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Journal of Human Genetics|March 3, 2017
ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndromeSatoko Miyatake, Nobuhiko Okamoto, Zornitza Stark, et al.Journal of Human Genetics|April 7, 2017
An adaptive strategy for association analysis of common or rare variants using entropy theoryYu-Mei Li, Chao Xu, Yang Xiang, et al.Journal of Human Genetics|February 3, 2017
A novel mutation in the proteolytic domain of LONP1 causes atypical CODAS syndromeTakehiko Inui, Mai Anzai, Yusuke Takezawa, et al.Journal of Human Genetics|March 15, 2019
Investigating the role of genetic counseling in neuromuscular disease considering life eventsYuka Shibata, Ichiro Yabe, Masaaki Matsushima, et al.Journal of Human Genetics|March 27, 2019
Genome-wide association study of blood lipids in Indians confirms universality of established variantsKhushdeep Bandesh, Gauri Prasad, Anil K Giri, et al.Journal of Human Genetics|November 6, 2018
Recent advances in understanding beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiencyToshiyuki Fukao, Hideo Sasai, Yuka Aoyama, et al.Journal of Human Genetics|April 21, 2017
Logistic Bayesian LASSO for genetic association analysis of data from complex sampling designsYuan Zhang, Jonathan N Hofmann, Mark P Purdue, et al.Journal of Human Genetics|October 20, 2018
Locus and allelic heterogeneity in five families with hereditary spastic paraplegiaMalavika Hebbar, Anju Shukla, Sheela Nampoothiri, et al.Journal of Human Genetics|April 5, 2019
Genetic distribution analyses and population background explorations of Gansu Yugur and Guizhou Miao groups via InDel markersChun-Hua Yang, Xiao-Ye Jin, Yu-Xin Guo, et al.Journal of Human Genetics|July 18, 2019
Entire FGF12 duplication by complex chromosomal rearrangements associated with West syndromeYoichiro Oda, Yuri Uchiyama, Ai Motomura, et al.Pageof 351