Associated Papers
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
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Mutations in SMARCB1 and in other Coffin-Siris syndrome genes lead to various brain midline defects.
Filatova A et al.
Nature Communications, 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
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
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