Associated Papers
Rapid Whole Genome Sequencing Uncovers a Triple Diagnosis: X-Linked Chondrodysplasia Punctata, MECP2-Related Disorder, and Mosaic Jacobs Syndrome.
Samuels M et al.
Molecular Genetics & Genomic Medicine, 2025
Establishment and validation of a phenotype-driven predictive model for the diagnostic efficacy of trio-based whole exome sequencing (trio-WES) in children with genetic neurodevelopmental disorders (g-NDDs).
Wu R et al.
Frontiers in Neurology, 2025
41170324 (PubMed )
Supplement: Data_Sheet_3.XLS › NDD-NPDs
Genomic analysis in Chilean patients with suspected Rett syndrome: keep a broad differential diagnosis.
Brito F et al.
Frontiers in Genetics, 2024
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications.
Krygier M et al.
Frontiers in Genetics, 2023
Variation spectrum of MECP2 in Korean patients with Rett and Rett-like syndrome: a literature review and reevaluation of variants based on the ClinGen guideline.
Kim JA et al.
Journal of Human Genetics, 2022
Evaluating variants classified as pathogenic in ClinVar in the DDD Study.
Wright CF et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021
33149276 (PubMed )
Supplement: 41436_2020_1021_MOESM1_ESM.xlsx › SuppTable1_Reported
Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia.
Mojarad BA et al.
Translational Psychiatry, 2021
Targeted re-sequencing for early diagnosis of genetic causes of childhood epilepsy: the Italian experience from the 'beyond epilepsy' project.
Amadori E et al.
Italian Journal of Pediatrics, 2020
Atypical Rett syndrome in a girl with mosaic triple X and MECP2 variant.
Takahashi S et al.
Molecular Genetics & Genomic Medicine, 2020
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
Maortua H et al.
The Journal of Molecular Diagnostics : Jmd, 2013
Detection of rarely identified multiple mutations in MECP2 gene do not contribute to enhanced severity in Rett syndrome.
Chapleau CA et al.
American Journal of Medical Genetics. Part A, 2013
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