OOIR: Observatory of International Research

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.)

Article	Citations
Pangenome Graphs	150
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next	138
The Genetics of Epilepsy	117
The Genomics and Genetics of Oxygen Homeostasis	71
The Need for a Human Pangenome Reference Sequence	70
Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms	61
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases	59
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	57
The Emergence and Global Spread of Noninvasive Prenatal Testing	54
The Laminopathies and the Insights They Provide into the Structural and Functional Organization of the Nucleus	49
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm	47
Threespine Stickleback: A Model System For Evolutionary Genomics	47
Applications of Single-Cell DNA Sequencing	45
The Role of Telomeres in Human Disease	44
The Yin and Yang of Histone Marks in Transcription	43
Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination	42
How Natural Genetic Variation Shapes Behavior	40
Pedigrees and Perpetrators: Uses of DNA and Genealogy in Forensic Investigations	37
Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange	35
Brain Somatic Mutation in Aging and Alzheimer's Disease	32
Using Single-Cell and Spatial Transcriptomes to Understand Stem Cell Lineage Specification During Early Embryo Development	32
Population Screening for Inherited Predisposition to Breast and Ovarian Cancer	31
Recent Advances in Understanding the Genetic Architecture of Autism	30
Heart Development and Congenital Structural Heart Defects	26
The Regulation of Mitochondrial Replacement Techniques Around the World	26

Structural Variation in Cancer: Role, Prevalence, and Mechanisms	25
The Role of Genome Sequencing in Neonatal Intensive Care Units	24
RNA Conformation Capture by Proximity Ligation	23
Genetic Influences on Disease Subtypes	23
Progress, Challenges, and Surprises in Annotating the Human Genome	20
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies	19
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology	19
Cultivating DNA Sequencing Technology After the Human Genome Project	18
Maintaining Transcriptional Specificity Through Mitosis	18
Extrachromosomal DNA in Cancer	17
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection	17
Enhancer Predictions and Genome-Wide Regulatory Circuits	17
Advancing Pharmacogenomics from Single-Gene to Preemptive Testing	15
Long-Read DNA Sequencing: Recent Advances and Remaining Challenges	15
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives	14
Investigating the Potential Roles of SINEs in the Human Genome	14
The Role of Electronic Health Records in Advancing Genomic Medicine	14
The Genetics of Brugada Syndrome	14
Predicting Archaic Hominin Phenotypes from Genomic Data	13
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	12
Utility and Diversity: Challenges for Genomic Medicine	12
Methods and Insights from Single-Cell Expression Quantitative Trait Loci	12
Models of Technology Transfer for Genome-Editing Technologies	11
The Genomics of Auditory Function and Disease	11
Scaling Genetic Counseling in the Genomics Era	11
Cell Lineage Tracing and Cellular Diversity in Humans	10
Global Governance of Human Genome Editing: What Are the Rules?	10
Five Priorities of African Genomics Research: The Next Frontier	10
Population Screening in Health Systems	10