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EDITOR'S CHOICE
The Journal of Human Genetics is proud to present a collection of top reviews and original articles from recent years, as chosen by the editor. This collection covers a range of topics, including the functional analysis of disease-causing genes, polymorphisms of disease-associated genes, statistical genetics, pharmacogenetics, medical genetics and the genetics of multifactorial disease. Complementing this collection, the January issue also includes the latest reviews and articles on various aspects of human genetics.
Polymorphisms of disease-associated gene |
Pharmacogenetics |
Medical genetics |
Genetics of multifactorial disease |
Statistical genetics |
functional analysis of disease-causing gene
Functional analysis of PTPN11/SHP-2 mutants identified in Noonan syndrome and childhood leukemia FREE
Tetsuya Niihori, Yoko Aoki, Hirofumi Ohashi, Kenji Kurosawa, Tatsuro Kondoh, Satoshi Ishikiriyama, Hiroshi Kawame, Hotaka Kamasaki, Tsutomu Yamanaka, Fumio Takada, Kimio Nishio, Masahiro Sakurai, Hiroshi Tamai, Tatsuro Nagashima, Yoichi Suzuki, Shigeo Kure, Kunihiro Fujii, Masue Imaizumi and Yoichi Matsubara
J. Hum. Genet. 50: 192–202; doi:10.1007/s10038-005-0239-7 (2005)
polymorphisms of disease-associated gene
Ethnic differences in allele frequency of autoimmune-disease-associated SNPs FREE
Mikako Mori, Ryo Yamada, Kyoko Kobayashi, Reimi Kawaida and Kazuhiko Yamamoto
J. Hum. Genet. 50: 264–266; doi:10.1007/s10038-005-0246-8 (2005)
pharmacogenetics
Association of VKORC1 and CYP2C9 polymorphisms with warfarin dose requirements in Japanese patients FREE
Taisei Mushiroda, Yozo Ohnishi, Susumu Saito, Atsushi Takahashi, Yuka Kikuchi, Shigeru Saito, Hideki Shimomura, Yasuhiko Wanibuchi, Takao Suzuki, Naoyuki Kamatani and Yusuke Nakamura
J. Hum. Genet. 51: 249–253; doi:10.1007/s10038-005-0354-5 (2006)
medical genetics
Recent progress in genetics of Marfan syndrome and Marfan-associated disorders FREE
Takeshi Mizuguchi and Naomichi Matsumoto
J. Hum. Genet. 52: 1–12; doi:10.1007/s10038-006-0078-1 (2007)
genetics of multifactorial disease
Association analysis of genetic variants in IL23R , ATG16L1 and 5p13.1 loci with Crohn's disease in Japanese patients FREE
Keiko Yamazaki, Yoshihiro Onouchi, Masakazu Takazoe, Michiaki Kubo, Yusuke Nakamura and Akira Hata
J. Hum. Genet. 52: 575–583; doi:10.1007/s10038-007-0156-z (2007)
statistical genetics
Trends in meta-analysis of genetic association studies FREE
Elias Zintzaras and Joseph Lau
J. Hum. Genet. 53: 1–9; doi:10.1007/s10038-007-0223-5 (2008)
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