Annual Review of Genomics and Human Genetics

Papers
(The median citation count of Annual Review of Genomics and Human Genetics is 7. 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 2021-06-01 to 2025-06-01.)
ArticleCitations
Structural Variation in Cancer: Role, Prevalence, and Mechanisms93
From Tiny Exons to Big Insights: The Expanding Field of Microexons89
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research85
Therapeutic Opportunities of Targeting Canonical and Noncanonical PcG/TrxG Functions in Acute Myeloid Leukemia81
The Genomics of Aging at the Single-Cell Scale80
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility79
Utility and Diversity: Challenges for Genomic Medicine76
A Journey from Blood Cells to Genes and Back74
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty68
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care66
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology53
The Genetics of Brugada Syndrome52
Sickle Cell Disease: From Genetics to Curative Approaches50
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature48
Deep Learning Sequence Models for Transcriptional Regulation37
Clinical and Therapeutic Implications of Clonal Hematopoiesis35
Heart Development and Congenital Structural Heart Defects34
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations33
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood33
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome33
Functional Neurogenomics to Dissect Disease Mechanisms Across Models31
Population Screening in Health Systems26
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective25
Regulation of Molecular Diagnostics25
The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes24
Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms20
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review19
Establishing the Medical Actionability of Genomic Variants19
How a Medical Student Found Himself in a Human Genome Free for All18
Brain Somatic Mutation in Aging and Alzheimer's Disease18
Mapping Human Reproduction with Single-Cell Genomics18
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules17
Threespine Stickleback: A Model System For Evolutionary Genomics17
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives17
Equity in Genomic Medicine15
Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer15
Maintaining Transcriptional Specificity Through Mitosis15
Benefit-Sharing by Design: A Call to Action for Human Genomics Research14
A Long, Fulfilling Career in Human Genetics13
Human Synthetic Biology and Programmable Gene Regulation Control13
Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape13
RNA Crossing Membranes: Systems and Mechanisms Contextualizing Extracellular RNA and Cell Surface GlycoRNAs13
Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype12
Applications of Single-Cell DNA Sequencing12
Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine12
The Role of Telomeres in Human Disease11
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection11
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology10
Obtaining Complete Human Proteomes10
The Role of Electronic Health Records in Advancing Genomic Medicine10
Extrachromosomal DNA in Cancer9
The Myriad Decision at 107
Workforce Development in Genomic Data Science for Health: A Worldview7
Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations7
A Journey Through Genetics to Biology7
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