OOIR: Observatory of International Research

Papers

(The median citation count of Annual Review of Genomics and Human Genetics is 10. 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 2021-08-01 to 2025-08-01.)

Article	Citations
From Tiny Exons to Big Insights: The Expanding Field of Microexons	94
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research	92
Structural Variation in Cancer: Role, Prevalence, and Mechanisms	90
Therapeutic Opportunities of Targeting Canonical and Noncanonical PcG/TrxG Functions in Acute Myeloid Leukemia	84
Utility and Diversity: Challenges for Genomic Medicine	83
The Genomics of Aging at the Single-Cell Scale	83
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility	80
A Journey from Blood Cells to Genes and Back	80
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care	78
The Genetics of Brugada Syndrome	70
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	57
Sickle Cell Disease: From Genetics to Curative Approaches	55
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty	54
Deep Learning Sequence Models for Transcriptional Regulation	48
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature	41
Heart Development and Congenital Structural Heart Defects	37
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations	37
Clinical and Therapeutic Implications of Clonal Hematopoiesis	37
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome	35
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood	35
Functional Neurogenomics to Dissect Disease Mechanisms Across Models	31
Population Screening in Health Systems	28
Regulation of Molecular Diagnostics	27
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective	27
The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes	24

Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms	21
Mapping Human Reproduction with Single-Cell Genomics	20
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	20
Establishing the Medical Actionability of Genomic Variants	20
Brain Somatic Mutation in Aging and Alzheimer's Disease	20
Threespine Stickleback: A Model System For Evolutionary Genomics	19
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules	19
How a Medical Student Found Himself in a Human Genome Free for All	19
Maintaining Transcriptional Specificity Through Mitosis	18
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives	18
Equity in Genomic Medicine	17
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	16
Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape	15
Human Synthetic Biology and Programmable Gene Regulation Control	15
Applications of Single-Cell DNA Sequencing	14
A Long, Fulfilling Career in Human Genetics	14
RNA Crossing Membranes: Systems and Mechanisms Contextualizing Extracellular RNA and Cell Surface GlycoRNAs	14
Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine	13
The Role of Telomeres in Human Disease	13
Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype	13
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection	13
Obtaining Complete Human Proteomes	12
The Role of Electronic Health Records in Advancing Genomic Medicine	11
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology	11
Workforce Development in Genomic Data Science for Health: A Worldview	10
A Journey Through Genetics to Biology	10
The Myriad Decision at 10	10
Extrachromosomal DNA in Cancer	10