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

Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients

Paniz Farshadyeganeh
Takahiro Yamada
Kinji Ohno
ArticleOpen Access29 Feb 2024
Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis

Yun-Lu Lin
Tao Yao
Jia-Feng Lin
Article01 Mar 2024
Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk

David Curtis
ArticleOpen Access07 Mar 2024
New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder

Ghada M. H. Abdel-Salam
Mohamed S. Abdel-Hamid
ArticleOpen Access08 Mar 2024
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Jessica Zucco
Federica Baldan
Catia Mio
ArticleOpen Access08 Mar 2024
Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

Emma Matthews
Ella F. Whittle
Christopher J. Carroll
Brief CommunicationOpen Access19 Feb 2024

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Announcements

Free Access Articles

A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNAGln causes developmental delay

Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility
Check out the latest issue!

June 2024: Volume 69, Issue 6
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

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
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility

Jiao Qin
Jinyu Wang
Fuping Li
Article20 May 2024
FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals

Xin Pan
Li Liu
Bo Tan
Article13 May 2024
Fundamentals for predicting transcriptional regulations from DNA sequence patterns

Masaru Koido
Kohei Tomizuka
Chikashi Terao
Review ArticleOpen Access10 May 2024
A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNA^Gln causes developmental delay

Xiaojie Yin
Qiyu Dong
Ya Wang
Article10 May 2024
Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts

Nicolás Garzón Rodríguez
Ignacio Briceño-Balcázar
Maria Fernanda Quiroz-Padilla
ArticleOpen Access07 May 2024
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

Welcome to the Journal of Human Genetics

Current issue

Dyssegmental dysplasia Rolland–Desbuquois type is caused by pathogenic variants in HSPG2 - a founder haplotype shared in five patients

Potential drug targets for gastroesophageal reflux disease and Barrett’s esophagus identified through Mendelian randomization analysis

Weighted burden analysis of rare coding variants in 470,000 exome-sequenced UK Biobank participants characterises effects on hyperlipidaemia risk

New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder

A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases

Leigh syndrome with developmental regression and ataxia due to a novel splicing variant in the PMPCB gene

Announcements

Free Access Articles

Check out the latest issue!

Cancer Genomics

Explore Special Feature Review Collections

Browse articles

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

Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility

FBXO11 variants are associated with intellectual disability and variable clinical manifestation in Chinese affected individuals

Fundamentals for predicting transcriptional regulations from DNA sequence patterns

A novel pathogenic mitochondrial DNA variant m.4344T>C in tRNA^Gln causes developmental delay

Exploring the relationship between admixture and genetic susceptibility to attention deficit hyperactivity disorder in two Latin American cohorts

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

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The history of human populations in the Japanese Archipelago inferred from genome-wide SNP data with a special reference to the Ainu and the Ryukyuan populations

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

Tracing the genomic ancestry of Peruvians reveals a major legacy of pre-Columbian ancestors

Molecular genealogy of Tusi Lu’s family reveals their paternal relationship with Jochi, Genghis Khan’s eldest son

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