Latest Research in Genomic Variant Diagnostics

Top Research Topics in Genomic Variant Diagnostics

• Liver Disease Diagnosis and Treatment — 122 papers
• Genomics and Rare Diseases — 86 papers
• Hemoglobinopathies and Related Disorders — 47 papers
• Multiple Sclerosis Research Studies — 36 papers
• Genetic Associations and Epidemiology — 36 papers
• Metabolism and Genetic Disorders — 32 papers
• Prenatal Screening and Diagnostics — 26 papers
• Amyotrophic Lateral Sclerosis Research — 24 papers
• Epigenetics and DNA Methylation — 24 papers
• BRCA gene mutations in cancer — 21 papers

Highest-Cited Papers

1. Hunting for microsatellite instability in long-read data with Owl (2 citations)
2. Why variant effect predictors and multiplexed assays agree and disagree (4 citations)
3. Omic risk scores are associated with COPD-related traits across three cohorts (2 citations)
4. Lifelong Genetic Inhibition of PCSK9 and Hepatic Safety (1 citations)
5. A standardized framework resolves ambiguity in motor neuron loss across neurodegenerative diseases (1 citations)
6. Desmoplakin-Related Arrhythmogenic Cardiomyopathy Carriers and Desmosomal-Type Acantholysis: A Previous Description of the Keratinocyte “Fingerprint Sign”. Comment on Metze et al. Desmosomal-Type Acantholysis—A New Histologic Pattern Related to Mutat (1 citations)
7. A breast tissue-specific epigenetic clock provides accurate chronological age predictions and reveals de-correlation of age and DNA methylation in tumor-adjacent and tumor samples (2 citations)
8. Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease (1 citations)
9. Pituitary magnetic resonance imaging abnormalities and 1-year growth response in children with idiopathic growth hormone deficiency (1 citations)
10. A frequentist test of proportional colocalization after selecting relevant genetic variants (3 citations)
11. A methodological framework for real-world performance studies of clinical variant classification platforms at early organizational stages (1 citations)
12. dicast: a machine learning method for accurate structural variant detection from short-read sequencing data (1 citations)
13. Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life (1 citations)
14. New iPSC resource with long-read whole genome sequencing characterizations for enhanced in vitro modeling (1 citations)
15. Genomize-SEQ: an NGS data analysis platform for genomic variant classification and prioritization (2 citations)
16. Dietary intake, metabolic control and growth in patients with organic acidemia and urea cycle disorders
17. Blood glial fibrillary acidic protein in patients with multiple sclerosis: a systematic review and meta-analysis
18. Weak association of pathogenic ERBB4 variants with amyotrophic lateral sclerosis
19. Prenatal Ultrasonic Detection of Fetal Cleft Lip and Palate
20. Epilepsy with myoclonic-atonic seizures: a comprehensive review with emphasis on current and emerging pharmacotherapies

Sub-Regions

• Epidemiological Epigenomic Surveillance — 246 papers
• Pediatric Rare Neurogenetics — 139 papers
• Molecular Mechanistic Diagnostics — 123 papers
• Hereditary Neurometabolic Disorders — 119 papers
• Connective Tissue Genomics — 111 papers
• Hepatobiliary Variant Interpretation — 106 papers
• Neuroinflammatory Genomic Profiling — 104 papers
• Genotype-Phenotype Correlation Mapping — 80 papers