Journal of Human Genetics
Overview
The Journal of Human Genetics is a peer-reviewed scientific journal that publishes original research articles, reviews, and case reports in the field of human genetics. It covers a wide range of topics including genetic disorders, population genetics, molecular genetics, and genetic epidemiology. The journal aims to advance our understanding of the genetic basis of human traits and diseases, and its implications for personalized medicine and public health.
Details
Details
Abbr.
J Hum Genet
Start
1998
End
Continuing
Frequency
Monthly, 2001-
p-ISSN
1434-5161
e-ISSN
1435-232X
Country
United Kingdom
Language
English
Specialty
Genetics
Metrics
Metrics
h-index / Ranks: 3550
92
SJR / Ranks: 3024
1148
CiteScore / Ranks: 2894
7.00
JIF / Ranks: 2766
3.5
Recent Articles
1.
Tse D, Chung B, Chu A
J Hum Genet
. 2025 Mar;
PMID: 40087376
Genetic counselling plays a crucial role in the genomic era, assisting in disease risk determination, diagnosis and management. The lack of an accredited local training program for genetic counselling in...
2.
Lin W, Xu L, Li G, Tortorella M
J Hum Genet
. 2025 Mar;
PMID: 40069498
The human skeleton is renewed and regenerated throughout life, by a cellular process known as bone remodeling. Stem cells are clono-genic cells that are capable of differentiation into multiple mature...
3.
Miyamoto Y, Tozawa T, Ichise E, Hasegawa T, Fujimoto T, Itoh K, et al.
J Hum Genet
. 2025 Mar;
PMID: 40057591
AKT3, a key component of the PI3K-AKT-MTOR pathway, is highly expressed in the brain, and its activating variants cause megalencephaly and cortical malformations. In this study, we functionally verified a...
4.
Furukawa G, Kawamura R, Inagaki H, Sakakibara Y, Asada Y, Hara T, et al.
J Hum Genet
. 2025 Feb;
PMID: 40011608
It is occasionally necessary to distinguish balanced reciprocal translocations from normal diploidy since balanced carriers can have reproductive problems or manifest other disease phenotypes. It is challenging to do this...
5.
Poquerusse J, Whitford W, Taylor J, Gregersen N, Love D, Tsang B, et al.
J Hum Genet
. 2025 Feb;
70(4):215-222.
PMID: 40011607
Autosomal dominant variants in transcription factor 20 (TCF20) can result in TCF20-associated neurodevelopmental disorder (TAND), a condition characterized by developmental delay and intellectual disability, autism, dysmorphisms, dystonia, and variable other...
6.
Kim D, Yoon J, Bae H, Hwang S, Seo G, Koh J, et al.
J Hum Genet
. 2025 Feb;
PMID: 40000719
The Verloes or Hale diagnostic criteria have been applied for diagnosing CHARGE syndrome in suspected patients. This study was conducted to evaluate the diagnostic rate of CHD7 according to these...
7.
Shah A, Khuba S, Kumar C S, Shanmukhaiah C, George M, Dhangar S, et al.
J Hum Genet
. 2025 Feb;
70(4):207-213.
PMID: 39939801
Cobalamin (Cbl) metabolism deficiencies are a heterogeneous group (CblA, CblB, CblC, CblD, CblE, CblF, CblG) of autosomal recessive disorders. CblF deficiency occurs due to mutations in LMBRD1 gene, causing variable...
8.
Shimizu N, Mashimo Y, Yokouchi H, Nishio Y, Sawai S, Ichikawa T, et al.
J Hum Genet
. 2025 Feb;
70(4):199-205.
PMID: 39939800
Mutations in fibrillin-1 (FBN1) cause various clinical conditions, such as Marfan syndrome (MFS). However, the genotype-phenotype relationships underlying MFS and other conditions relevant to FBN1 mutations have not been fully...
9.
Ren K, Pirmarzdashti N, Pakdel F, Zhu J, Liu W, Wang L, et al.
J Hum Genet
. 2025 Feb;
70(4):195-198.
PMID: 39901041
Craniotubular dysplasia, Ikegawa type (CTDI) is a rare autosomal recessive skeletal dysplasia characterized by hyperostosis of the calvaria and skull base, metadiaphyseal undermodeling of the long tubular bones, and mild...
10.
Li Q, Zhang B, Chen Q, Fu Y, Zuo X, Lu P, et al.
J Hum Genet
. 2025 Jan;
70(4):189-194.
PMID: 39875538
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital anomalies. However, known causal genes account for only approximately 6% of patients, indicating...