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 2021-09-01 to 2025-09-01.)
ArticleCitations
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research93
From Tiny Exons to Big Insights: The Expanding Field of Microexons88
Structural Variation in Cancer: Role, Prevalence, and Mechanisms87
The Genomics of Aging at the Single-Cell Scale84
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility61
A Journey from Blood Cells to Genes and Back58
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care42
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty38
The Genetics of Brugada Syndrome38
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology37
Sickle Cell Disease: From Genetics to Curative Approaches35
Clinical and Therapeutic Implications of Clonal Hematopoiesis31
Deep Learning Sequence Models for Transcriptional Regulation30
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature30
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations27
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome24
Population Screening in Health Systems21
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood21
Functional Neurogenomics to Dissect Disease Mechanisms Across Models20
Establishing the Medical Actionability of Genomic Variants19
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review19
The Hallmarks of Aneuploidy in Cancer and Congenital Syndromes19
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective19
Regulation of Molecular Diagnostics19
Mapping Human Reproduction with Single-Cell Genomics18
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules17
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives16
Equity in Genomic Medicine15
How a Medical Student Found Himself in a Human Genome Free for All15
Maintaining Transcriptional Specificity Through Mitosis14
Human Synthetic Biology and Programmable Gene Regulation Control13
Federated Analysis for Privacy-Preserving Data Sharing: A Technical and Legal Primer13
Avoiding Liability and Other Legal Land Mines in the Evolving Genomics Landscape13
Benefit-Sharing by Design: A Call to Action for Human Genomics Research13
RNA Crossing Membranes: Systems and Mechanisms Contextualizing Extracellular RNA and Cell Surface GlycoRNAs12
Emerging Functions of the Repeat Genome in Nuclear Structure: A View from the Human Karyotype12
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection12
The Role of Telomeres in Human Disease10
Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine10
Obtaining Complete Human Proteomes10
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology10
Extrachromosomal DNA in Cancer9
A Journey Through Genetics to Biology8
Breast Cancer: Genetic Risk Assessment, Diagnostics, and Therapeutics in African Populations7
The Genetics and Functional Genomics of Osteoarthritis7
Workforce Development in Genomic Data Science for Health: A Worldview7
The Myriad Decision at 107
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies7
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