardo Salviati, Vanessa Pertegato, Alberto Casarin, Alice Bruson, Eva Trevisson, Elena Di Gianantonio and Maurizio Clementi
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.115
Identification of 15 loci influencing height in a Korean population
Jae-Jung Kim, Hae-In Lee, Taesung Park, Kyunga Kim, Jong-Eun Lee, Nam Han Cho, Chol Shin, Yoon Shin Cho, Jong-Young Lee, Bok-Ghee Han, Han-Wook Yoo and Jong-Keuk Lee
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.116
Major contribution of dominant inheritance to autism spectrum disorders (ASDs) in population-based families
Takeshi Nishiyama, Morihiro Notohara, Satoshi Sumi, Satoshi Takami and Hirohisa Kishino
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.105
Mutant alleles associated with late-onset ornithine transcarbamylase deficiency in male patients have recurrently arisen and have been retained in some populations
Sanae Numata, Yoshiro Koda, Kenji Ihara, Tomo Sawada, Yoshiyuki Okano, Toshinobu Matsuura, Fumio Endo, Han-Wook Yoo, Jose A Arranz, Vicente Rubio, Bendicht Wermuth, Nicholas Ah Mew, Mendel Tuchman, Jason R Pinner, Edwin P Kirk and Makoto Yoshino
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.113
No influence of FAT polymorphisms in response to aripiprazole
Chi-Un Pae, Alberto Chiesa, Laura Mandelli, Diana De Ronchi and Alessandro Serretti
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.117
Short Communication
A novel nonsense mutation in a Japanese family with ataxia with oculomotor apraxia type 2 (AOA2)
Katsuya Nakamura, Kunihiro Yoshida, Hideo Makishita, Eiko Kitamura, Shiori Hashimoto and Shu-ichi Ikeda
J Hum Genet advance online publication, November 6, 2009; doi:10.1038/jhg.2009.104
October 30 2009
Original Articles
Polyalanine expansion of PHOX2B in congenital central hypoventilation syndrome: rs17884724:A>C is associated with 7-alanine expansion
Hiroko Arai, Tesshu Otagiri, Ayako Sasaki, Kazuo Umetsu and Kiyoshi Hayasaka
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.109
Human chitotriosidase polymorphism is associated with human longevity in Mediterranean nonagenarians and centenarians
Lucia Malaguarnera, Luca Nnawuihe Ohazuruike, Christina Tsianaka, Tijana Antic, Michelino Di Rosa and Mariano Malaguarnera
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.111
hOGG1 Ser326Cys polymorphism and risk of lung cancer by histological type
Toshiki Okasaka, Keitaro Matsuo, Takeshi Suzuki, Hidemi Ito, Satoyo Hosono, Takakazu Kawase, Miki Watanabe, Yasushi Yatabe, Toyoaki Hida, Tetsuya Mitsudomi, Hideo Tanaka, Kohei Yokoi and Kazuo Tajima
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.108
Association analysis of COMT polymorphisms with schizophrenia and smooth pursuit eye movement abnormality
Byung Lae Park, Hyoung Doo Shin, Hyun Sub Cheong, Chul Soo Park, Jin-Wook Sohn, Bong-Jo Kim, Han-Kil Seo, Jae Won Kim, Ki-Hoon Kim, Tae-Min Shin, Ihn-Geun Choi, Shin Gyeom Kim and Sung-Il Woo
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.102
Common genetic variants in pre-microRNAs are associated with risk of coal workers' pneumoconiosis
Meilin Wang, Yang Ye, Haiyang Qian, Zhifang Song, Xiaomin Jia, Zhengdong Zhang, Jianwei Zhou and Chunhui Ni
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.112
International web-based survey of informed consent procedures in genetic epidemiological studies: towards the establishment of a research coordinator accreditation system
Midori Yamamoto, Makiko Funamizu, Kaori Muto and Akira Hata
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.103
Mutation analysis in the long isoform of USH2A in American patients with Usher Syndrome type II
Denise Yan, Xiaomei Ouyang, D Michael Patterson, Li Lin Du, Samuel G Jacobson and Xue-Zhong Liu
J Hum Genet advance online publication, October 30, 2009; doi:10.1038/jhg.2009.107
October 23 2009
Review
Meta-analysis of genetic association studies: methodologies, between-study heterogeneity and winner's curse
Hirofumi Nakaoka and Ituro Inoue
J Hum Genet advance online publication, October 23, 2009; doi:10.1038/jhg.2009.95
Original Articles
Association between obesity and polymorphisms in SEC16B, TMEM18, GNPDA2, BDNF, FAIM2 and MC4R in a Japanese population
Kikuko Hotta, Michihiro Nakamura, Takahiro Nakamura, Tomoaki Matsuo, Yoshio Nakata, Seika Kamohara, Nobuyuki Miyatake, Kazuaki Kotani, Ryoya Komatsu, Naoto Itoh, Ikuo Mineo, Jun Wada, Hiroaki Masuzaki, Masato Yoneda, Atsushi Nakajima, Tohru Funahashi, Shigeru Miyazaki, Katsuto Tokunaga, Manabu Kawamoto, Takato Ueno, Kazuyuki Hamaguchi, Kiyoji Tanaka, Kentaro Yamada, Toshiaki Hanafusa, Shinichi Oikawa, Hironobu Yoshimatsu, Kazuwa Nakao, Toshiie Sakata, Yuji Matsuzawa, Naoyuki Kamatani and Yusuke Nakamura
