OOIR: Observatory of International Research

Papers

(The TQCC of Annual Review of Genomics and Human Genetics is 26. 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 2022-08-01 to 2026-08-01.)

Article	Citations
Genetic Bases of Arthrogryposis Multiplex Congenita	150
From Tiny Exons to Big Insights: The Expanding Field of Microexons	127
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research	119
Structural Variation in Cancer: Role, Prevalence, and Mechanisms	109
Common Principles Underlie Mitochondrial DNA Heteroplasmy Dynamics in the Germline and Soma	93
The Genomics of Aging at the Single-Cell Scale	87
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility	62
Synthetic Regulatory Genomics	58
A Journey from Blood Cells to Genes and Back	57
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care	55
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	52
The Genetics of Brugada Syndrome	52
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty	52
Sickle Cell Disease: From Genetics to Curative Approaches	50
Clinical and Therapeutic Implications of Clonal Hematopoiesis	49
Pangenomic Initiatives in the Middle East	49
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature	45
Deep Learning Sequence Models for Transcriptional Regulation	44
Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity	40
How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models	36
Organoid Perturbations as Tools to Explore Cellular Function and Plasticity	36
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome	32
Functional Neurogenomics to Dissect Disease Mechanisms Across Models	32
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood	32
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations	32

Population Screening in Health Systems	29
Regulation of Molecular Diagnostics	27
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective	26