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 2022-08-01 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
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations	32
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

Population Screening in Health Systems	29
Regulation of Molecular Diagnostics	27
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective	26
Transcriptional Regulatory Modulation as a Potential Therapeutic Modality	25
The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes	24
Erratum: Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype	24
Modeling Dynamics, Cell Type Specificity, and Perturbations in Gene Regulatory Networks	24
Human Sex Chromosome Biology in the Genomic Era	23
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	23
Establishing the Medical Actionability of Genomic Variants	22
Cryptic Splicing in ALS: From Driving Disease Progression to Unlocking Novel Therapeutics	21
How a Medical Student Found Himself in a Human Genome Free for All	21
Mapping Human Reproduction with Single-Cell Genomics	20
Equity in Genomic Medicine	18
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives	18
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules	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	16
Artificial Intelligence in Human Genetics	16
	14
Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape	14
Unraveling Non-B DNA Structures in the Era of Telomere-to-Telomere Genomes	11
Human Synthetic Biology and Programmable Gene Regulation Control	11
Revisiting Founder Populations in an Age of Global Biobanks	10
RNA Crossing Membranes: Systems and Mechanisms Contextualizing Extracellular RNA and Cell Surface GlycoRNAs	10
Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype	10
A Personal Retrospective on the US Department of Energy Contribution to the Human Genome Project	9
Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine	9
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection	9