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Journal of Human Genetics|August 28, 2015
The impact of next-generation sequencing technologies on HLA researchKazuyoshi Hosomichi, Takashi Shiina, Atsushi Tajima, et al.Journal of Human Genetics|August 28, 2015
Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetranceBeom Hee Lee, Christos Kasparis, Brenden Chen, et al.Journal of Human Genetics|August 7, 2015
Association of common variants in H2AFZ gene with schizophrenia and cognitive function in patients with schizophreniaMing Chang, Linyan Sun, Xinmei Liu, et al.Journal of Human Genetics|September 19, 2014
Resolving the genetic heterogeneity of prelingual hearing loss within one family: Performance comparison and application of two targeted next generation sequencing approachesYu Lu, Xueya Zhou, Zhanguo Jin, et al.Journal of Human Genetics|August 8, 2014
Exome sequencing identifies a de novo mutation in HDAC8 associated with Cornelia de Lange syndromeLei Feng, Daizhan Zhou, Zhou Zhang, et al.Journal of Human Genetics|August 8, 2014
Alterations to DNA methylation and expression of CXCL14 are associated with suboptimal birth outcomesClara Y Cheong, Keefe Chng, Mei Kee Lim, et al.Journal of Human Genetics|November 1, 2013
Novel mutation in AAA domain of BCS1L causing Bjornstad syndromeSaima Siddiqi, Saadat Siddiq, Atika Mansoor, et al.Journal of Human Genetics|December 27, 2013
Concurrent MCL1 and JUN amplification in pseudomyxoma peritonei: a comprehensive genetic profiling and survival analysisTerence T Sio, Aaron S Mansfield, Travis E Grotz, et al.Journal of Human Genetics|March 25, 2016
IntSplice: prediction of the splicing consequences of intronic single-nucleotide variations in the human genomeAkihide Shibata, Tatsuya Okuno, Mohammad Alinoor Rahman, et al.Journal of Human Genetics|March 25, 2016
Deletion of exons 3-9 encompassing a mutational hot spot in the DMD gene presents an asymptomatic phenotype, indicating a target region for multiexon skipping therapyAkinori Nakamura, Noboru Fueki, Naoko Shiba, et al.Pageof 353