OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 43. 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 2022-08-01 to 2026-08-01.)

Article	Citations
This month in The Journal	556
2022 Curt Stern Award introduction: Heidi Rehm	541
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	326
“Choice of law” in precision medicine research	161
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	159
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	159
Fast and accurate Bayesian polygenic risk modeling with variational inference	155
Measuring disease likelihood in genomic ascertainment	121
Genetic determinants of IgG antibody response to COVID-19 vaccination	117
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	113
Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues	104
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	100
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	98
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	90
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes	88
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	86
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments	79
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes	76
This month in The Journal	72
Best practices for improving alignment and variant calling on human sex chromosomes	71
Genetic control of non-coding RNAs in the human brain and their implications for complex traits	69
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	68
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	67
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	65
This Month in The Journal	61

The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	60
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	59
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	59
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	57
2022 ASHG presidential address—One human race: Billions of genomes	55
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	54
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	54
This month in The Journal	53
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	53
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	53
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	51
Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding	48
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	48
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	47
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	46
2024 ASHG Scientific Achievement Award	45
This month in The Journal	45
Bi-allelic variants in CDK20 cause a severe ciliopathy with midline brain and facial anomalies	43
Benchmarking Mendelian randomization methods for causal inference using genome-wide association study summary statistics	43