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

CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer’s disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion

Yuya Asanomi
Tetsuaki Kimura
Kouichi Ozaki
ArticleOpen Access13 Feb 2024
Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Hisao Yaoita
Eiichiro Kawai
Atsuo Kikuchi
ArticleOpen Access13 Feb 2024
Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals

Francisco Javier Cotrina-Vinagre
María Elena Rodríguez-García
Francisco Martínez-Azorín
Article14 Feb 2024
Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review

Xiao-Man Zhang
Kai-Li Xu
Shi-Yue Mei
Article19 Feb 2024
Identifying the genetic associations among the psoriasis patients in eastern India

Shantanab Das
Aditi Chandra
Raghunath Chatterjee
Article27 Feb 2024
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

Tadashi Inoue
Ryuta Takase
Hiroyuki Yamagishi
ArticleOpen Access26 Feb 2024

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Announcements

Free Access Articles

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

Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study
Check out the latest issue!

May 2024: Volume 69, Issue 5
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

Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study

Reeta Mahey
Monika Rajput
Neerja Bhatla
Article25 Apr 2024
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

Welcome to the Journal of Human Genetics

Current issue

CRISPR/Cas9-mediated knock-in cells of the late-onset Alzheimer’s disease-risk variant, SHARPIN G186R, reveal reduced NF-κB pathway and accelerated Aβ secretion

Genetic etiology of truncus arteriosus excluding 22q11.2 deletion syndrome and identification of c.1617del, a prevalent variant in TMEM260, in the Japanese population

Expanding the genetic and phenotypic spectrum of congenital myasthenic syndrome: new homozygous VAMP1 splicing variants in 2 novel individuals

Heterozygous CAPZA2 mutations cause global developmental delay, hypotonia with epilepsy: a case report and the literature review

Identifying the genetic associations among the psoriasis patients in eastern India

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

Announcements

Free Access Articles

Check out the latest issue!

Cancer Genomics

Explore Special Feature Review Collections

Browse articles

Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study

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

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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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