OOIR: Observatory of International Research

Papers

(The median citation count of Annual Review of Genomics and Human Genetics is 9. 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 2022-05-01 to 2026-05-01.)

Article	Citations
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research	134
Genetic Bases of Arthrogryposis Multiplex Congenita	120
Structural Variation in Cancer: Role, Prevalence, and Mechanisms	111
From Tiny Exons to Big Insights: The Expanding Field of Microexons	101
The Genomics of Aging at the Single-Cell Scale	83
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility	81
A Journey from Blood Cells to Genes and Back	54
The Genetics of Brugada Syndrome	51
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care	50
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty	48
Sickle Cell Disease: From Genetics to Curative Approaches	48
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	46
Deep Learning Sequence Models for Transcriptional Regulation	45
Pangenomic Initiatives in the Middle East	44
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature	42
Clinical and Therapeutic Implications of Clonal Hematopoiesis	40
Organoid Perturbations as Tools to Explore Cellular Function and Plasticity	39
Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity	38
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations	35
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood	33
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome	31
Functional Neurogenomics to Dissect Disease Mechanisms Across Models	29
Population Screening in Health Systems	26
Regulation of Molecular Diagnostics	25
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective	24

The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes	23
Transcriptional Regulatory Modulation as a Potential Therapeutic Modality	23
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	23
Modeling Dynamics, Cell Type Specificity, and Perturbations in Gene Regulatory Networks	23
Establishing the Medical Actionability of Genomic Variants	22
Cryptic Splicing in ALS: From Driving Disease Progression to Unlocking Novel Therapeutics	21
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives	19
How a Medical Student Found Himself in a Human Genome Free for All	19
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules	19
Mapping Human Reproduction with Single-Cell Genomics	18
Maintaining Transcriptional Specificity Through Mitosis	18
Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer	17
Benefit-Sharing by Design: A Call to Action for Human Genomics Research	17
Equity in Genomic Medicine	17
Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape	16
	16
RNA Crossing Membranes: Systems and Mechanisms Contextualizing Extracellular RNA and Cell Surface GlycoRNAs	15
Human Synthetic Biology and Programmable Gene Regulation Control	15
Artificial Intelligence in Human Genetics	15
Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype	13
Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine	12
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection	10
A Personal Retrospective on the US Department of Energy Contribution to the Human Genome Project	10
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology	9
Obtaining Complete Human Proteomes	9
The Role of Telomeres in Human Disease	9