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 2022-07-01 to 2026-07-01.)
ArticleCitations
Genetic Bases of Arthrogryposis Multiplex Congenita145
Integrating Large-Scale Protein Structure Prediction into Human Genetics Research124
From Tiny Exons to Big Insights: The Expanding Field of Microexons117
Structural Variation in Cancer: Role, Prevalence, and Mechanisms106
Common Principles Underlie Mitochondrial DNA Heteroplasmy Dynamics in the Germline and Soma91
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility86
Synthetic Regulatory Genomics58
The Genomics of Aging at the Single-Cell Scale56
A Journey from Blood Cells to Genes and Back55
Rethinking the Genomic Diversity Problem: Rejecting Inclusion in Defense of Indigenous Sovereignty54
Toward Realizing the Promise of AI in Precision Health Across the Spectrum of Care52
The Genetics of Brugada Syndrome52
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology49
Sickle Cell Disease: From Genetics to Curative Approaches48
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature45
Clinical and Therapeutic Implications of Clonal Hematopoiesis45
Pangenomic Initiatives in the Middle East44
Deep Learning Sequence Models for Transcriptional Regulation43
Organoid Perturbations as Tools to Explore Cellular Function and Plasticity38
Understanding the Role of Functional Noncoding Variation in Human Diseases with Lessons from Immunity35
Pharmacogenomics in Africa: A Potential Catalyst for Precision Medicine in Genetically Diverse Populations32
How Studying Rare Disease Leads to Mechanistic Insights and Therapeutic Development: Lessons from Nonmammalian Models31
The Genetic Determinants of Axial Length: From Microphthalmia to High Myopia in Childhood31
Mechanisms of Enhancer-Mediated Gene Activation in the Context of the 3D Genome31
Population Screening in Health Systems29
Functional Neurogenomics to Dissect Disease Mechanisms Across Models28
Inequalities and Inclusion in Genomics Applied to Healthcare: A Latin American Perspective26
Regulation of Molecular Diagnostics26
0.55764603614807