OOIR: Observatory of International Research

Papers

(The H4-Index of American Journal of Human Genetics is 48. 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 2021-11-01 to 2025-11-01.)

Article	Citations
Exome copy number variant detection, analysis, and classification in a large cohort of families with undiagnosed rare genetic disease	389
Potential corporate uses of polygenic indexes: Starting a conversation about the associated ethics and policy issues	380
Genome-wide aggregated trans-effects on risk of type 1 diabetes: A test of the “omnigenic” sparse effector hypothesis of complex trait genetics	368
The genomic signatures of natural selection in admixed human populations	273
Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability	210
Variants in ZFX are associated with an X-linked neurodevelopmental disorder with recurrent facial gestalt	192
“Choice of law” in precision medicine research	141
Genomic medicine year in review: 2021	127
Alternative polyadenylation quantitative trait methylation mapping in human cancers provides clues into the molecular mechanisms of APA	127
This month in The Journal	124
2022 Curt Stern Award introduction: Heidi Rehm	123
Allele-specific epigenetic activity in prostate cancer and normal prostate tissue implicates prostate cancer risk mechanisms	103
This month in The Journal	100
Genomes and epigenomes of matched normal and tumor breast tissue reveal diverse evolutionary trajectories and tumor-host interactions	84
Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction	79
Polygenic transcriptome risk scores for COPD and lung function improve cross-ethnic portability of prediction in the NHLBI TOPMed program	78
AXIN1 bi-allelic variants disrupting the C-terminal DIX domain cause craniometadiaphyseal osteosclerosis with hip dysplasia	76
Bayesian model comparison for rare-variant association studies	72
Fast and accurate Bayesian polygenic risk modeling with variational inference	72
mBAT-combo: A more powerful test to detect gene-trait associations from GWAS data	71
Functional analysis of the 1p34.3 risk locus implicates GNL2 in high-grade serous ovarian cancer	69
Evaluating large language models on medical, lay-language, and self-reported descriptions of genetic conditions	69
Genetic determinants of IgG antibody response to COVID-19 vaccination	67
This month in The Journal	66
This Month in The Journal	66

Biallelic Mutations in ADPRHL2, Encoding ADP-Ribosylhydrolase 3, Lead to a Degenerative Pediatric Stress-Induced Epileptic Ataxia Syndrome	65
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome	63
2022 ASHG presidential address—One human race: Billions of genomes	62
Common variants increase risk for congenital diaphragmatic hernia within the context of de novo variants	61
Sequence variants in HECTD1 result in a variable neurodevelopmental disorder	60
Human leukocyte antigen variation is associated with cytomegalovirus serostatus in healthy individuals	58
This month in The Journal	58
Hypometric genetics: Improved power in genetic discovery by incorporating quality control flags	58
Neurodevelopmental copy-number variants: A roadmap to improving outcomes by uniting patient advocates, researchers, and clinicians for collective impact	57
Accounting for age of onset and family history improves power in genome-wide association studies	57
Subcutaneous adipose tissue splice quantitative trait loci reveal differences in isoform usage associated with cardiometabolic traits	56
shaPRS: Leveraging shared genetic effects across traits or ancestries improves accuracy of polygenic scores	54
A spectrum of recessiveness among Mendelian disease variants in UK Biobank	52
Genetic variants in DDX53 contribute to autism spectrum disorder associated with the Xp22.11 locus	52
Improved detection of aberrant splicing with FRASER 2.0 and the intron Jaccard index	51
Literature-based predictions of Mendelian disease therapies	51
The impact of inversions across 33,924 families with rare disease from a national genome sequencing project	51
Actionable genetic variants in 4,198 Scottish participants from the Orkney and Shetland founder populations and implementation of return of results	51
Natural selection acting on complex traits hampers the predictive accuracy of polygenic scores in ancient samples	51
2021 ASHG presidential address—Imagination and daring: Past, present, and future	50
2022 Curt Stern Award: Advancing genomic medicine through collaboration and data sharing	49
Unraveling the impact of VHL exon 2 mutations in erythrocytosis or von Hippel-Lindau disease identified RNA-binding proteins involved in VHL splicing	48
This month in The Journal	48
Genetics of cell-type-specific post-transcriptional gene regulation during human neurogenesis	48
2024 ASHG Scientific Achievement Award	48