Latest Research in Genotype-Phenotype Correlation Mapping

Top Research Topics in Genotype-Phenotype Correlation Mapping

• Genomics and Rare Diseases — 21 papers
• Epilepsy research and treatment — 6 papers
• Genomic variations and chromosomal abnormalities — 4 papers
• Amyotrophic Lateral Sclerosis Research — 3 papers
• Neurological diseases and metabolism — 3 papers
• Liver Disease Diagnosis and Treatment — 3 papers
• Muscle Physiology and Disorders — 2 papers
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities — 2 papers
• Genetic Syndromes and Imprinting — 2 papers
• Hereditary Neurological Disorders — 2 papers

Highest-Cited Papers

1. A frequentist test of proportional colocalization after selecting relevant genetic variants (3 citations)
2. A methodological framework for real-world performance studies of clinical variant classification platforms at early organizational stages (1 citations)
3. Weak association of pathogenic ERBB4 variants with amyotrophic lateral sclerosis
4. Bridging epidemiological gaps in rare diseases: Overcoming systemic and socio-economic challenges through integrated solutions
5. Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
6. Cognitive flexibility deficits differ between the sexes in a transchromosomic mouse model of Down syndrome
7. SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago
8. Strengthening the Genetic Evidence for the FLNA c.5776C>T (p.Pro1926Ser) Variant: Comments on Segregation, X-inactivation, and Digenic Considerations
9. Spectrum of Hereditary Ataxia in Omani Children
10. Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant
11. Cerebrospinal fluid analysis from physiological principles and lumbar puncture to analytical interpretation in clinical neurology
12. Genotype–cognitive phenotype associations in Duchenne muscular dystrophy: the role of mutation location and ambulatory status in a pediatric cohort
13. Persistent tic disorders are associated with 17q12 duplications
14. TERNER SINDROMI (45,X)
15. Genetic Regulation of DNA Methylation and Its Mediating Role in Blood Pressure: A Genome‐Wide Twin Study
16. A rare coexistence of 47,XXX and Silver–Russell syndrome: a case report
17. Clinical course and biomarkers in patients with type 1 Gaucher disease and Parkinson's disease: A retrospective cohort study
18. Clinical, Neuroimaging, and Molecular Characterization of a Juvenile PLAN-like Phenotype in Two Siblings Carrying p.Arg645Gln and an Unresolved Exon 4–7 Copy-Number Gain: A Case Report
19. Disruption of GAD1 protein architecture by a novel missense variant in a consanguineous family with autosomal recessive intellectual disability
20. Genotype-informed clinical subtyping and treatment landscape of CSNK2B-related Poirier-Bienvenu neurodevelopmental syndrome

Sub-Regions

• Amyotrophic Lateral Sclerosis Research — 22 papers
• Metabolism and Genetic Disorders — 20 papers
• Epilepsy research and treatment — 19 papers
• Genomics and Rare Diseases — 17 papers
• Genomic variations and chromosomal abnormalities — 13 papers
• Neurological diseases and metabolism — 12 papers