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Journal of Human Genetics|January 25, 2018
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxiaPengfei Lin, Dong Zhang, Guangrun Xu, et al.Journal of Human Genetics|January 27, 2018
DNA methylation of TOMM40-APOE-APOC2 in Alzheimer's diseaseYvonne Shao, McKenzie Shaw, Kaitlin Todd, et al.Journal of Human Genetics|March 14, 2018
Molecular pathogenesis of interstitial cystitis based on microRNA expression signature: miR-320 family-regulated molecular pathways and targetsTakayuki Arai, Miki Fuse, Yusuke Goto, et al.Journal of Human Genetics|March 4, 2018
RNF213-related susceptibility of Japanese CADASIL patients to intracranial arterial stenosisWing Tung Esther Yeung, Ikuko Mizuta, Akiko Watanabe-Hosomi, et al.Journal of Human Genetics|February 17, 2018
Self-perceptions from people with Down syndrome in JapanMio Wakai, Rina Takahashi, Satomi Higashigawa, et al.Journal of Human Genetics|December 22, 2017
Focal facial dermal dysplasia type 4: identification of novel CYP26C1 mutations in unrelated patientsBeom Hee Lee, Fanny Morice-Picard, Franck Boralevi, et al.Journal of Human Genetics|February 15, 2018
A homozygous NOP14 variant is likely to cause recurrent pregnancy lossToshifumi Suzuki, Mahdiyeh Behnam, Firooze Ronasian, et al.Journal of Human Genetics|December 24, 2017
GAREM1 regulates the PR interval on electrocardiogramsHye Ok Kim, Ji Eun Lim, Myung Jun Kim, et al.Journal of Human Genetics|December 14, 2017
Characteristic dysmorphic features in congenital disorders of glycosylation type IIbYoon-Myung Kim, Go Hun Seo, Euiseok Jung, et al.Journal of Human Genetics|July 15, 2016
Block-based association tests for rare variants using Kullback-Leibler divergenceDegang Zhu, Yue-Qing Hu, Shili LinPageof 351