OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 48. 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 2021-02-01 to 2025-02-01.)

Article	Citations
This month in The Journal	365
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	241
Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder	230
EPISPOT: An epigenome-driven approach for detecting and interpreting hotspots in molecular QTL studies	206
High-throughput functional dissection of noncoding SNPs with biased allelic enhancer activity for insulin resistance-relevant phenotypes	201
Deficiency of primate-specific SSX1 induced asthenoteratozoospermia in infertile men and cynomolgus monkey and tree shrew models	184
This Month in The Journal	173
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase	167
Genetic underpinning of the comorbidity between type 2 diabetes and osteoarthritis	145
Exome variant discrepancies due to reference-genome differences	137
The construction of cross-population polygenic risk scores using transfer learning	133
2022 ASHG awards and addresses	132
2022 Curt Stern Award introduction: Heidi Rehm	106
The genomic signatures of natural selection in admixed human populations	94
This month in The Journal	92
Identifying risk variants for embryo aneuploidy using ultra-low coverage whole-genome sequencing from preimplantation genetic testing	91
De novo variants in DENND5B cause a neurodevelopmental disorder	89
This month in The Journal	84
Describing human populations: An evolving picture in human genetics research	84
A mutation in SLC37A4 causes a dominantly inherited congenital disorder of glycosylation characterized by liver dysfunction	82
The COPD GWAS gene ADGRG6 instructs function and injury response in human iPSC-derived type II alveolar epithelial cells	82
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly	79
75 years of The American Journal of Human Genetics	76
Genomic medicine year in review: 2021	74
Autoimmune alleles at the major histocompatibility locus modify melanoma susceptibility	73

“Choice of law” in precision medicine research	71
Genome-wide analyses reveal a potential role for the MAPT, MOBP, and APOE loci in sporadic frontotemporal dementia	70
Genome- and transcriptome-wide association studies of 386,000 Asian and European-ancestry women provide new insights into breast cancer genetics	69
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8	68
This month in The Journal	65
Simultaneous inference of parental admixture proportions and admixture times from unphased local ancestry calls	65
Spectrum of splicing variants in disease genes and the ability of RNA analysis to reduce uncertainty in clinical interpretation	64
An allelic-series rare-variant association test for candidate-gene discovery	64
Analysis of MRI-derived spleen iron in the UK Biobank identifies genetic variation linked to iron homeostasis and hemolysis	62
This month in The Journal	61
Response to Li and Hopper	60
2021 ASHG awards and addresses	58
2021 McKusick Leadership Award: Learning from communities	56
Response to Luzzatto et al.	54
Stephen T. Warren, Ph.D. (1953–2021): A remembrance	53
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	52
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder	52
Probabilistic integration of transcriptome-wide association studies and colocalization analysis identifies key molecular pathways of complex traits	51
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	51
Association between telomere length and Plasmodium falciparum malaria endemicity in sub-Saharan Africans	49
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	49
Imputation accuracy across global human populations	48
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders	48
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	48