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American Journal of Human Genetics

The American Journal of Human Genetics is a prestigious peer-reviewed journal that publishes cutting-edge research in the field of human genetics. It covers a wide range of topics including genetic diseases, population genetics, genomics, and molecular genetics. With its rigorous scientific standards, the journal serves as a valuable resource for researchers, clinicians, and geneticists worldwide, advancing our understanding of the genetic basis of human health and disease.
Details
Abbr. Am J Hum Genet
Publisher Cell Press
Start 1949
End Continuing
Frequency Monthly, 1986-
p-ISSN 0002-9297
e-ISSN 1537-6605
Country United States
Language English
Specialty Genetics
Metrics
h-index / Ranks: 144 330
SJR / Ranks: 310 4516
CiteScore / Ranks: 482 17.20
JIF / Ranks: 471 9.8
Recent Articles
1.
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results
Kerr S, Klaric L, Muckian M, Johnston K, Drake C, Halachev M, et al.
Am J Hum Genet . 2025 Mar; PMID: 40088892
The benefits of returning clinically actionable genetic results to participants in research cohorts are accruing, yet such a genome-first approach is challenging. Here, we describe the implementation of return of...
2.
De novo variants in CDKL1 and CDKL2 are associated with neurodevelopmental symptoms
Bereshneh A, Andrews J, Eberl D, Bademci G, Borja N, Bivona S, et al.
Am J Hum Genet . 2025 Mar; PMID: 40088891
The CDKL (cyclin-dependent kinase-like) family consists of five members in humans, CDKL1-5, that encode serine-threonine kinases. The only member that has been associated with a Mendelian disorder is CDKL5, and...
3.
Bi-allelic MED16 variants cause a MEDopathy with intellectual disability, motor delay, and craniofacial, cardiac, and limb malformations
Guillouet C, Agostini V, Baujat G, Cocciadiferro D, Pippucci T, Lesieur-Sebellin M, et al.
Am J Hum Genet . 2025 Mar; PMID: 40081376
The Mediator complex regulates protein-coding gene transcription by coordinating the interaction of upstream enhancers with the basal transcription machinery at the promoter. Pathogenic variants in Mediator subunits typically lead to...
4.
Artificial variables help to avoid over-clustering in single-cell RNA sequencing
DenAdel A, Ramseier M, Navia A, Shalek A, Raghavan S, Winter P, et al.
Am J Hum Genet . 2025 Mar; PMID: 40081375
Standard single-cell RNA sequencing (scRNA-seq) pipelines nearly always include unsupervised clustering as a key step in identifying biologically distinct cell types. A follow-up step in these pipelines is to test...
5.
Bi-allelic variants in three genes encoding distinct subunits of the vesicular AP-5 complex cause hereditary macular dystrophy
Kaminska K, Cancellieri F, Quinodoz M, Moye A, Bauwens M, Lin S, et al.
Am J Hum Genet . 2025 Mar; PMID: 40081374
Inherited retinal diseases (IRDs) are a genetically heterogeneous group of Mendelian disorders that often lead to progressive vision loss and involve approximately 300 distinct genes. Although variants in these loci...
6.
The contribution of coding variants to the heritability of multiple cancer types using UK Biobank whole-exome sequencing data
Wilcox N, Tyrer J, Dennis J, Yang X, Perry J, Gardner E, et al.
Am J Hum Genet . 2025 Mar; PMID: 40073867
Genome-wide association studies have been highly successful at identifying common variants associated with cancer; however, they do not explain all the inherited risks of cancer. Family-based studies, targeted sequencing, and,...
7.
The expanding global genomics landscape: Converging priorities from national genomics programs
Howley C, Haas M, Al Muftah W, Annan R, Green E, Lundgren B, et al.
Am J Hum Genet . 2025 Mar; PMID: 40068686
The global landscape of health genomics is expanding rapidly, with an increasing number of national and international initiatives, many of which are targeted toward accelerating the clinical implementation of genomic...
8.
Single-cell analyses reveal increased gene expression variability in human neurodevelopmental conditions
Upadhya S, Klein J, Nathanson A, Holton K, Barrett L
Am J Hum Genet . 2025 Mar; PMID: 40056913
Interindividual variation in phenotypic penetrance and severity is found in many neurodevelopmental conditions, although the underlying mechanisms remain largely unresolved. Within individuals, homogeneous cell types (i.e., genetically identical and in...
9.
Data-driven insights to inform splice-altering variant assessment
Sullivan P, Quinn J, Ajuyah P, Pinese M, Davis R, Cowley M
Am J Hum Genet . 2025 Mar; PMID: 40056912
Disease-causing genetic variants often disrupt mRNA splicing, an intricate process that is incompletely understood. Thus, accurate inference of which genetic variants will affect splicing and what their functional consequences will...
10.
2024 ASHG Leadership Award
Morton C
Am J Hum Genet . 2025 Mar; 112(3):478-480. PMID: 40054439
This article is based on the address given by the author at the 2024 meeting of The American Society of Human Genetics (ASHG) in Denver, CO. A video of the...