Associated Papers
Rapid targeted analysis of the genome: Rapid genomic sequencing in critically ill infants.
Wild KT et al.
Genetics in Medicine Open, 2026
41584744 (PubMed )
Supplement: mmc4.xlsx › Sheet1
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
Diagnostic Utility of Trio-Exome Sequencing for Children With Neurodevelopmental Disorders.
Lan X et al.
Jama Network Open, 2025
40131272 (PubMed )
Supplement: jamanetwopen-e251807-s002.xlsx › eTable1
Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.
Shchubelka K et al.
Journal of Neurodevelopmental Disorders, 2024
38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed
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
Spectrum of MECP2 mutations in Vietnamese patients with RETT syndrome.
Le Thi Thanh H et al.
Bmc Medical Genetics, 2018
Novel double deletions in the MECP2 gene in Tunisian Rett patient.
Fendri-Kriaa N et al.
Gene, 2012
[Correlation between MECP2 genotype and phenotype in Chinese patients with Rett syndrome].
Li MR et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
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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