Associated Papers
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 2025
41278994 (PubMed )
Supplement: media-1.xlsx › WNT_DC_CBE_Screen
Case report: Discovery of novel CTNNB1 mutations and comparison of clinical characteristics in two patients with NEDSDV.
Lee E et al.
Frontiers in Genetics, 2025
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š et al.
International Journal of Molecular Sciences, 2022
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
Targeted sequencing and integrative analysis to prioritize candidate genes in neurodevelopmental disorders.
Zhang Y et al.
Molecular Neurobiology, 2021
33860439 (PubMed )
Supplement: 12035_2021_2377_MOESM14_ESM.xlsx › NDD_probands__public_
Missense variants in CTNNB1 can be associated with vitreoretinopathy-Seven new cases of CTNNB1-associated neurodevelopmental disorder including a previously unreported retinal phenotype.
Rossetti LZ et al.
Molecular Genetics & Genomic Medicine, 2021
33350591 (PubMed )
Supplement: MGG3-9-e1542-s002.xlsx › All_Patients_in_Literature
Comprehensive next-generation profiling of clonal hematopoiesis in cancer patients using paired tumor-blood sequencing for guiding personalized therapies.
Li Z et al.
Clinical and Translational Medicine, 2020
33252848 (PubMed )
Supplement: CTM2-10-e222-s003.xlsx › Sheet1
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM10_ESM.xlsx › Supplementary_Data_8
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2019
Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals.
Kharbanda M et al.
European Journal of Medical Genetics, 2017
Whole Exome Sequencing Identified two Novel Truncation Mutations in the CTNNB1 Gene Associated with Neurodevelopmental Disorder, Language Dysfunction, and Microcephaly in Chinese Children.
Ji Y et al.
Child Neurology Open, 0
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