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 2021-05-01 to 2025-05-01.)

Article	Citations
Genomic medicine year in review: 2021	473
Whole-exome sequencing reveals common and rare variants in immunologic and neurological genes implicated in achalasia	304
This month in The Journal	293
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	289
2022 Curt Stern Award introduction: Heidi Rehm	283
This month in The Journal	247
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	236
“Choice of law” in precision medicine research	184
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	177
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	167
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	166
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	127
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	120
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	111
Bayesian model comparison for rare-variant association studies	107
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals	105
Leveraging both individual-level genetic data and GWAS summary statistics increases polygenic prediction	104
Fast and accurate Bayesian polygenic risk modeling with variational inference	101
Genetic determinants of IgG antibody response to COVID-19 vaccination	99
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	95
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	92
The genomic signatures of natural selection in admixed human populations	85
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	85
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	84
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	83

Optical genome mapping enables constitutional chromosomal aberration detection	80
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	75
2022 ASHG presidential address—One human race: Billions of genomes	69
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	66
This month in The Journal	65
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	64
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	60
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	59
Accounting for age of onset and family history improves power in genome-wide association studies	58
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	58
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	58
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	57
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	57
Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	55
This Month in The Journal	55
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	55
Clustered mutations in the GRIK2 kainate receptor subunit gene underlie diverse neurodevelopmental disorders	54
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	53
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	51
Genome-wide analysis of common and rare variants via multiple knockoffs at biobank scale, with an application to Alzheimer disease genetics	51
2024 ASHG Scientific Achievement Award	50
Addressing underrepresentation in genomics research through community engagement	50
Epigenetic regulation of plastin 3 expression by the macrosatellite DXZ4 and the transcriptional regulator CHD4	50
SpliceVarDB: A comprehensive database of experimentally validated human splicing variants	50
Bi-allelic variants in neuronal cell adhesion molecule cause a neurodevelopmental disorder characterized by developmental delay, hypotonia, neuropathy/spasticity	50
Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion	50