Human Genetics
Overview
Human Genetics is a reputable scientific journal that focuses on the study of genetic variation and its impact on human health and disease. It publishes cutting-edge research articles, reviews, and commentaries, covering a wide range of topics including genetic disorders, population genetics, molecular genetics, and genetic epidemiology. With its interdisciplinary approach, the journal serves as a valuable resource for researchers, clinicians, and geneticists interested in understanding the complexities of human genetics.
Details
Details
Metrics
Metrics
h-index / Ranks: 1374
152
SJR / Ranks: 1154
2049
CiteScore / Ranks: 1542
9.70
JIF / Ranks: 1433
5.3
Recent Articles
1.
Jain S, Trinidad M, Nguyen T, Jones K, Neto S, Ge F, et al.
Hum Genet
. 2025 Mar;
PMID: 40055237
Continued advances in variant effect prediction are necessary to demonstrate the ability of machine learning methods to accurately determine the clinical impact of variants of unknown significance (VUS). Towards this...
2.
Wang X, Zhang L, Chen H, Tian T, Wu L, Huang Y, et al.
Hum Genet
. 2025 Mar;
PMID: 40029375
Childhood asthma is a common chronic respiratory disorder influenced by various factors, and obstructive sleep apnea (OSA) has emerged as a significant comorbidity. This study sought to investigate the underlying...
3.
Aspromonte M, Del Conte A, Polli R, Baldo D, Benedicenti F, Bettella E, et al.
Hum Genet
. 2025 Feb;
PMID: 40019509
Neurodevelopmental disorders (NDDs) are common conditions including clinically diverse and genetically heterogeneous diseases, such as intellectual disability, autism spectrum disorders, and epilepsy. The intricate genetic underpinnings of NDDs pose a...
4.
Turina P, Petrosino M, Enriquez Sandoval C, Novak L, Pasquo A, Alexov E, et al.
Hum Genet
. 2025 Feb;
PMID: 39976676
New thermodynamic and functional studies have been recently conducted to evaluate the impact of amino acid substitutions on the Mitogen Activated Protein Kinases 1 and 3 (MAPK1/3). The Critical Assessment...
5.
Wang W, Dai J, Hu X, He W, Gu Y, Wan Z, et al.
Hum Genet
. 2025 Feb;
PMID: 39969580
This study aimed to find the most effective PGT-M strategy for Duchenne muscular dystrophy/Becker muscular dystrophy (DMD/BMD), and to reduce misdiagnosis caused by embryo recombination in DMD. A retrospective study...
6.
Chen Y, Lee K, Woo J, Kim D, Keum C, Babbi G, et al.
Hum Genet
. 2025 Feb;
PMID: 39934475
Critical evaluation of computational tools for predicting variant effects is important considering their increased use in disease diagnosis and driving molecular discoveries. In the sixth edition of the Critical Assessment...
7.
Serey-Gaut M, Balogoun R, Jonard L, Lina-Granade G, Touraine R, Willems M, et al.
Hum Genet
. 2025 Feb;
PMID: 39918572
KITLG pathogenic variants have been associated to three distinct clinical presentations with different combinations of hearing loss and/or pigmentation abnormalities. However, its involvement in isolated hearing loss has not been...
8.
Srinivasan A, Magner D, Kozlowski P, Philips A, Kajdasz A, Wojciechowski P, et al.
Hum Genet
. 2025 Feb;
PMID: 39903274
Myotonic dystrophy type 1 (DM1) and type 2 (DM2) are autosomal dominant neuromuscular disorders associated with expansions of microsatellites, respectively, in DMPK and CNBP. Their pathogenesis is linked to the...
9.
Joshi D, Pradhan S, Sajeed R, Srinivasan R, Rana S
Hum Genet
. 2025 Jan;
PMID: 39869148
Variants of uncertain significance (VUS) represent variants that lack sufficient evidence to be confidently associated with a disease, thus posing a challenge in the interpretation of genetic testing results. Here...
10.
Wang X, Pang W, Hu X, Shu T, Luo Y, Li J, et al.
Hum Genet
. 2025 Jan;
PMID: 39841246
The genetic relationship between migraine and stroke remains underexplored, particularly in the context of druggable targets. Previous studies have been limited by small sample sizes and a lack of focus...