Latest Research in Genomics and Rare Diseases

Top Research Topics in Genomics and Rare Diseases

• Genomics and Rare Diseases — 5 papers
• Genomic variations and chromosomal abnormalities — 2 papers
• Obsessive-Compulsive Spectrum Disorders — 1 papers
• Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities — 1 papers
• Neurological diseases and metabolism — 1 papers
• Neuroscience and Neuropharmacology Research — 1 papers
• Hereditary Neurological Disorders — 1 papers
• interferon and immune responses — 1 papers
• Liver Disease Diagnosis and Treatment — 1 papers
• Ion Transport and Channel Regulation — 1 papers

Highest-Cited Papers

1. Penetrance, effect and causal attribution: which number should be reported for recurrent copy-number variants?
2. Koolen‐de Vries syndrome: Epilepsy‐associated features in a patient with a novel likely pathogenic KANSL1 single‐nucleotide variant
3. Persistent tic disorders are associated with 17q12 duplications
4. TERNER SINDROMI (45,X)
5. 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
6. Genotype-informed clinical subtyping and treatment landscape of CSNK2B-related Poirier-Bienvenu neurodevelopmental syndrome
7. Recurrent homozygous GLRB p.Arg472Ter variant in Palestinian hereditary hyperekplexia: a retrospective genotype–phenotype case series of nine children
8. Identification of a novel homozygous FRRS1L variant in a Chinese girl with development delay and epilepsy: a case report
9. Identification and splicing assessment of a novel homozygous CFAP65 splice-site variant associated with oligozoospermia and complete asthenozoospermia
10. Genomic Reanalysis of Neurodevelopmental Disorders With and Without Epilepsy: Diagnostic Yield and Mechanisms of Newly Established Diagnoses
11. Trio exome sequencing in patients with global developmental delay and intellectual disability in Rwanda
12. Genomic scale and Clinical genetics: a review of human DNA sequencing data and point mutation
13. Serum miR-378d is associated with liver stiffness and fibrosis risk in patients with metabolic dysfunction-associated steatotic liver disease
14. The undiagnosed rare disease clinic program of Indiana University School of Medicine: lessons learned from the first 100 cases enrolled (Phase-I pilot)
15. Clinical and Genetic Spectrum of ATP1A3 -Related Disorders
16. KCNQ2 p.(Arg214Trp): systematic review with retrospective analysis and expanding the phenotype
17. Identification of Two Rare Variants in SLC2A1 and SMC1A in a Child with Epilepsy and Behavioral Disorders: A Case Report from Côte d’Ivoire