Associated Papers
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder.
Srinath S et al.
International Journal of Developmental Neuroscience : the Official Journal of the International Society for Developmental Neuroscience, 2025
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
Martins Custodio H et al.
Brain : a Journal of Neurology, 2023
37006128 (PubMed )
Supplement: awad111_supplementary_data.zip › brain-2022-01408-File013.xlsx › Sheet_1
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 › S_36R
Autism Spectrum Disorder and miRNA: An Overview of Experimental Models.
Schepici G et al.
Brain Sciences, 2019
Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Guo H et al.
Molecular Autism, 2018
30564305 (PubMed )
Supplement: 13229_2018_247_MOESM7_ESM.xlsx › all_validated_DNMs
MECP2, a gene associated with Rett syndrome in humans, shows conserved coding regions, independent Alu insertions, and a novel transcript across primate evolution.
Viana MC et al.
Bmc Genetics, 2015
The expanding role of MBD genes in autism: identification of a MECP2 duplication and novel alterations in MBD5, MBD6, and SETDB1.
Cukier HN et al.
Autism Research : Official Journal of the International Society for Autism Research, 2012
Molecular diagnostic dilemmas in Rett syndrome.
Zvereff V et al.
Brain & Development, 2012
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