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

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

Zihan Dong
Hongyu Zhao
Andrew T. DeWan
Article25 Mar 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
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
Heritability of complex traits in sub-populations experiencing bottlenecks and growth

Cameron S. Taylor
Daniel J. Lawson
ArticleOpen Access08 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Exploring inheritance, and clinical penetrance of distal Xq28 duplication syndrome: insights from 47 new unpublished cases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

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Free Access Articles

Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Clinical and molecular characteristics of Korean patients with Kabuki syndrome
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients
…and more
Check out the latest issue!

July 2024: Volume 69, Issue 7
Genetics of neurological and psychiatric disorders

Special Issue Editor: Tatsushi Toda
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

Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes

Kaname Kojima
Shu Tadaka
Kengo Kinoshita
Review ArticleOpen Access25 Jun 2024
A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

Kenichiro Sadamitsu
Kumiko Yanagi
Hiromi Hirata
Article20 Jun 2024
Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing

Vigneshwar Senthivel
Bani Jolly
Sridhar Sivasubbu
Article18 Jun 2024
Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population

Rui Dong
Ruifeng Jin
Zhongtao Gai
Article17 Jun 2024
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia

Ze-Hong Zheng
Chun-Yan Cao
Ling Fang
Article12 Jun 2024
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients

Li Zhang
Minna Shen
Wei Guo
Article06 Jun 2024
Genetic association mapping leveraging Gaussian processes

Natsuhiko Kumasaka
Review ArticleOpen Access04 Jun 2024
Clinical and molecular characteristics of Korean patients with Kabuki syndrome

Ji-Hee Yoon
Soojin Hwang
Beom Hee Lee
Article01 Jun 2024
Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation

Takuya Morikawa
Shiroh Miura
Hiroki Shibata
Article29 May 2024

Welcome to the Journal of Human Genetics

Current issue

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

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

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

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

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

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

Announcements

Free Access Articles

Check out the latest issue!

Genetics of neurological and psychiatric disorders

Explore Special Feature Review Collections

Browse articles

Two-stage strategy using denoising autoencoders for robust reference-free genotype imputation with missing input genotypes

A novel homozygous variant of the PIGK gene caused by paternal disomy in a patient with neurodevelopmental disorder, cerebellar atrophy, and seizures

Whole genome sequencing of families diagnosed with cardiac channelopathies reveals structural variants missed by whole exome sequencing

Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population

Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia

The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients

Genetic association mapping leveraging Gaussian processes

Clinical and molecular characteristics of Korean patients with Kabuki syndrome

Hexanucleotide repeat expansion in SCA36 reduces the expression of genes involved in ribosome biosynthesis and protein translation

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Papuan mitochondrial genomes and the settlement of Sahul

Genetic diversity of two Neolithic populations provides evidence of farming expansions in North China

Genetic characteristics and migration history of a bronze culture population in the West Liao-River valley revealed by ancient DNA

“Distribution of paternal lineages in Mestizo populations throughout Mexico: an in silico study based on Y-STR haplotypes”

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