OOIR: Observatory of International Research

Papers

(The median citation count of Annual Review of Genomics and Human Genetics is 7. 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 2020-11-01 to 2024-11-01.)

Article	Citations
The Need for a Human Pangenome Reference Sequence	73
Genome-Wide Analysis of Human Long Noncoding RNAs: A Provocative Review	66
Transcriptional Regulation by (Super)Enhancers: From Discovery to Mechanisms	66
The Emergence and Global Spread of Noninvasive Prenatal Testing	62
Diverse Molecular Mechanisms Underlying Pathogenic Protein Mutations: Beyond the Loss-of-Function Paradigm	59
Threespine Stickleback: A Model System For Evolutionary Genomics	58
The Role of Telomeres in Human Disease	55
Applications of Single-Cell DNA Sequencing	53
The Yin and Yang of Histone Marks in Transcription	51
Brain Somatic Mutation in Aging and Alzheimer's Disease	37
Heart Development and Congenital Structural Heart Defects	31
Structural Variation in Cancer: Role, Prevalence, and Mechanisms	30
The Role of Genome Sequencing in Neonatal Intensive Care Units	29
Long-Read DNA Sequencing: Recent Advances and Remaining Challenges	29
Advancing Pharmacogenomics from Single-Gene to Preemptive Testing	25
Maintaining Transcriptional Specificity Through Mitosis	24
The Genetics and Typical Traits of Thoracic Aortic Aneurysm and Dissection	24
Decoding the Human Face: Progress and Challenges in Understanding the Genetics of Craniofacial Morphology	24
The Joubert–Meckel–Nephronophthisis Spectrum of Ciliopathies	24
Ethical Guidance in Human Paleogenomics: New and Ongoing Perspectives	22
Extrachromosomal DNA in Cancer	22
Investigating the Potential Roles of SINEs in the Human Genome	17
The Genetics of Brugada Syndrome	16
The Role of Electronic Health Records in Advancing Genomic Medicine	15
The UK Biobank: A Shining Example of Genome-Wide Association Study Science with the Power to Detect the Murky Complications of Real-World Epidemiology	15

Methods and Insights from Single-Cell Expression Quantitative Trait Loci	15
Predicting Archaic Hominin Phenotypes from Genomic Data	15
Obtaining Complete Human Proteomes	15
Global Governance of Human Genome Editing: What Are the Rules?	13
Utility and Diversity: Challenges for Genomic Medicine	12
The p-Arms of Human Acrocentric Chromosomes Play by a Different Set of Rules	12
Five Priorities of African Genomics Research: The Next Frontier	12
Scaling Genetic Counseling in the Genomics Era	12
Meiotic Chromosome Structure, the Synaptonemal Complex, and Infertility	11
Population Screening in Health Systems	11
The Genomics of Auditory Function and Disease	11
Avoiding Extinction: Recent Advances in Understanding Mechanisms of Mitochondrial DNA Purifying Selection in the Germline	10
Mosaicism in Tumor Suppressor Gene Syndromes: Prevalence, Diagnostic Strategies, and Transmission Risk	9
Genetic Disorders of the Extracellular Matrix: From Cell and Gene Therapy to Future Applications in Regenerative Medicine	9
Establishing the Medical Actionability of Genomic Variants	7
Open Data in the Era of the GDPR: Lessons from the Human Cell Atlas	7
DECIPHER: Improving Genetic Diagnosis Through Dynamic Integration of Genomic and Clinical Data	7
Return of Results in Genomic Research Using Large-Scale or Whole Genome Sequencing: Toward a New Normal	7
TGF-β and BMP Signaling Pathways in Skeletal Dysplasia with Short and Tall Stature	7