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

Assessment of whole-exome sequencing results in neurogenetic diseases

Özgür Balasar
Müşerref Başdemirci
Article31 Jul 2023
Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development

Haobo Li
Zhu Zhang
Chen Wang
ArticleOpen Access03 Aug 2023
Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history

Xi Chen
Yuqian Wang
Jie Qiao
Article18 Aug 2023
Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets

Mia Yang Ang
Fumihiko Takeuchi
Norihiro Kato
ArticleOpen Access24 Aug 2023
Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISI_Matusda in the middle-aged T2D individuals

Min Shen
Liying Jiang
Kuanfeng Xu
Article31 Aug 2023
Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia

Rui Han
Manman Chu
Xiaoli Zhang
Article05 Sept 2023

Contents

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Announcements

Free Access Articles

Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders
Check out the latest issue!

December 2023: Volume 68, Issue 12
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

Journal of Human Genetics is a Transformative Journal; authors can publish using the traditional publishing route OR via immediate gold Open Access.

Our Open Access option complies with funder and institutional requirements.

Browse articles

A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities

Masamune Sakamoto
Kenji Kurosawa
Naomichi Matsumoto
Article30 Nov 2023
A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C

Maha S. Zaki
Sherif F. Abdel-Ghafar
Mohamed S. Abdel-Hamid
ArticleOpen Access29 Nov 2023
Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders

Yasuhiro Utsuno
Keisuke Hamada
Naomichi Matsumoto
Article27 Nov 2023
Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing

Regina Gamirova
Elena Shagimardanova
Atsushi Tajima
Article22 Nov 2023
Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1

Hiroaki Murakami
Yumi Enomoto
Kenji Kurosawa
Article10 Nov 2023
Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK

Benjamin H. L. Harris
Caitlin McCabe
Jonathan Krell
ArticleOpen Access01 Nov 2023
JHG Young Scientist Award 2023

Toshihiro Tanaka
Editorial31 Oct 2023
Integrated omics analyses clarifies ATRX copy number variant of uncertain significance

Aren E. Marshall
Yijing Liang
Kristin D. Kernohan
Brief Communication31 Oct 2023
Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers

Aya Yamazaki
Tomoko Kuroda
Toshiyuki Yamamoto
Article23 Oct 2023

Welcome to the Journal of Human Genetics

Current issue

Assessment of whole-exome sequencing results in neurogenetic diseases

Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development

Application of the PGT-M strategy using single sperm and/or affected embryos as probands for linkage analysis in males with hereditary tumor syndromes without family history

Deciphering the genetic landscape of obesity: a data-driven approach to identifying plausible causal genes and therapeutic targets

Interaction between the GCKR rs1260326 variant and serum HDL cholesterol contributes to HOMA-β and ISI_Matusda in the middle-aged T2D individuals

Compound heterozygous variants of THG1L result in autosomal recessive cerebellar ataxia

Announcements

Free Access Articles

Check out the latest issue!

Cancer Genomics

Explore Special Feature Review Collections

Browse articles

A heterozygous germline deletion within USP8 causes severe neurodevelopmental delay with multiorgan abnormalities

A missense variant in EXOSC8 causes exon skipping and expands the phenotypic spectrum of pontocerebellar hypoplasia type 1C

Novel missense variants cause intermediate phenotypes in the phenotypic spectrum of SLC5A6-related disorders

Identification of potential disease-associated variants in idiopathic generalized epilepsy using targeted sequencing

Nanopore long-read sequencing analysis reveals ZIC1 dysregulation caused by a de novo 3q inversion with a breakpoint located 7 kb downstream of ZIC1

Diversity of thought: public perceptions of genetic testing across ethnic groups in the UK

JHG Young Scientist Award 2023

Integrated omics analyses clarifies ATRX copy number variant of uncertain significance

Preimplantation genetic testing using comprehensive genomic copy number analysis is beneficial for balanced translocation carriers

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Mitochondrial DNA history of Sri Lankan ethnic people: their relations within the island and with the Indian subcontinental populations

Mixed origin of the current Tunisian population from the analysis of Alu and Alu/STR compound systems

Unique origin of Andaman Islanders: insight from autosomal loci

Proteome-wide mendelian randomization identifies causal plasma proteins in venous thromboembolism development

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