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

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

Xiaojie Yin
Qiyu Dong
Ya Wang
Article10 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
Homozygous variant in DRC3 (LRRC48) gene causes asthenozoospermia and male infertility

Jiao Qin
Jinyu Wang
Fuping Li
Article20 May 2024

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August 2024: Volume 69, Issue 8
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

INTS11-related neurodevelopmental disorder: a case report and literature review

Lihua Jiang
Yilong Wang
Zhefeng Yuan
Brief Communication19 Jul 2024
Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-

Kenta Orimo
Jun Mitsui
Shoji Tsuji
ArticleOpen Access18 Jul 2024
Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II

Zheng Wang
Mitsuhiro Kometani
Shiro Ikegawa
Article16 Jul 2024
Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts

Mio Shibata
Aika Terada
Ryo Yamada
Article16 Jul 2024
Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein

Boudour Khabou
Umar Bin Mohamad Sahari
Chahnez Charfi Triki
Article11 Jul 2024
Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes

Pierre Bougnères
Sophie Le Fur
Alain-Jacques Valleron
Article10 Jul 2024
Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study

Jim Jinn-Chyuan Sheu
Wei-Yong Lin
Fuu-Jen Tsai
Article09 Jul 2024
A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis

Shota Yoneno
Kaoru Yamamoto
Hirofumi Komaki
Brief Communication01 Jul 2024
Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study

Yinan Wang
Yiming Jia
Zhengbao Zhu
Article01 Jul 2024

Welcome to the Journal of Human Genetics

Current issue

Mediation role of DNA methylation in association between handgrip strength and cognitive function in monozygotic twins

Prevalence of FSH-R Asn680Ser and Ala307Thr receptor polymorphism and their correlation with ART outcomes among infertile Indian-Asian women-a prospective cohort study

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

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

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

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

Announcements

Check out the latest issue!

Genetics of neurological and psychiatric disorders

Explore Special Feature Review Collections

Browse articles

INTS11-related neurodevelopmental disorder: a case report and literature review

Association study of GBA1 variants with MSA based on comprehensive sequence analysis -Pitfalls in short-read sequence analysis depending on the human reference genome-

Heterozygous mutations in the straitjacket region of the latency-associated peptide domain of TGFB2 cause Camurati–Engelmann disease type II

Identification of epistatic SNP combinations in rheumatoid arthritis using LAMPLINK and Japanese cohorts

Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein

Genomic variants associated with age at diagnosis of childhood-onset type 1 diabetes

Ethnic-specific genetic susceptibility loci for endometriosis in Taiwanese-Han population: a genome-wide association study

A novel heterozygous TMEM63A variant in a familial case with early onset nystagmus, severe hypomyelination, and a favorable adult prognosis

Association of Crohn’s disease and ulcerative colitis with the risk of neurological diseases: a large-scale Mendelian randomization study

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Genetic origins of the Ainu inferred from combined DNA analyses of maternal and paternal lineages

Prefecture-level population structure of the Japanese based on SNP genotypes of 11,069 individuals

Genetic variations on the Y chromosome in the Japanese population and implications for modern human Y chromosome lineage

Eight novel mutations of the androgen receptor gene in patients with androgen insensitivity syndrome

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