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Journal of Human Genetics|May 22, 2015
Clinical outcomes and the mutation spectrum of the OTC gene in patients with ornithine transcarbamylase deficiencyJin-Ho Choi, Beom Hee Lee, Ja Hye Kim, et al.Journal of Human Genetics|July 24, 2015
Distribution of HLA haplotypes across Japanese Archipelago: similarity, difference and admixtureHirofumi Nakaoka, Ituro InoueJournal of Human Genetics|July 22, 2016
Recent trends in microRNA research into breast cancer with particular focus on the associations between microRNAs and intrinsic subtypesSasagu Kurozumi, Yuri Yamaguchi, Masafumi Kurosumi, et al.Journal of Human Genetics|April 17, 2020
Long-read DNA sequencing fully characterized chromothripsis in a patient with Langer-Giedion syndrome and Cornelia de Lange syndrome-4Ming Lei, Desheng Liang, Yifeng Yang, et al.Journal of Human Genetics|April 12, 2020
Genome-wide meta-analysis identifies novel loci associated with age-related macular degenerationXikun Han, Puya Gharahkhani, Paul Mitchell, et al.Journal of Human Genetics|August 19, 2016
Clinical and genetic features of 13 Spanish patients with KCNQ2 mutationsMontesclaros Hortigüela, Ana Fernández-Marmiesse, Verónica Cantarín, et al.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.Pageof 351