Latest Research in Pediatric Rare Neurogenetics

Top Research Topics in Pediatric Rare Neurogenetics

• Genomics and Rare Diseases — 17 papers
• Neurogenetic and Muscular Disorders Research — 15 papers
• Liver Disease Diagnosis and Treatment — 10 papers
• Amyotrophic Lateral Sclerosis Research — 7 papers
• Metabolism and Genetic Disorders — 7 papers
• Genomic variations and chromosomal abnormalities — 6 papers
• Genetic Associations and Epidemiology — 6 papers
• Prenatal Screening and Diagnostics — 4 papers
• BRCA gene mutations in cancer — 3 papers
• Autism Spectrum Disorder Research — 3 papers

Highest-Cited Papers

1. Epilepsy Is Part of the CNS Phenotype in Classic Infantile Pompe Disease (1 citations)
2. Longitudinal EEG, Seizure, and Developmental Patterns in Children With CDKL5 Deficiency Disorder in the First 2 Years of Life (1 citations)
3. Epilepsy with myoclonic-atonic seizures: a comprehensive review with emphasis on current and emerging pharmacotherapies
4. Prenatal to postnatal outcomes in a whole maternal isodisomy 6: a case report with favorable prognosis and literature review
5. A familial 22.59 Mb deletion of the 10q11.21q21.3 region on the neocentromeric chromosome 10 with coexistence of SMC(10): Case report and review of literature.
6. Extending the ATP9A ‐Related Phenotypic Spectrum: Indication of Schizophrenia Susceptibility
7. Clinical outcome assessments in Pompe disease: a pragmatic review of their validity, concept coverage, and value in clinical practice and clinical research
8. Neuropathology of a patient with Parkinson's disease and biallelic expansion in RFC1
9. Age-specific upper reference limits for Simoa-measured cerebrospinal fluid glial fibrillary acidic protein: a cross-sectional DANPAIN biobank study
10. Genome-wide cross-trait analysis to compare genetic architecture between Parkinson’s disease and kidney-related traits
11. Pubertal delay in patients with paternally derived 15q11.2–q13 duplication syndrome and MKRN3 overexpression
12. Diagnosis Through Whole Genome Sequencing and Care Utilization in Children With Severe Illness
13. A Quantitative Systems Pharmacology Model of Human Leucine Metabolism
14. Genomic Screening for Infants and Reproductive Adults
15. Molecular Pathology Insights into ALS Susceptibility: Exploratory Association of CYP46A1 rs754203 in Brazilian Case–Control Study
16. PATAU SINDROMI (TRISOMIYA 13)
17. TERNER SINDROMI (45,X)
18. PATAU SINDROMI (TRISOMIYA 13)
19. Dried Blood Spot-Based Monitoring of Dietary Treatment in Children, Adolescents, and Young Adults with Inherited Disorders of Amino Acid Metabolism: A Four-Year Pilot Study
20. Comparative analysis of amino acid profiles across pediatric groups stratified by asthma and IgE-dependent allergy showed differences in serum asparagine levels

Sub-Regions

• Amyotrophic Lateral Sclerosis Research — 43 papers
• Metabolism and Genetic Disorders — 29 papers
• Liver Disease Diagnosis and Treatment — 27 papers
• Neurogenetic and Muscular Disorders Research — 18 papers
• Skin and Cellular Biology Research — 15 papers
• Genomics and Rare Diseases — 14 papers