Associated Papers
Landscape of mSWI/SNF chromatin remodeling complex perturbations in neurodevelopmental disorders.
Valencia AM et al.
Nature Genetics, 2023
Evidence for an association between Coffin-Siris syndrome and congenital diaphragmatic hernia.
Gofin Y et al.
American Journal of Medical Genetics. Part A, 2022
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
PEDIA: prioritization of exome data by image analysis.
Hsieh TC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 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
Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y et al.
Clinical Genetics, 2014
NCI-60 whole exome sequencing and pharmacological CellMiner analyses.
Reinhold WC et al.
Plos One, 2014
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Wieczorek D et al.
Human Molecular Genetics, 2013
Creating a neural specific chromatin landscape by npBAF and nBAF complexes.
Staahl BT et al.
Current Opinion in Neurobiology, 2013
The mutational landscape of adenoid cystic carcinoma.
Ho AS et al.
Nature Genetics, 2013
Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature.
Kosho T et al.
American Journal of Medical Genetics. Part A, 2013
Loss-of-function mutations in SMARCE1 cause an inherited disorder of multiple spinal meningiomas.
Smith MJ et al.
Nature Genetics, 2013
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y et al.
Nature Genetics, 2012