Associated Papers
Genetic Testing in Patients with Neurodevelopmental Disorders: Experience of 511 Patients at Cincinnati Children's Hospital Medical Center.
Du X et al.
Journal of Autism and Developmental Disorders, 2022
Suppressor mutations in Mecp2-null mice implicate the DNA damage response in Rett syndrome pathology.
Enikanolaiye A et al.
Genome Research, 2020
32317254 (PubMed )
Supplement: supp_gr.258400.119_Supplemental_Table_S1_.xlsx › J_157N
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_
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
MECP2 mutations in sporadic cases of Rett syndrome are almost exclusively of paternal origin.
Trappe R et al.
American Journal of Human Genetics, 2001
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