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 2021-10-01 to 2025-10-01.)

Article	Citations
Genetic determinants of IgG antibody response to COVID-19 vaccination	605
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	370
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	367
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	353
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	265
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	196
“Choice of law” in precision medicine research	176
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	137
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	129
This month in The Journal	124
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	123
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	118
2022 Curt Stern Award introduction: Heidi Rehm	117
Bayesian model comparison for rare-variant association studies	101
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	100
Genomic medicine year in review: 2021	79
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	79
This month in The Journal	74
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	73
The genomic signatures of natural selection in admixed human populations	69
Fast and accurate Bayesian polygenic risk modeling with variational inference	69
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	68
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	67
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	66
This month in The Journal	65

Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	65
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	64
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	62
This month in The Journal	62
2022 ASHG presidential address—One human race: Billions of genomes	61
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	61
This Month in The Journal	58
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	57
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	56
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	56
Accounting for age of onset and family history improves power in genome-wide association studies	56
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	55
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	55
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	54
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	54
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	53
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	51
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	51
Literature-based predictions of Mendelian disease therapies	50
Evolving use of ancestry, ethnicity, and race in genetics research—A survey spanning seven decades	50
2021 ASHG presidential address—Imagination and daring: Past, present, and future	50
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits	49
The ancestry and geographical origins of St Helena’s liberated Africans	49