Associated Papers
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
37500730 (PubMed )
Supplement: 41588_2023_1451_MOESM2_ESM.xlsx › SuppTable1Copied_230419
Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a Germline SMARCE1 Mutation: A Case Report.
Lin B et al.
Journal of Pediatric Hematology/oncology, 2020
Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients.
Sekiguchi F et al.
Journal of Human Genetics, 2019
New SMARCE1 variant in a patient with features overlapping with oculoauriculofrontonasal syndrome.
Yano S et al.
Clinical Genetics, 2018
Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders.
Sokpor G et al.
Frontiers in Molecular Neuroscience, 2017
SMARCE1, a rare cause of Coffin-Siris Syndrome: Clinical description of three additional cases.
Zarate YA et al.
American Journal of Medical Genetics. Part A, 2016
Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
Kosho T et al.
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 2014
Creating a neural specific chromatin landscape by npBAF and nBAF complexes.
Staahl BT et al.
Current Opinion in Neurobiology, 2013
Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients.
Santen GW et al.
Human Mutation, 2013
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