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Journal of Human Genetics|May 3, 2018
Novel NEXMIF pathogenic variant in a boy with severe autistic features, intellectual disability, and epilepsy, and his mildly affected motherNelle Lambert, Corinne Dauve, Emmanuelle Ranza, et al.Journal of Human Genetics|April 13, 2019
Genetic associations and expression of extra-short isoforms of disrupted-in-schizophrenia 1 in a neurocognitive subgroup of schizophreniaChih-Min Liu, Yu-Li Liu, Hai-Gwo Hwu, et al.Journal of Human Genetics|April 17, 2019
Translocation breakpoint disrupting the host SNHG14 gene but not coding genes or snoRNAs in typical Prader-Willi syndromeMing Lei, Satomi Mitsuhashi, Noriko Miyake, et al.Journal of Human Genetics|April 17, 2019
Mutation spectrum of α-Galactosidase gene in Japanese patients with Fabry diseaseMasahisa Kobayashi, Toya Ohashi, Eiko Kaneshiro, et al.Journal of Human Genetics|August 24, 2018
Admixture mapping and fine-mapping of type 2 diabetes susceptibility loci in African American womenJosé M Uribe-Salazar, Julie R Palmer, Stephen A Haddad, et al.Journal of Human Genetics|March 20, 2010
The pursuit of genome-wide association studies: where are we now?Chee Seng Ku, En Yun Loy, Yudi Pawitan, et al.Journal of Human Genetics|November 20, 2022
Genome-wide association study of the risk of chronic kidney disease and kidney-related traits in the Japanese population: J-Kidney-BiobankYuka Sugawara, Yosuke Hirakawa, Hajime Nagasu, et al.Journal of Human Genetics|January 31, 2023
Transcriptome-wide association analyses identify an association between ARL14EP and polycystic ovary syndromeSarah M Lyle, Samah Ahmed, Jason E Elliott, et al.Journal of Human Genetics|August 22, 2022
Association of rare PPARGC1A variants with Parkinson's disease riskLi-Zhi Li, Yu-Wen Zhao, Hong-Xu Pan, et al.Journal of Human Genetics|August 22, 2022
Integrated analysis of probability of type 2 diabetes mellitus with polymorphisms and methylation of SLC30A8 gene: a nested case-control studyFulan Hu, Yanyan Zhang, Pei Qin, et al.Pageof 351