Associated Papers
Diurnal variation in autonomic regulation among patients with genotyped Rett syndrome.
Carroll MS et al.
Journal of Medical Genetics, 2020
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 › M_333R
Genomic mosaicism in the pathogenesis and inheritance of a Rett syndrome cohort.
Zhang Q et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30405208 (PubMed )
Supplement: 41436_2018_348_MOESM3_ESM.xlsx › Sheet1
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_
Molecular diagnostic dilemmas in Rett syndrome.
Zvereff V et al.
Brain & Development, 2012
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