Associated Papers
Clinical exome sequencing efficacy and phenotypic expansions involving non-isolated congenital anomalies of kidney and urinary tract (CAKUT+).
Rivera-Munoz EA et al.
European Journal of Human Genetics : Ejhg, 2025
Genotypic, functional, and phenotypic characterization in CTNNB1 neurodevelopmental syndrome.
Žakelj N et al.
Hgg Advances, 2025
The somatic mutation landscape of normal gastric epithelium.
Coorens THH et al.
Nature, 2025
Clinical phenotypic spectrum of CTNNB1 neurodevelopmental disorder.
Sudnawa KK et al.
Clinical Genetics, 2024
EARLY-ONSET OF FAMILIAL EXUDATIVE VITREORETINOPATHY: Clinical Characteristics, Management, and Outcomes.
Kitic N et al.
Retina (philadelphia, Pa.), 2024
Congenital heart defects in CTNNB1 syndrome: Raising clinical awareness.
Sinibaldi L et al.
Clinical Genetics, 2023
Familial Exudative Vitreoretinopathy and Systemic Abnormalities in Patients With CTNNB1 Mutations.
Huang L et al.
Investigative Ophthalmology & Visual Science, 2023
Genomic and phenotypic characterization of 404 individuals with neurodevelopmental disorders caused by CTNNB1 variants.
Kayumi S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 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
Personalized cancer therapy prioritization based on driver alteration co-occurrence patterns.
Mateo L et al.
Genome Medicine, 2020
Analysis on GENIE reveals novel recurrent variants that affect molecular diagnosis of sizable number of cancer patients.
Koyama T et al.
Bmc Cancer, 2019
Somatic mutations in CDH1 and CTNNB1 in primary carcinomas at 13 anatomic sites.
Busch EL et al.
Oncotarget, 2017
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Rossi M et al.
Pediatric Neurology, 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
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
Genotypic Distribution and Clinical Correlations in Familial Exudative Vitreoretinopathy: A Single-Center Study.
Soetikno BT et al.
Ophthalmology Science, 0