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Journal of Human Genetics|January 15, 2016
A novel de novo POGZ mutation in a patient with intellectual disabilityBo Tan, Yongyi Zou, Yue Zhang, et al.Journal of Human Genetics|January 15, 2016
Genome-wide association study of serum lipids confirms previously reported associations as well as new associations of common SNPs within PCSK7 gene with triglycerideMakoto Kurano, Kazuhisa Tsukamoto, Shigeo Kamitsuji, et al.Journal of Human Genetics|January 15, 2016
Mosaic 13q14 deletions in peripheral leukocytes of non-hematologic cancer cases and healthy controlsMitchell J Machiela, Weiyin Zhou, Neil Caporaso, et al.Journal of Human Genetics|January 15, 2016
Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH geneAleksander Jamsheer, Anna Sowińska-Seidler, Ewelina M Olech, et al.Journal of Human Genetics|January 29, 2016
Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutationsFaravareh Khordadpoor-Deilamani, Mohammad Taghi Akbari, Morteza Karimipoor, et al.Journal of Human Genetics|February 19, 2016
Homozygous mutation in Atlastin GTPase 1 causes recessive hereditary spastic paraplegiaLena Willkomm, Raul Heredia, Katrin Hoffmann, et al.Journal of Human Genetics|January 22, 2016
A functional SNP in FLT1 increases risk of coronary artery disease in a Japanese populationAtsuko Konta, Kouichi Ozaki, Yasuhiko Sakata, et al.Journal of Human Genetics|January 22, 2016
Tibial hemimelia associated with GLI3 truncationSteven Deimling, Chris Sotiropoulos, Kimberly Lau, et al.Journal of Human Genetics|December 16, 2014
Deep sequencing of RYR3 gene identifies rare and common variants associated with increased carotid intima-media thickness (cIMT) in HIV-infected individualsDegui Zhi, Aditi Shendre, Rebecca Scherzer, et al.Journal of Human Genetics|January 9, 2015
Chromosome abnormalities diagnosed in utero: a Japanese study of 28 983 amniotic fluid specimens collected before 22 weeks gestationsMiyuki Nishiyama, Jim Yan, Junko Yotsumoto, et al.Pageof 353