OOIR: Observatory of International Research

Papers

(The median citation count of Annual Review of Genomics and Human Genetics is 8. 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 2022-06-01 to 2026-06-01.)

Article	Citations
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research	141
Genetic Bases of Arthrogryposis Multiplex Congenita	122
From Tiny Exons to Big Insights: The Expanding Field of Microexons	113
Structural Variation in Cancer: Role, Prevalence, and Mechanisms	104
The Genomics of Aging at the Single-Cell Scale	85
Synthetic Regulatory Genomics	85
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility	57
A Journey from Blood Cells to Genes and Back	53
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care	52
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	51
Sickle Cell Disease: From Genetics to Curative Approaches	50
The Genetics of Brugada Syndrome	50
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty	46
Pangenomic Initiatives in the Middle East	45
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature	43
Clinical and Therapeutic Implications of Clonal Hematopoiesis	43
Deep Learning Sequence Models for Transcriptional Regulation	42
Organoid Perturbations as Tools to Explore Cellular Function and Plasticity	40
Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity	36
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood	33
How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models	32
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations	30
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome	29
Population Screening in Health Systems	27
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective	26

Regulation of Molecular Diagnostics	26
Functional Neurogenomics to Dissect Disease Mechanisms Across Models	26
Transcriptional Regulatory Modulation as a Potential Therapeutic Modality	24
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	23
Modeling Dynamics, Cell Type Specificity, and Perturbations in Gene Regulatory Networks	23
The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes	22
Establishing the Medical Actionability of Genomic Variants	21
Erratum: Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype	21
Cryptic Splicing in ALS: From Driving Disease Progression to Unlocking Novel Therapeutics	20
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules	20
Mapping Human Reproduction with Single-Cell Genomics	19
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives	18
How a Medical Student Found Himself in a Human Genome Free for All	18
Maintaining Transcriptional Specificity Through Mitosis	17
Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer	16
Equity in Genomic Medicine	16
Benefit-Sharing by Design: A Call to Action for Human Genomics Research	16
Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape	15
	15
Unraveling Non-B DNA Structures in the Era of Telomere-to-Telomere Genomes	14
Artificial Intelligence in Human Genetics	14
Human Synthetic Biology and Programmable Gene Regulation Control	12
RNA Crossing Membranes: Systems and Mechanisms Contextualizing Extracellular RNA and Cell Surface GlycoRNAs	10
Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine	9
Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype	9
Revisiting Founder Populations in an Age of Global Biobanks	9
A Personal Retrospective on the US Department of Energy Contribution to the Human Genome Project	8
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology	8
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection	8
Obtaining Complete Human Proteomes	8
The Role of Telomeres in Human Disease	8
Extrachromosomal DNA in Cancer	8