Associated Papers
Integrated analysis of canine soft tissue sarcomas identifies recurrent mutations in TP53, KMT genes and PDGFB fusions.
Das S et al.
Scientific Reports, 2023
37369741 (PubMed )
Supplement: 41598_2023_37266_MOESM2_ESM.xlsx › Table_S5
Recommending revised hepatoblastoma surveillance in children with a pathogenic ARID1A variant. Reply to "Cancer in ARID1A-Coffin-Siris syndrome: Review and report of a child with hepatoblastoma" by Cárcamo et al. 2022.
van der Sluijs PJ et al.
European Journal of Medical Genetics, 2023
Coffin-Siris syndrome and cancer susceptibility.
Borja NA et al.
Genetics in Medicine Open, 2023
Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.
Bastos-Oreiro M et al.
Scientific Reports, 2021
A Novel De Novo Heterozygous ARID1A Missense Variant Cluster in cis c.[5954C>G;6314C>T;6334C>T;6843G>C] causes a Coffin-Siris Syndrome.
Lee CG et al.
Annals of Laboratory Medicine, 2021
Clonal relationship and directionality of progression of synchronous endometrial and ovarian carcinomas in patients with DNA mismatch repair-deficiency associated syndromes.
Moukarzel LA et al.
Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2021
33328602 (PubMed )
Supplement: NIHMS1642406-supplement-Supplementary_Material.pdf
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
Coffin-Siris syndrome is a SWI/SNF complex disorder.
Tsurusaki Y et al.
Clinical Genetics, 2014
Creating a neural specific chromatin landscape by npBAF and nBAF complexes.
Staahl BT et al.
Current Opinion in Neurobiology, 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
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
Tsurusaki Y et al.
Nature Genetics, 2012
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