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 <![CDATA[Correction: The frequency and pathogenicity of BRCA1 and BRCA2 variants in the general Japanese population]]> https://www.nature.com/articles/s10038-024-01241-w Journal of Human Genetics, Published online: 14 March 2024; doi:10.1038/s10038-024-01241-w

Correction: 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
<![CDATA[Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies]]> https://www.nature.com/articles/s10038-024-01242-9 Journal of Human Genetics, Published online: 11 March 2024; doi:10.1038/s10038-024-01242-9

Expanding 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
<![CDATA[Correction: The c.1617del variant of <i>TMEM260</i> 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/s10038-024-01238-5

Correction: 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
<![CDATA[New insights into the clinical and molecular spectrum of the <i>MADD</i>-related neurodevelopmental disorder]]> https://www.nature.com/articles/s10038-024-01236-7 Journal of Human Genetics, Published online: 08 March 2024; doi:10.1038/s10038-024-01236-7

New 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
<![CDATA[A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases]]> https://www.nature.com/articles/s10038-024-01237-6 Journal of Human Genetics, Published online: 08 March 2024; doi:10.1038/s10038-024-01237-6

A 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
<![CDATA[Combined exome and whole transcriptome sequencing identifies a de novo intronic <i>SRCAP</i> variant causing DEHMBA syndrome with severe sleep disorder]]> https://www.nature.com/articles/s10038-024-01240-x Journal of Human Genetics, Published online: 07 March 2024; doi:10.1038/s10038-024-01240-x

Combined exome and whole transcriptome sequencing identifies a de novo intronic SRCAP variant causing DEHMBA syndrome with severe sleep disorder]]>
SRCAP variant causing DEHMBA syndrome with severe sleep disorder]]> Silvia MorlinoLorenzo VaccaroMaria Pia LeoneGrazia NardellaLuigi BiscegliaRocco Pio OrtoreGiannandrea VerziccoLazzaro CassanoMarco CastoriDavide CacchiarelliLucia Micale doi:10.1038/s10038-024-01240-x Journal of Human Genetics, Published online: 2024-03-07; | doi:10.1038/s10038-024-01240-x 2024-03-07 Journal of Human Genetics 10.1038/s10038-024-01240-x https://www.nature.com/articles/s10038-024-01240-x
<![CDATA[Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk]]> https://www.nature.com/articles/s10038-024-01235-8 Journal of Human Genetics, Published online: 07 March 2024; doi:10.1038/s10038-024-01235-8

Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk]]>
David Curtis doi:10.1038/s10038-024-01235-8 Journal of Human Genetics, Published online: 2024-03-07; | doi:10.1038/s10038-024-01235-8 2024-03-07 Journal of Human Genetics 10.1038/s10038-024-01235-8 https://www.nature.com/articles/s10038-024-01235-8
<![CDATA[Correction: Genetic association and functional validation of <i>ZFP36L2</i> in non-syndromic orofacial cleft subtypes]]> https://www.nature.com/articles/s10038-024-01239-4 Journal of Human Genetics, Published online: 05 March 2024; doi:10.1038/s10038-024-01239-4

Correction: Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes]]>
ZFP36L2 in non-syndromic orofacial cleft subtypes]]> Jialin SunMujia LiHuaqin SunZiyuan LinBing ShiZhonglin Jia doi:10.1038/s10038-024-01239-4 Journal of Human Genetics, Published online: 2024-03-05; | doi:10.1038/s10038-024-01239-4 2024-03-05 Journal of Human Genetics 10.1038/s10038-024-01239-4 https://www.nature.com/articles/s10038-024-01239-4