J Hum Genet advance online publication, October 23, 2009; doi:10.1038/jhg.2009.106
No association between a promoter NOS1 polymorphism (rs41279104) and Infantile Hypertrophic Pyloric Stenosis
Kristina Lagerstedt-Robinson, Anna Svenningsson and Agneta Nordenskjöld
J Hum Genet advance online publication, October 23, 2009; doi:10.1038/jhg.2009.101
October 16 2009
Original Articles
Molecular features of 23 patients with glycogen storage disease type III in Turkey: a novel mutation p.R1147G associated with isolated glucosidase deficiency, along with 9 AGL mutations
Yoshiko Aoyama, Isil Ozer, Mubeccel Demirkol, Tetsu Ebara, Toshio Murase, Teodor Podskarbi, Yoon S Shin, Gulden Gokcay and Minoru Okubo
J Hum Genet advance online publication, October 16, 2009; doi:10.1038/jhg.2009.100
Thalamic transcriptome screening in three psychiatric states
Tearina T Chu, Yuexun Liu and Eileen Kemether
J Hum Genet advance online publication, October 16, 2009; doi:10.1038/jhg.2009.93
A great diversity of Amerindian mitochondrial DNA ancestry is present in the Mexican mestizo population
Mariano Guardado-Estrada, Eligia Juarez-Torres, Ingrid Medina-Martinez, Ana Wegier, Antonio Macías, Guillermo Gomez, Fernando Cruz-Talonia, Edgar Roman-Bassaure, Daniel Piñero, Susana Kofman-Alfaro and Jaime Berumen
J Hum Genet advance online publication, October 16, 2009; doi:10.1038/jhg.2009.98
Replication of CD58 and CLEC16A as genome-wide significant risk genes for multiple sclerosis
Ilse A Hoppenbrouwers, Yurii S Aulchenko, A Cecile Janssens, Sreeram V Ramagopalan, Linda Broer, Manfred Kayser, George C Ebers, Ben A Oostra, Cornelia M van Duijn and Rogier Q Hintzen
J Hum Genet advance online publication, October 16, 2009; doi:10.1038/jhg.2009.96
Short Communication
Evaluation of genetic loci influencing adult height in the Japanese population
Fumihiko Takeuchi, Toru Nabika, Masato Isono, Tomohiro Katsuya, Takao Sugiyama, Shuhei Yamaguchi, Shotai Kobayashi, Yukio Yamori, Toshio Ogihara and Norihiro Kato
J Hum Genet advance online publication, October 16, 2009; doi:10.1038/jhg.2009.99
October 9 2009
Review
The era of genome-wide association studies: opportunities and challenges for asthma genetics
Guicheng Zhang, Jack Goldblatt and Peter Lesouëf
J Hum Genet advance online publication, October 9, 2009; doi:10.1038/jhg.2009.97
September 25 2009
Original Article
Novel CACNA1S mutation causes autosomal dominant hypokalemic periodic paralysis in a South American family
Tie Ke, Cladelis Rubio Gomez, Heidi Eliana Mateus, Juan Andres Castano and Qing Kenneth Wang
J Hum Genet advance online publication, September 25, 2009; doi:10.1038/jhg.2009.92
September 18 2009
Original Article
mtDNA G10398A variant in African-American women with breast cancer provides resistance to apoptosis and promotes metastasis in mice
Mariola Kulawiec, Kjerstin M Owens and Keshav K Singh
J Hum Genet advance online publication, September 18, 2009; doi:10.1038/jhg.2009.89
September 11 2009
Original Article
Polymorphisms and haplotypes in TLR9 and MYD88 are associated with the development of Hodgkin's lymphoma: a candidate–gene association study
Vassiliki Mollaki, Thomas Georgiadis, Anna Tassidou, Maria Ioannou, Zoe Daniil, Aggeliki Koutsokera, Aphrodite A Papathanassiou, Elias Zintzaras and George Vassilopoulos
J Hum Genet advance online publication, September 11, 2009; doi:10.1038/jhg.2009.90
Correspondence
ACTA2 is not a major disease-causing gene for moyamoya disease
Keiko Shimojima and Toshiyuki Yamamoto
J Hum Genet advance online publication, September 11, 2009; doi:10.1038/jhg.2009.91
September 4 2009
Original Article
Serotonin 1A receptor gene and major depressive disorder: an association study and meta-analysis
Taro Kishi, Tomoko Tsunoka, Masashi Ikeda, Kunihiro Kawashima, Tomo Okochi, Tsuyoshi Kitajima, Yoko Kinoshita, Takenori Okumura, Yoshio Yamanouchi, Toshiya Inada, Norio Ozaki and Nakao Iwata
J Hum Genet advance online publication, September 4, 2009; doi:10.1038/jhg.2009.84
August 28 2009
Original Article
Validation of eight genetic risk factors in East Asian populations replicated the association of BRAP with coronary artery disease
Kunihiko Hinohara, Hitoshi Ohtani, Toshiaki Nakajima, Taishi Sasaoka, Motoji Sawabe, Bok-Soo Lee, Jimin Ban, Jeong-Euy Park, Tohru Izumi and Akinori Kimura
J Hum Genet advance online publication, August 28, 2009; doi:10.1038/jhg.2009.87
