Annual Review of Genomics and Human Genetics

Papers
(The median citation count of Annual Review of Genomics and Human Genetics is 10. 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 2020-05-01 to 2024-05-01.)
ArticleCitations
Pangenome Graphs150
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next138
The Genetics of Epilepsy117
The Genomics and Genetics of Oxygen Homeostasis71
The Need for a Human Pangenome Reference Sequence70
Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms61
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases59
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review57
The Emergence and Global Spread of Noninvasive Prenatal Testing54
The Laminopathies and the Insights They Provide into the Structural and Functional Organization of the Nucleus49
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm47
Threespine Stickleback: A Model System For Evolutionary Genomics47
Applications of Single-Cell DNA Sequencing45
The Role of Telomeres in Human Disease44
The Yin and Yang of Histone Marks in Transcription43
Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination42
How Natural Genetic Variation Shapes Behavior40
Pedigrees and Perpetrators: Uses of DNA and Genealogy in Forensic Investigations37
Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange35
Brain Somatic Mutation in Aging and Alzheimer's Disease32
Using Single-Cell and Spatial Transcriptomes to Understand Stem Cell Lineage Specification During Early Embryo Development32
Population Screening for Inherited Predisposition to Breast and Ovarian Cancer31
Recent Advances in Understanding the Genetic Architecture of Autism30
The Regulation of Mitochondrial Replacement Techniques Around the World26
Heart Development and Congenital Structural Heart Defects26
Structural Variation in Cancer: Role, Prevalence, and Mechanisms25
The Role of Genome Sequencing in Neonatal Intensive Care Units24
RNA Conformation Capture by Proximity Ligation23
Genetic Influences on Disease Subtypes23
Progress, Challenges, and Surprises in Annotating the Human Genome20
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies19
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology19
Cultivating DNA Sequencing Technology After the Human Genome Project18
Maintaining Transcriptional Specificity Through Mitosis18
Extrachromosomal DNA in Cancer17
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection17
Enhancer Predictions and Genome-Wide Regulatory Circuits17
Advancing Pharmacogenomics from Single-Gene to Preemptive Testing15
Long-Read DNA Sequencing: Recent Advances and Remaining Challenges15
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives14
Investigating the Potential Roles of SINEs in the Human Genome14
The Role of Electronic Health Records in Advancing Genomic Medicine14
The Genetics of Brugada Syndrome14
Predicting Archaic Hominin Phenotypes from Genomic Data13
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology12
Utility and Diversity: Challenges for Genomic Medicine12
Methods and Insights from Single-Cell Expression Quantitative Trait Loci12
Models of Technology Transfer for Genome-Editing Technologies11
The Genomics of Auditory Function and Disease11
Scaling Genetic Counseling in the Genomics Era11
Cell Lineage Tracing and Cellular Diversity in Humans10
Global Governance of Human Genome Editing: What Are the Rules?10
Five Priorities of African Genomics Research: The Next Frontier10
Population Screening in Health Systems10
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