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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

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참고문헌 (10)

  1. Tsurusaki Y, "Mutations affecting components of the SWI", SNF complex cause Coffin-Siris syndrome, 2012, pp.44, 376~378
  2. Sekiguchi F, "Genetic abnormalities in a large cohort of Coffin-Siris syndrome patients", J Hum Genet, 64, pp.1173~1186 (2019)
  3. Santen GW, "Coffin-Siris syndrome and the BAF complex: genotype-phenotype study in 63 patients", Hum Mutat, 34, pp.1519~1528 (2013)
  4. Martínez F, "High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing", J Med Genet, 54, pp.87~92 (2017)
  5. Dillon OJ, "Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders", Eur J Hum Genet, 26, pp.644~651 (2018)
  6. Wieczorek D, "A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling", Hum Mol Genet, 22, pp.5121~5135 (2013)
  7. Farwell KD, "Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions", Genet Med, 17, pp.578~586 (2015)
  8. Kwak KJ, "Korean-Wechsler Intelligence Scale for Children", pp.11~13 (2011), Hakjisa
  9. Richards S, "Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology", Genet Med, 17, pp.405~424 (2015)
  10. Karbassi I, "A standardized DNA variant scoring system for pathogenicity assessments in mendelian disorders", Hum Mutat, 37, pp.127~134 (2016)

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