Journal of Human Genetics

Welcome to the Journal of Human Genetics

An international journal publishing articles on human genetics, including medical genetics and human genome analysis

Current issue

An update and frequency distribution of Y chromosome haplogroups in modern Japanese males

Makoto Inoue
Youichi Sato
Article21 Dec 2023
Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population

Li Shan Chen
Cheng Wei Yu
Yi Ping Li
Article22 Dec 2023
C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations

Moeko Nakashima
Tomoko Shiroshima
Kazuki Yamazawa
Article10 Jan 2024
A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene

Bing Wen
Runqi Tang
Chuanzhu Yan
Article17 Jan 2024
Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model

Wulan Apridita Sebastian
Masanori Inoue
Kenji Ihara
ArticleOpen Access05 Feb 2024
Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes

Jialin Sun
Mujia Li
Zhonglin Jia
Article06 Feb 2024

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Free Access Articles

A mediation analysis framework based on variance component to remove genetic confounding effect

Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins
Check out the latest issue!

April 2024: Volume 69, Issue 3-4
Cancer Genomics

Special Issue Editors: Johji Inazawa, Yoshio Miki, and Yusuke Nakamura
Explore Special Feature Review Collections

Find previous Special Features collections of review articles here. Topics include: Future Perspective of Human Genomics Analysis, Long-read Sequencing in Human Genetics, Advances in Inborn Errors of Metabolism, Genome Editing, and more

Browse articles

Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins

Jin Liu
Weijing Wang
Dongfeng Zhang
Article23 Apr 2024
Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

Michal Levy
Eyal Elron
Idit Maya
ArticleOpen Access18 Apr 2024
Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

Yukiko Kuroda
Takuya Naruto
Kenji Kurosawa
Brief Communication11 Apr 2024
Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

Yohei Misumi
Taro Yamashita
Mitsuharu Ueda
Brief Communication08 Apr 2024
Heritability of complex traits in sub-populations experiencing bottlenecks and growth

Cameron S. Taylor
Daniel J. Lawson
ArticleOpen Access08 Apr 2024
Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review

Lin Wang
Shuji Mizumoto
Long Guo
Article02 Apr 2024
Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study

Yuying Wu
Weiling Chen
Dongsheng Hu
Article25 Mar 2024
A mediation analysis framework based on variance component to remove genetic confounding effect

Zihan Dong
Hongyu Zhao
Andrew T. DeWan
Article25 Mar 2024
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 Kharrat
Chahnez Triki
Faiza Fakhfakh
Article11 Mar 2024

Welcome to the Journal of Human Genetics

Current issue

An update and frequency distribution of Y chromosome haplogroups in modern Japanese males

Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population

C-terminal truncations in IQSEC2: implications for synaptic localization, guanine nucleotide exchange factor activity, and neurological manifestations

A comparative study on riboflavin responsive multiple acyl-CoA dehydrogenation deficiency due to variants in FLAD1 and ETFDH gene

Cardiac manifestations of human ACTA2 variants recapitulated in a zebrafish model

Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes

Announcements

Free Access Articles

Check out the latest issue!

Cancer Genomics

Explore Special Feature Review Collections

Browse articles

Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins

Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases

Role of TOE1 variants at the nuclear localization motif in pontocerebellar hypoplasia 7

Long-term course of a case with a novel homozygous kyphoscoliosis peptidase variant

Heritability of complex traits in sub-populations experiencing bottlenecks and growth

Identification of a novel LFNG variant in a Chinese fetus with spondylocostal dysostosis and a systematic review

Visit to visit transition in TXNIP gene methylation and the risk of type 2 diabetes mellitus: a nested case-control study

A mediation analysis framework based on variance component to remove genetic confounding effect

Expanding the genetic and phenotypic spectrum of TRAPPC9 and MID2-related neurodevelopmental disabilities: report of two novel mutations, 3D-modelling, and molecular docking studies

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The Indian origin of paternal haplogroup R1a1* substantiates the autochthonous origin of Brahmins and the caste system

Admixture and population structure in Mexican-Mestizos based on paternal lineages

Papuan mitochondrial genomes and the settlement of Sahul

Global distribution of Y-chromosome haplogroup C reveals the prehistoric migration routes of African exodus and early settlement in East Asia

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