Associated Papers
Revealing function-altering MECP2 mutations in individuals with autism spectrum disorder using yeast and Drosophila.
Chen E et al.
Genetics, 2025
Customized targeted massively parallel sequencing enables the identification of novel pathogenic variants in Tunisian patients with developmental and epileptic encephalopathy.
Ben Said M et al.
Epilepsia Open, 2024
A Comprehensive Study of De Novo Mutations on the Protein-Protein Interaction Interfaces Provides New Insights into Developmental Delay.
Maharjan DT et al.
Biomolecules, 2022
36358993 (PubMed )
Supplement: biomolecules-12-01643-s001.zip › Supplemental_Table_S2____PsychiPPI_in_developmental_delay.xlsx › Sheet1
Mosaicism of common pathogenic MECP2 variants identified in two males with a clinical diagnosis of Rett syndrome.
Cooley Coleman JA et al.
American Journal of Medical Genetics. Part A, 2022
MECP2-related conditions in males: A systematic literature review and 8 additional cases.
Inuzuka LM et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2021
A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.
van der Weijden MCM et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2021
33200438 (PubMed )
Supplement: MDS-36-729-s002.docx
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
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