| 1 | ARID1A, CSSA1A, CSSSB1, CSSSCA2, CSSSCA4, CSSSCE1, SMARCA4, SMARCB1, SMARCE1
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| Genotype-phenotype correlation of Coffin-Siris syndrome caused by mutations in SMARCB1, SMARCA4, SMARCE1, and ARID1A.
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| Kosho T, Okamoto N; Coffin-Siris Syndrome International Collaborators.
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| Am J Med Genet C Semin Med Genet m J Med Genet C Semin Med Genet. 2014 Aug 28. doi: 10.1002/ajmg.c.31407. [Epub ahead of print]
2014
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| 2 | ARID1A, ARID1B, CSS, CSSSA1A, CSSSA1B, CSSSB1, CSSSCA2, CSSSCA4, CSSSCE1, SMARCA2, SMARCA4, SMARCB1, SMARCE1
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| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome.
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| Tsurusaki Y, Okamoto N, Ohashi H, Kosho T, Imai Y, Hibi-Ko Y, Kaname T, Naritomi K, Kawame H, Wakui K, Fukushima Y, Homma T, Kato M, Hiraki Y, Yamagata T, Yano S, Mizuno S, Sakazume S, Ishii T, Nagai T, Shiina M, Ogata K, Ohta T, Niikawa N, Miyatake S, Okada I, Mizuguchi T, Doi H, Saitsu H, Miyake N, Matsumoto N.
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| Nat Genet at Genet. 2012 Mar 18. doi: 10.1038/ng.2219. [Epub ahead of print] 2012
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| 3 | CSS, CSS1A, CSS1B, CSSSB1, CSSSCA2, CSSSCA4, CSSSCE1
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| The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.
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| Schrier SA, Bodurtha JN, Burton B, Chudley AE, Chiong MA, D'avanzo MG, Lynch SA, Musio A, Nyazov DM, Sanchez-Lara PA, Shalev SA, Deardorff MA.
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| Am J Med Genet A 158A(8):1865-76. doi: 10.1002/ajmg.a.35415. Epub 2012 Jun 18.
2012
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