Latest Research in Genomics and Rare Diseases
12 research papers · 2026 median publication year
Top Research Topics in Genomics and Rare Diseases
- Genomics and Rare Diseases — 2 papers
- Hereditary Neurological Disorders — 2 papers
- Autoimmune Neurological Disorders and Treatments — 1 papers
- Epilepsy research and treatment — 1 papers
- Amyotrophic Lateral Sclerosis Research — 1 papers
- Genomic variations and chromosomal abnormalities — 1 papers
- Hemophilia Treatment and Research — 1 papers
- RNA regulation and disease — 1 papers
- Growth Hormone and Insulin-like Growth Factors — 1 papers
- Protease and Inhibitor Mechanisms — 1 papers
Highest-Cited Papers
- Neuroradiologic Findings in Patients With S CN2A Disease
- Strengthening the Genetic Evidence for the FLNA c.5776C>T (p.Pro1926Ser) Variant: Comments on Segregation, X-inactivation, and Digenic Considerations
- Report on the 7th Ottawa International Conference on Neuromuscular Disease & Biology – September 11‐13, 2025, Ottawa, Canada
- Clinical and genomic characterization of corpus callosum abnormalities (CCA) in 107 Tunisian patients using a stepwise diagnostic approach
- Comprehensive Genetic Analysis of Hemophilia A in a Chinese Cohort: Insights from Next-Generation and Long-Read Sequencing
- Expanding the Clinical Spectrum of DHX30 ‐Related Neurodevelopmental Disorder: A Case Report and a Scoping Review
- Cognitive impairment as a manifestation of SPG7: case report
- MRI Pattern with a Distinctive Cerebellar Signature in VPS11 -Related Hypomyelinating Leukodystrophy: A Comparative Cohort Study
- Brachydactyly Type A1 Caused by an IHH Variant in a Patient with Disproportionate Short Stature: A Case Report
- PMP22 gene diagnostic testing in Southwest Finland in 2005–2020. An observational, register-based study
- Configuration-Level Genetic Interpretation in Neurodevelopmental Disorders: A Single-Center Cohort of 2162 Children in China
- Heterozygous Variants in LRP1 Cause a Neurodevelopmental Disorder With Congenital Heart Defects