American Journal of Human Genetics

Papers
(The H4-Index of American Journal of Human Genetics is 49. The table below lists those papers that are above that threshold based on CrossRef citation counts [max. 250 papers]. The publications cover those that have been published in the past four years, i.e., from 2021-01-01 to 2025-01-01.)
ArticleCitations
This month in The Journal365
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics241
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder230
EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies206
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes201
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models184
This Month in The Journal173
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase167
Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis145
Exome variant discrepancies due to reference-genome differences137
Host genetic effects in pneumonia133
The construction of cross-population polygenic risk scores using transfer learning132
2022 ASHG awards and addresses106
2022 Curt Stern Award introduction: Heidi Rehm94
The genomic signatures of natural selection in admixed human populations92
This month in The Journal91
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing89
This month in The Journal84
De novo variants in DENND5B cause a neurodevelopmental disorder84
This month in The Journal82
Failure to recombine is a common feature of human oogenesis82
Describing human populations: An evolving picture in human genetics research79
The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells78
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction77
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly76
75 years of The American Journal of Human Genetics76
Genomic medicine year in review: 202174
Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility73
“Choice of law” in precision medicine research71
Regional-specific calibration enables application of computational evidence for clinical classification of 5′ cis-regulatory variants in Mendelian disease70
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia69
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics68
Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls65
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO865
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation64
This month in The Journal64
An allelic-series rare-variant association test for candidate-gene discovery62
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis61
This month in The Journal60
Response to Li and Hopper58
Distinguishing pedigree relationships via multi-way identity by descent sharing and sex-specific genetic maps56
2021 ASHG awards and addresses54
2021 McKusick Leadership Award: Learning from communities53
Stephen T. Warren, Ph.D. (1953–2021): A remembrance52
Response to Luzzatto et al.52
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia51
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions51
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder51
Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits49
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues49
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