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 2020-07-01 to 2024-07-01.)

Article	Citations
Pangenome Graphs	161
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next	146
The Genetics of Epilepsy	125
The Genomics and Genetics of Oxygen Homeostasis	76
The Need for a Human Pangenome Reference Sequence	70
Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms	64
New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases	61
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	59
The Emergence and Global Spread of Noninvasive Prenatal Testing	57
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm	52
Threespine Stickleback: A Model System For Evolutionary Genomics	52
The Laminopathies and the Insights They Provide into the Structural and Functional Organization of the Nucleus	50
Applications of Single-Cell DNA Sequencing	48
The Yin and Yang of Histone Marks in Transcription	47
Looking Beyond GINA: Policy Approaches to Address Genetic Discrimination	46
The Role of Telomeres in Human Disease	46
How Natural Genetic Variation Shapes Behavior	42
Pedigrees and Perpetrators: Uses of DNA and Genealogy in Forensic Investigations	40
Brain Somatic Mutation in Aging and Alzheimer's Disease	37
Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange	35
Using Single-Cell and Spatial Transcriptomes to Understand Stem Cell Lineage Specification During Early Embryo Development	34
Population Screening for Inherited Predisposition to Breast and Ovarian Cancer	32
Recent Advances in Understanding the Genetic Architecture of Autism	30
Heart Development and Congenital Structural Heart Defects	28
Structural Variation in Cancer: Role, Prevalence, and Mechanisms	27

The Regulation of Mitochondrial Replacement Techniques Around the World	26
The Role of Genome Sequencing in Neonatal Intensive Care Units	25
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology	23
Genetic Influences on Disease Subtypes	23
RNA Conformation Capture by Proximity Ligation	23
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection	21
Progress, Challenges, and Surprises in Annotating the Human Genome	21
Long-Read DNA Sequencing: Recent Advances and Remaining Challenges	20
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies	20
Cultivating DNA Sequencing Technology After the Human Genome Project	20
Maintaining Transcriptional Specificity Through Mitosis	20
Extrachromosomal DNA in Cancer	18
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives	17
Enhancer Predictions and Genome-Wide Regulatory Circuits	17
Advancing Pharmacogenomics from Single-Gene to Preemptive Testing	16
The Role of Electronic Health Records in Advancing Genomic Medicine	15
Investigating the Potential Roles of SINEs in the Human Genome	15
Predicting Archaic Hominin Phenotypes from Genomic Data	14
The Genetics of Brugada Syndrome	14
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	14
Utility and Diversity: Challenges for Genomic Medicine	12
Obtaining Complete Human Proteomes	12
Methods and Insights from Single-Cell Expression Quantitative Trait Loci	12
Scaling Genetic Counseling in the Genomics Era	12
Models of Technology Transfer for Genome-Editing Technologies	11
The Genomics of Auditory Function and Disease	11
Five Priorities of African Genomics Research: The Next Frontier	11
Cell Lineage Tracing and Cellular Diversity in Humans	11
Population Screening in Health Systems	10
Global Governance of Human Genome Editing: What Are the Rules?	10
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules	10