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Welcome to the Journal of Human Genetics

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

Current issue

The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests

Mizuki Yamaguchi
Shintaro Akabane
Takao Hinoi
ArticleOpen Access08 May 2025
Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients

Sara Alvaro
Daniel Castillo
Loreto Martorell
Article08 May 2025
Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective

Xiaojiao Wu
Jiancheng Jiao
Yanyan Cao
Article12 May 2025
ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing

Eduardo Perrone
Luiza Virmond
Tatiana Ferreira de Almeida
Article19 May 2025
The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study

Megumi Matsumoto
Hiroki Den
Kiyonori Miura
ArticleOpen Access21 May 2025
Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans

Shuai Xu
Chenwang Zhang
Yuxiang Zhang
Article23 May 2025

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Free Access Articles

Approaches to diagnostic screening for congenital disorders of glycosylation and its prevalence in Japan

A novel USP27X missense variant identified in an individual with intellectual disability

Molecular genetics of dystrophinopathy

Molecular genetics of myotonic dystrophy and the evolution of therapeutic approaches
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Check out the latest issue!

August 2025: Volume 70, Issue 8
Artificial intelligence in medical genomics

Special Issue Editors: Yoichiro Kamatani and Tadashi Kaname
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

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When ganglioside pathways go awry: congenital disorders and experimental insights

Kei-ichiro Inamori
Jin-ichi Inokuchi
Review Article31 Jul 2025
Genetics of myositis – distinct backgrounds of subtypes

Akinori Uruha
Review Article30 Jul 2025
NGLY1 deficiency - clinical features and therapeutic strategy

Haruhiko Fujihria
Hiroto Hirayama
Tadashi Suzuki
Review Article29 Jul 2025
Genome-wide analysis of 3′ untranslated region alternative polyadenylation quantitative trait loci identified a potential novel susceptibility locus for lung cancer in cross-ancestry populations

Yi Wang
Yuancheng Li
Jingyi Fan
Article29 Jul 2025
Broadening the mutational spectrum of ASAH1, as a susceptibility gene for keloids

Sepideh Hamzehlou
Chao Xing
Donald A. Glass II
Brief Communication25 Jul 2025
Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss

Lina Xiang
Anqi Deng
Xiaoqiang Cai
Article24 Jul 2025
Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review

Wongsathorn Eiumtrakul
Thipwimol Tim-Aroon
Parith Wongkittichote
Article23 Jul 2025
Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction

Kohta Nakamura
Yoshihito Kishita
Yasushi Okazaki
Brief Communication22 Jul 2025
Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle

Michio Inoue
Review Article22 Jul 2025

Welcome to the Journal of Human Genetics

Current issue

The usefulness of comprehensive genome profiling test in screening of Lynch syndrome independent of the conventional clinical screening or microsatellite instability tests

Refining the detection of complex rearrangements in 15q15.3 region involving the STRC gene in hereditary hearing loss patients

Reclassification of variants of uncertain significance in neonatal genetic diseases: implications from a clinician’s perspective

ACMG secondary findings in the Brazilian rare genomes project: insights from 5402 genome sequencing

The impact of public insurance on RRSO for HBOC in Japan: a nationwide data study

Bi-allelic KCTD19 variants associated with meiotic arrest and non-obstructive azoospermia in humans

Announcements

Free Access Articles

Check out the latest issue!

Artificial intelligence in medical genomics

Explore Special Feature Review Collections

Browse articles

When ganglioside pathways go awry: congenital disorders and experimental insights

Genetics of myositis – distinct backgrounds of subtypes

NGLY1 deficiency - clinical features and therapeutic strategy

Genome-wide analysis of 3′ untranslated region alternative polyadenylation quantitative trait loci identified a potential novel susceptibility locus for lung cancer in cross-ancestry populations

Broadening the mutational spectrum of ASAH1, as a susceptibility gene for keloids

Diagnostic yield of trio exome sequencing as a first-tier test for identifying genetic causes of pregnancy loss

Expanding the clinical and molecular spectrum of TBC1D32-related ciliopathy: case reports and literature Review

Identification of a pathogenic RNU4-2 variant in patients with mitochondrial disease: Broadening the spectrum of non-coding RNA gene variants in mitochondrial dysfunction

Molecular genetics of J-domain protein-related chaperonopathies in skeletal muscle

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

Interpretation of omics data analyses

Genetics of autism spectrum disorders and future direction

Genetic history of some western Mediterranean human isolates through mtDNA HVR1 polymorphisms

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