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Journal of Human Genetics|August 19, 2016
Exome sequencing identifies POU4F3 as the causative gene for a large Chinese family with non-syndromic hearing lossXin Zhang Cai, Ying Li, Lu Xia, et al.Journal of Human Genetics|June 20, 2020
Biallelic mutations of CFAP74 may cause human primary ciliary dyskinesia and MMAF phenotypeYanwei Sha, Xiaoli Wei, Lu Ding, et al.Journal of Human Genetics|September 17, 2021
Biallelic null variants in ZNF142 cause global developmental delay with familial epilepsy and dysmorphic featuresShinichi Kameyama, Takeshi Mizuguchi, Hiromi Fukuda, et al.Journal of Human Genetics|October 20, 2019
Clinical significance of TP53 variants as possible secondary findings in tumor-only next-generation sequencingYoshihiro Yamamoto, Masashi Kanai, Tadayuki Kou, et al.Journal of Human Genetics|July 24, 2015
Elucidating the mechanisms of transcription regulation during heart development by next-generation sequencingKeisuke Nimura, Yasufumi KanedaJournal of Human Genetics|September 2, 2025
A novel MCMDC2 variant causes meiotic arrest and non-obstructive azoospermia in a consanguineous Chinese familyQi Fang, Lanxi Ran, Song Liu, et al.Journal of Human Genetics|May 29, 2015
Association studies of SEPS1 gene polymorphisms with Hashimoto's thyroiditis in Han ChineseMiao Li, Bailing Liu, Lu Li, et al.Journal of Human Genetics|August 11, 2021
Analyses of biomarker traits in diverse UK biobank participants identify associations missed by European-centric analysis strategiesQuan Sun, Misa Graff, Bryce Rowland, et al.Journal of Human Genetics|May 14, 2021
Modeling colorectal cancer evolutionAtsushi Niida, Koshi Mimori, Tatsuhiro Shibata, et al.Journal of Human Genetics|February 9, 2023
CFH-CFHR1 hybrid genes in two cases of atypical hemolytic uremic syndromeYuka Sugawara, Hideki Kato, Masao Nagasaki, et al.Pageof 353