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Journal of Human Genetics|February 26, 2016
Adults with germline CBL mutation complicated with juvenile myelomonocytic leukemia at infancyMichiko Muraoka, Chiho Okuma, Kiichiro Kanamitsu, et al.Journal of Human Genetics|February 26, 2016
Human genetic variation database, a reference database of genetic variations in the Japanese populationKoichiro Higasa, Noriko Miyake, Jun Yoshimura, et al.Journal of Human Genetics|February 26, 2016
Genetic diagnosis of Duchenne/Becker muscular dystrophy using next-generation sequencing: validation analysis of DMD mutationsMariko Okubo, Narihiro Minami, Kanako Goto, et al.Journal of Human Genetics|March 18, 2016
Fetal cell-free DNA fraction in maternal plasma is affected by fetal trisomyNobuhiro Suzumori, Takeshi Ebara, Takahiro Yamada, et al.Journal of Human Genetics|December 19, 2014
A powerful association test for qualitative traits incorporating imprinting effects using general pedigree dataJi-Yuan Zhou, Hai-Qiang He, Xiao-Ping You, et al.Journal of Human Genetics|December 19, 2014
PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructureMichel Belyk, Shelly Jo Kraft, Steven Brown, et al.Journal of Human Genetics|July 31, 2015
Genetics of autoimmune diseases: insights from population geneticsPaula S Ramos, Andrew M Shedlock, Carl D LangefeldJournal of Human Genetics|November 6, 2015
Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descentIrene Paradisi, Vassiliki Ikonomu, Sergio AriasJournal of Human Genetics|October 9, 2015
Recent advances in RASopathiesYoko Aoki, Tetsuya Niihori, Shin-ichi Inoue, et al.Pageof 351