Associated Papers
Multi-omics in MECP2 duplication syndrome patients and carriers.
Pascual-Alonso A et al.
The European Journal of Neuroscience, 2024
38746988 (PubMed )
Supplement: supplement_1.xlsx › detailed_full_cohort
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
Identification of molecular signatures and pathways involved in Rett syndrome using a multi-omics approach.
Pascual-Alonso A et al.
Human Genomics, 2023
37710353 (PubMed )
Supplement: 40246_2023_532_MOESM4_ESM.xlsx › patient_cohort
UBE2A-related X-linked intellectual disability.
Stevenson RE et al.
Clinical Dysmorphology, 2019
Evaluation of performance of leading algorithms for variant pathogenicity predictions and designing a combinatory predictor method: application to Rett syndrome variants.
Ganakammal SR et al.
Peerj, 2019
31799076 (PubMed )
Supplement: peerj-07-8106-s001.xlsx › RETT_syndrome_reclassification_
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
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