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 2021-12-01 to 2025-12-01.)

Article	Citations
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	428
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	398
“Choice of law” in precision medicine research	385
Genomic medicine year in review: 2021	281
This month in The Journal	214
2022 Curt Stern Award introduction: Heidi Rehm	210
This month in The Journal	144
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	134
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	134
Bayesian model comparison for rare-variant association studies	128
The genomic signatures of natural selection in admixed human populations	126
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	105
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	104
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	87
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	82
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	81
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	79
Fast and accurate Bayesian polygenic risk modeling with variational inference	77
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	76
Genetic determinants of IgG antibody response to COVID-19 vaccination	73
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	73
This month in The Journal	72
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	72
This Month in The Journal	68
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	66

Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	65
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	64
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	62
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	62
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	61
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	61
This month in The Journal	60
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	59
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	59
2022 ASHG presidential address—One human race: Billions of genomes	59
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	58
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	54
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	54
Accounting for age of onset and family history improves power in genome-wide association studies	53
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
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	52
2021 ASHG presidential address—Imagination and daring: Past, present, and future	52
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	52
2024 ASHG Scientific Achievement Award	51
This month in The Journal	51
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	49
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits	49
A syndromic neurodevelopmental disorder caused by rare variants in PPFIA3	48
A new annual feature of AJHG: All of Us Research Program year in review	48