Journal of Human Genetics
<p>The Journal of Human Genetics is a leading international journal, publishing articles on human genetics, including medical genetics and human genome analysis, gene cloning and mapping, linkage analysis, mutational analysis, evolution, cancer genetics, and gene therapy, as well as genetic and functional analysis of animal models of disease or behavior.
<ul>
<li>Associated with the Japan Society of Human Genetics.</li>
<li>Also presents clinical or cytogenetic case reports, as well as reports of genetic polymorphism of biologically important genes, novel mutations found in patients with hereditary diseases or in cancer cells, and population genetics.</li>
<li>Article Types are Original Articles, Brief Communications, Review Articles, Correspondences, Editorials, and Comments</li>
</ul>
</p>
http://feeds.nature.com/jhg/rss/current
Nature Publishing Group
en
© 2024 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
Journal of Human Genetics
© 2024 Macmillan Publishers Limited, part of Springer Nature. All rights reserved.
permissions@nature.com
Journal of Human Genetics
https://www.nature.com/uploads/product/jhg/rss.gif
http://feeds.nature.com/jhg/rss/current
-
TMEM260, in the Japanese population]]>
https://www.nature.com/articles/s10038-024-01245-6
Journal of Human Genetics, Published online: 29 March 2024; doi:10.1038/s10038-024-01245-6Correction: Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population]]>
TMEM260, in the Japanese population]]>
Hisao YaoitaEiichiro KawaiJun TakayamaShinya IwasawaNaoya SaijoMasayuki AbikoKouta SuzukiMasato KimuraAkira OzawaGen TamiyaShigeo KureAtsuo Kikuchi
doi:10.1038/s10038-024-01245-6
Journal of Human Genetics, Published online: 2024-03-29; | doi:10.1038/s10038-024-01245-6
2024-03-29
Journal of Human Genetics
10.1038/s10038-024-01245-6
https://www.nature.com/articles/s10038-024-01245-6
-
TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study]]>
https://www.nature.com/articles/s10038-024-01243-8
Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s10038-024-01243-8Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study]]>
TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study]]>
Yuying WuWeiling ChenYang ZhaoMinqi GuYajuan GaoYamin KeLongkang WangMengmeng WangWenkai ZhangYaobing ChenWeifeng HuoXueru FuXi LiDongdong ZhangPei QinFulan HuYu LiuXizhuo SunMing ZhangDongsheng Hu
doi:10.1038/s10038-024-01243-8
Journal of Human Genetics, Published online: 2024-03-25; | doi:10.1038/s10038-024-01243-8
2024-03-25
Journal of Human Genetics
10.1038/s10038-024-01243-8
https://www.nature.com/articles/s10038-024-01243-8
-
https://www.nature.com/articles/s10038-024-01232-x
Journal of Human Genetics, Published online: 25 March 2024; doi:10.1038/s10038-024-01232-xA mediation analysis framework based on variance component to remove genetic confounding effect]]>
Zihan DongHongyu ZhaoAndrew T. DeWan
doi:10.1038/s10038-024-01232-x
Journal of Human Genetics, Published online: 2024-03-25; | doi:10.1038/s10038-024-01232-x
2024-03-25
Journal of Human Genetics
10.1038/s10038-024-01232-x
https://www.nature.com/articles/s10038-024-01232-x
-
https://www.nature.com/articles/s10038-024-01241-w
Journal of Human Genetics, Published online: 14 March 2024; doi:10.1038/s10038-024-01241-wCorrection: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population]]>
Masashi IdogawaTasuku MariyaYumi TanakaTsuyoshi SaitoHiroshi NakaseTakashi TokinoAkihiro Sakurai
doi:10.1038/s10038-024-01241-w
Journal of Human Genetics, Published online: 2024-03-14; | doi:10.1038/s10038-024-01241-w
2024-03-14
Journal of Human Genetics
10.1038/s10038-024-01241-w
https://www.nature.com/articles/s10038-024-01241-w
-
https://www.nature.com/articles/s10038-024-01242-9
Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s10038-024-01242-9Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies]]>
Marwa KharratChahnez TrikiAbir ben isaaWafa BouchaalaOlfa AlilaJihen ChouchenYosra GhouliyaFatma KamounAbdelaziz TliliFaiza Fakhfakh
doi:10.1038/s10038-024-01242-9
Journal of Human Genetics, Published online: 2024-03-11; | doi:10.1038/s10038-024-01242-9
2024-03-11
Journal of Human Genetics
10.1038/s10038-024-01242-9
https://www.nature.com/articles/s10038-024-01242-9
-
TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease]]>
https://www.nature.com/articles/s10038-024-01238-5
Journal of Human Genetics, Published online: 08 March 2024; doi:10.1038/s10038-024-01238-5Correction: The c.1617del variant of TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease]]>
TMEM260 is identified as the most frequent single gene determinant for Japanese patients with a specific type of congenital heart disease]]>
Tadashi InoueRyuta TakaseKeiko UchidaKazuki KodoKenji SudaYoriko WatanabeKoh-Ichiro YoshiuraMasaya KunimatsuReina IshizakiKenko AzumaKei InaiJun MuneuchiYoshiyuki FurutaniHiroyuki AkagawaHiroyuki Yamagishi
doi:10.1038/s10038-024-01238-5
Journal of Human Genetics, Published online: 2024-03-08; | doi:10.1038/s10038-024-01238-5
2024-03-08
Journal of Human Genetics
10.1038/s10038-024-01238-5
https://www.nature.com/articles/s10038-024-01238-5
-
MADD-related neurodevelopmental disorder]]>
https://www.nature.com/articles/s10038-024-01236-7
Journal of Human Genetics, Published online: 08 March 2024; doi:10.1038/s10038-024-01236-7New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder]]>
MADD-related neurodevelopmental disorder]]>
Ghada M. H. Abdel-SalamMohamed S. Abdel-Hamid
doi:10.1038/s10038-024-01236-7
Journal of Human Genetics, Published online: 2024-03-08; | doi:10.1038/s10038-024-01236-7
2024-03-08
Journal of Human Genetics
10.1038/s10038-024-01236-7
https://www.nature.com/articles/s10038-024-01236-7
-
https://www.nature.com/articles/s10038-024-01237-6
Journal of Human Genetics, Published online: 08 March 2024; doi:10.1038/s10038-024-01237-6A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases]]>
Jessica ZuccoFederica BaldanLorenzo AllegriElisa BregantNadia PassonAlessandra FranzoniAngela Valentina D’EliaFlavio FaletraGiuseppe DamanteCatia Mio
doi:10.1038/s10038-024-01237-6
Journal of Human Genetics, Published online: 2024-03-08; | doi:10.1038/s10038-024-01237-6
2024-03-08
Journal of Human Genetics
10.1038/s10038-024-01237-6
https://www.nature.com/articles/s10038-024-01237-6