OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 50. 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 2021-06-01 to 2025-06-01.)

Article	Citations
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia	490
This month in The Journal	308
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	302
This month in The Journal	297
“Choice of law” in precision medicine research	254
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	243
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	191
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	182
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	172
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	168
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction	132
Bayesian model comparison for rare-variant association studies	132
Genomic medicine year in review: 2021	116
2022 Curt Stern Award introduction: Heidi Rehm	113
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	109
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	108
The genomic signatures of natural selection in admixed human populations	104
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	100
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	89
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	87
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	87
Fast and accurate Bayesian polygenic risk modeling with variational inference	86
Genetic determinants of IgG antibody response to COVID-19 vaccination	83
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	76
Optical genome mapping enables constitutional chromosomal aberration detection	66

Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals	66
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	66
2022 ASHG presidential address—One human race: Billions of genomes	65
This month in The Journal	65
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	63
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	62
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	62
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	61
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	60
This month in The Journal	60
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	59
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	58
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders	57
This Month in The Journal	57
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	56
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	56
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	52
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	52
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	52
Accounting for age of onset and family history improves power in genome-wide association studies	52
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	52
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	51
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	51
Transcriptome-wide association study of the plasma proteome reveals cis and trans regulatory mechanisms underlying complex traits	50
Response to anti-IL17 therapy in inflammatory disease is not strongly impacted by genetic background	50
2024 ASHG Scientific Achievement Award	50
Structural biology in variant interpretation: Perspectives and practices from two studies	50