Associated Papers
Clinical whole genome sequencing in pediatric epilepsy: Genetic and phenotypic spectrum of 733 individuals.
Henry OJ et al.
Epilepsia, 2025
40183601 (PubMed )
Supplement: EPI-66-2966-s001.xlsx › supplementary_table9_v2.01
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H et al.
Genome Medicine, 2021
33726816 (PubMed )
Supplement: 13073_2021_855_MOESM3_ESM.xlsx › Reported_genes_and_variants
Sphingolipid Metabolism Perturbations in Rett Syndrome.
Cappuccio G et al.
Metabolites, 2019
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.
Vidal S et al.
Scientific Reports, 2017
28947817 (PubMed )
Supplement: 41598_2017_11620_MOESM1_ESM.pdf
Phenotype Differentiation of FOXG1 and MECP2 Disorders: A New Method for Characterization of Developmental Encephalopathies.
Ma M et al.
The Journal of Pediatrics, 2016
Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update.
Philippe C et al.
European Journal of Medical Genetics, 0
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