OOIR: Observatory of International Research

Papers

(The TQCC of Annual Review of Genomics and Human Genetics is 23. 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 2022-04-01 to 2026-04-01.)

Article	Citations
Genetic Bases of Arthrogryposis Multiplex Congenita	130
From Tiny Exons to Big Insights: The Expanding Field of Microexons	114
Structural Variation in Cancer: Role, Prevalence, and Mechanisms	107
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research	98
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility	80
The Genomics of Aging at the Single-Cell Scale	77
A Journey from Blood Cells to Genes and Back	53
The Genetics of Brugada Syndrome	49
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	47
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care	46
Sickle Cell Disease: From Genetics to Curative Approaches	45
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty	43
Clinical and Therapeutic Implications of Clonal Hematopoiesis	43
Deep Learning Sequence Models for Transcriptional Regulation	39
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature	37
Pangenomic Initiatives in the Middle East	37
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations	35
Organoid Perturbations as Tools to Explore Cellular Function and Plasticity	35
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome	34
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood	32
Population Screening in Health Systems	31
Functional Neurogenomics to Dissect Disease Mechanisms Across Models	29
Regulation of Molecular Diagnostics	26
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective	24
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	23

The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes