Annual Review of Genomics and Human Genetics

Papers
(The TQCC of Annual Review of Genomics and Human Genetics is 26. 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.)
ArticleCitations
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research141
Genetic Bases of Arthrogryposis Multiplex Congenita122
From Tiny Exons to Big Insights: The Expanding Field of Microexons113
Structural Variation in Cancer: Role, Prevalence, and Mechanisms104
The Genomics of Aging at the Single-Cell Scale85
Synthetic Regulatory Genomics85
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility57
A Journey from Blood Cells to Genes and Back53
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care52
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology51
Sickle Cell Disease: From Genetics to Curative Approaches50
The Genetics of Brugada Syndrome50
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty46
Pangenomic Initiatives in the Middle East45
Clinical and Therapeutic Implications of Clonal Hematopoiesis43
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature43
Deep Learning Sequence Models for Transcriptional Regulation42
Organoid Perturbations as Tools to Explore Cellular Function and Plasticity40
Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity36
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood33
How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models32
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations30
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome29
Population Screening in Health Systems27
Regulation of Molecular Diagnostics26
Functional Neurogenomics to Dissect Disease Mechanisms Across Models26
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective26
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