Associated Papers
Mutational scanning reveals substrate-assisted autoregulation of the WNT destruction complex.
Padmanarayana M et al.
Biorxiv : the Preprint Server for Biology, 2025
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
Žakelj N et al.
Hgg Advances, 2025
A Robust and Comprehensive Study of the Molecular and Genetic Basis of Neurodevelopmental Delay in a Sample of 3244 Patients, Evaluated by Exome Analysis in a Latin Population.
Lamilla J et al.
Diagnostics (basel, Switzerland), 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Sudnawa KK et al.
Clinical Genetics, 2024
Diagnostic yield and novel candidate genes for neurodevelopmental disorders by exome sequencing in an unselected cohort with microcephaly.
Wang C et al.
Bmc Genomics, 2023
Genetic and clinical characteristics of 24 mainland Chinese patients with CTNNB1 loss-of-function variants.
Yan D et al.
Molecular Genetics & Genomic Medicine, 2022
Correlation between Phenotype and Genotype in CTNNB1 Syndrome: A Systematic Review of the Literature.
Miroševič Š et al.
International Journal of Molecular Sciences, 2022
Sequencing individual genomes with recurrent genomic disorder deletions: an approach to characterize genes for autosomal recessive rare disease traits.
Yuan B et al.
Genome Medicine, 2022
Genome-wide DNA methylation profiling and exome sequencing resolved a long-time misdiagnosed case.
Paparella A et al.
Journal of Human Genetics, 2022
CTNNB1-related neurodevelopmental disorder in a Chinese population: A case series.
Ho S et al.
American Journal of Medical Genetics. Part A, 2022
The extended clinical and genetic spectrum of CTNNB1-related neurodevelopmental disorder.
Lee S et al.
Frontiers in Pediatrics, 2022
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
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.
Wang T et al.
Nature Communications, 2020
Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Dharmadhikari AV et al.
Genome Medicine, 2019
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2019
Mutation analysis of adenomas and carcinomas of the colon: Early and late drivers.
Wolff RK et al.
Genes, Chromosomes & Cancer, 2018
Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay: Case report and literature review.
Li N et al.
Medicine, 2017
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Kuechler A et al.
Human Genetics, 2015
Hereditary diffuse gastric cancer: translation of CDH1 germline mutations into clinical practice.
Guilford P et al.
Gastric Cancer : Official Journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association, 2010