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 2021-09-01 to 2025-09-01.)

Article	Citations
This month in The Journal	569
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	353
This month in The Journal	346
The genomic signatures of natural selection in admixed human populations	339
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	261
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	193
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	162
“Choice of law” in precision medicine research	134
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	125
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	120
Fast and accurate Bayesian polygenic risk modeling with variational inference	115
Bayesian model comparison for rare-variant association studies	114
2022 Curt Stern Award introduction: Heidi Rehm	113
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	99
Genomic medicine year in review: 2021	98
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	97
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	92
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	78
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	75
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	71
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	69
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	67
Genetic determinants of IgG antibody response to COVID-19 vaccination	66
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
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	64
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	64
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	64
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	62
Accounting for age of onset and family history improves power in genome-wide association studies	61
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	61
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	58
This Month in The Journal	57
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	56
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	56
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	54
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	54
2022 ASHG presidential address—One human race: Billions of genomes	54
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	53
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	52
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	52
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders	52
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	50
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	50
2024 ASHG Scientific Achievement Award	50
This month in The Journal	49
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4	49
Literature-based predictions of Mendelian disease therapies	49