OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 46. 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 2022-05-01 to 2026-05-01.)

Article	Citations
This month in The Journal	513
2022 Curt Stern Award introduction: Heidi Rehm	471
This month in The Journal	450
Genetic determinants of IgG antibody response to COVID-19 vaccination	272
Best practices for improving alignment and variant calling on human sex chromosomes	153
This month in The Journal	147
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	146
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	143
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	109
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	97
Genetic control of non-coding RNAs in the human brain and their implications for complex traits	95
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	95
Mendelian randomization linking metabolites with enzymes reveals pathway regulation and therapeutic avenues	93
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	92
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	91
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	88
Measuring disease likelihood in genomic ascertainment	82
The Electronic Medical Records and Genomics study: Design and analytic framework for assessing the impact of genome-informed risk assessments	78
“Choice of law” in precision medicine research	77
Fast and accurate Bayesian polygenic risk modeling with variational inference	76
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	71
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	70
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	69
Bi-allelic variants in the non-protein-coding minor spliceosome components RNU6ATAC and RNU4ATAC cause syndromic monogenic autoimmune diabetes	67
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	67

This Month in The Journal	65
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	64
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	63
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	63
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	63
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	62
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	60
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	60
This month in The Journal	56
Improving polygenic risk prediction performance by integrating electronic health records through phenotype embedding	55
2022 ASHG presidential address—One human race: Billions of genomes	54
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	54
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	53
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	52
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	51
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	50
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	50
This month in The Journal	49
2024 ASHG Scientific Achievement Award	48
A new annual feature of AJHG: All of Us Research Program year in review	47
Bi-allelic PRMT9 loss-of-function variants cause a syndromic form of intellectual disability	47
The ancestry and geographical origins of St Helena’s liberated Africans	46