OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 49. 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 2021-08-01 to 2025-08-01.)

Article	Citations
This month in The Journal	542
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	335
This month in The Journal	328
The genomic signatures of natural selection in admixed human populations	324
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	256
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	190
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	184
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	177
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	149
Bayesian model comparison for rare-variant association studies	138
2022 Curt Stern Award introduction: Heidi Rehm	130
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	120
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	117
Genomic medicine year in review: 2021	109
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	109
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	107
“Choice of law” in precision medicine research	96
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	93
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	92
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia	90
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	87
Genetic determinants of IgG antibody response to COVID-19 vaccination	73
Fast and accurate Bayesian polygenic risk modeling with variational inference	73
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	69
Optical genome mapping enables constitutional chromosomal aberration detection	67

This month in The Journal	66
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	65
This month in The Journal	65
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	65
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	64
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	63
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	63
This Month in The Journal	63
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	61
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	59
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	59
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders	58
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	55
2022 ASHG presidential address—One human race: Billions of genomes	54
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	54
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	54
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	54
Accounting for age of onset and family history improves power in genome-wide association studies	53
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	53
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	53
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	52
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	52
2024 ASHG Scientific Achievement Award	51
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	49