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

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
Clinical and molecular characteristics of Korean patients with Kabuki syndrome

Ji-Hee Yoon
Soojin Hwang
Beom Hee Lee
Article01 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
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia

Ze-Hong Zheng
Chun-Yan Cao
Ling Fang
Article12 Jun 2024
Genotypic and phenotypic characteristics of sodium channel—associated epilepsy in Chinese population

Rui Dong
Ruifeng Jin
Zhongtao Gai
Article17 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

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Announcements

Free Access Articles

An application supporting diagnosis for rare genetic diseases – UR-DBMS and Syndrome Finder –
Exploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield
The genetic architecture of age at menarche and its causal effects on other traits

…and more
Check out the latest issue!

August 2024: Volume 69, Issue 9
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

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history

Huafang Jiang
Chaolong Xu
Fang Fang
Article03 Sept 2024
Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets

Paravee Own-eium
Donniphat Dejsuphong
Jakris Eu-ahsunthornwattana
Article28 Aug 2024
Artificial intelligence in medical genomics

Yoichiro Kamatani
Tadashi Kaname
Editorial27 Aug 2024
Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study

Yoichi Sutoh
Tsuyoshi Hachiya
Atsushi Shimizu
ArticleOpen Access22 Aug 2024
Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants

Tomoya Kubota
Miho Nagata
Masanori P. Takahashi
ArticleOpen Access21 Aug 2024
Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model

Yoshiro Nagao
Article20 Aug 2024
A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family

Qi Fang
Lanxi Ran
Binbin Wang
Brief Communication19 Aug 2024
A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea

Ryotaro Hashizume
Yifei Xu
Kazuhiko Takeuchi
Article16 Aug 2024
Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases

Jiro Ezaki
Yukari Takahashi
Kenjiro Kosaki
Perspective15 Aug 2024

Welcome to the Journal of Human Genetics

Current issue

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

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

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

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

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

Announcements

Free Access Articles

Check out the latest issue!

Genetics of neurological and psychiatric disorders

Explore Special Feature Review Collections

Browse articles

Phenotypic spectrum of iron-sulfur cluster assembly gene IBA57 mutations: c.286 T > C identified as a hotspot mutation in Chinese patients with a stable natural history

Investigating common mutations in ATP7B gene and the prevalence of Wilson’s disease in the Thai population using population-based genome-wide datasets

Artificial intelligence in medical genomics

Healthy lifestyle practice correlates with decreased obesity prevalence in individuals with high polygenic risk: TMM CommCohort study

Hydrops fetalis due to loss of function of hNav1.4 channel via compound heterozygous variants

Contribution of rare variants to heritability of a disease is much greater than conventionally estimated: modification of allele distribution model

A novel homozygous nonsense variant of STX2 underlies non-obstructive azoospermia in a consanguineous Chinese family

A 3000-year-old founder variant in the DRC1 gene causes primary ciliary dyskinesia in Japan and Korea

Japanese Public Health Insurance System’s new genomic strategic action to shorten the “diagnostic odyssey” for patients with rare and intractable diseases

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

A case of a parthenogenetic 46,XX/46,XY chimera presenting ambiguous genitalia

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

Newborn screening of mucopolysaccharidoses: past, present, and future

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