Associated Papers
Concordance of Genomic Alterations in Ovarian Cancer Tissues and Circulating-Tumor DNA: A Pilot Study.
Kang B et al.
International Journal of Molecular Sciences, 2026
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
Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.
Cheng SSW et al.
Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025
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
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Sudnawa KK et al.
Clinical Genetics, 2024
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L et al.
Clinical Genetics, 2023
From Feeding Challenges to Oral-Motor Dyspraxia: A Comprehensive Description of 10 New Cases with CTNNB1 Syndrome.
Onesimo R et al.
Genes, 2023
Startle Disease: An Overlooked Symptom of CTNNB1-Related Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects.
Bulot V et al.
Neurology. Genetics, 2022
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
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
Germline Mutations in CTNNB1 Associated With Syndromic FEVR or Norrie Disease.
Sun W et al.
Investigative Ophthalmology & Visual Science, 2019
GABBR2 mutations determine phenotype in rett syndrome and epileptic encephalopathy.
Yoo Y et al.
Annals of Neurology, 2017
Utility of Fluorescein Angiography for Early Detection of Familial Exudative Vitreoretinopathy in Neurodevelopmental Disorder With Spastic Diplegia and Visual Defects Due to CTNNB1 Variants.
Requejo Figueroa GA et al.
Journal of Pediatric Ophthalmology and Strabismus, 0