Associated Papers
SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.
Kehrer-Sawatzki H et al.
Familial Cancer, 2025
Predicting high-risk clinical missense variants of SMARCB1 in rare neurogenetic disorder schwannomatosis (nerve tumor) through sequence, structure, and molecular dynamics analyses.
Patel M et al.
Neurogenetics, 2025
A novel mutation in SMARCB1 associated with adult Coffin-Siris syndrome and meningioma.
Guo Z et al.
Acta Biochimica Et Biophysica Sinica, 2024
39563460 (PubMed )
Supplement: Table_S1.case_details.xlsx › Sheet1
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S et al.
Hgg Advances, 2024
Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.
Schmetz A et al.
Human Genetics, 2024
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Diagnostic approach with genetic tests for global developmental delay and/or intellectual disability: Single tertiary center experience.
Han JY et al.
Annals of Human Genetics, 2019
Targeted Next-Generation Sequencing of Korean Patients With Developmental Delay and/or Intellectual Disability.
Han JY et al.
Frontiers in Pediatrics, 2018
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