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 2022-01-01 to 2026-01-01.)

Article	Citations
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	445
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	413
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	399
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	282
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	225
“Choice of law” in precision medicine research	145
This month in The Journal	137
2022 Curt Stern Award introduction: Heidi Rehm	136
This month in The Journal	130
Genetic determinants of IgG antibody response to COVID-19 vaccination	129
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	107
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	88
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	84
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	83
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	83
Fast and accurate Bayesian polygenic risk modeling with variational inference	82
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	81
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	77
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	76
The genomic signatures of natural selection in admixed human populations	74
Genetic control of non-coding RNAs in the human brain and their implications for complex traits	74
This month in The Journal	71
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	69
This Month in The Journal	69
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	67

Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	63
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	63
This month in The Journal	62
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	61
2022 ASHG presidential address—One human race: Billions of genomes	61
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	61
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	60
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	60
Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding	57
Accounting for age of onset and family history improves power in genome-wide association studies	56
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	55
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	55
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	55
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	53
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	52
2021 ASHG presidential address—Imagination and daring: Past, present, and future	52
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	52
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	51
2024 ASHG Scientific Achievement Award	51
This month in The Journal	51
To boldly go: Unpacking the NHGRI’s bold predictions for human genomics by 2030	49
A new annual feature of AJHG: All of Us Research Program year in review	49
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3	49
The ancestry and geographical origins of St Helena’s liberated Africans	48