Zollino M et al . Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients. J Med Genet. 2015 Dec;52(12):804-14. doi:10.1136/jmedgenet-2015-103184. Epub 2015 Sep 30. PubMed PMID: 26424144.
Koolen DA et al. The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant. Eur J Hum Genet. 2016;24(5):652-9. doi: 10.1038/ejhg.2015.178. Epub 2015 Aug 26. PubMed PMID: 26306646.
Zollino M et al. Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype. Nat Genet. 2012;44(6):636-8. doi: 10.1038/ng.2257. PubMed PMID: 22544367.
Koolen DA et al. Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome. Nat Genet. 2012;44(6):639-41. doi: 10.1038/ng.2262. PubMed PMID: 22544363.
Itsara A et al. Resolving the breakpoints of the 17q21.31 microdeletion syndrome with next-generation sequencing. Am J Hum Genet. 2012;90(4):599-613. doi: 10.1016/j.ajhg.2012.02.013. PubMed PMID: 22482802; PubMed Central PMCID: PMC3322237.
Koolen DA et al. Two families with sibling recurrence of the 17q21.31 microdeletion syndrome due to low-grade mosaicism. Eur J Hum Genet. 2012 Jul;20(7):729-33. doi: 10.1038/ejhg.2012.1. Epub 2012 Feb 1. PubMed PMID: 22293690; PubMed Central PMCID: PMC3376266.
Dubourg C et al. Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet. 2011;54(2):144-51. doi: 10.1016/j.ejmg.2010.11.003. Epub 2010 Nov 20. PubMed PMID: 21094706.
Sharkey FH et al. 17q21.31 microdeletion syndrome: further expanding the clinical phenotype. Cytogenet Genome Res. 2009;127(1):61-6. doi: 10.1159/000279260. Epub 2010 Jan 27. PubMed PMID: 20110647.
Tan TY et al. Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome. J Med Genet. 2009;46(7):480-9. doi: 10.1136/jmg.2008.065391. Epub 2009 May 15. Erratum in: J Med Genet. 2009 Aug;46(8):576. Bruno, Damien [added]. PubMed PMID: 19447831.
Zody MC et al. Evolutionary toggling of the MAPT 17q21.31 inversion region. Nat Genet. 2008;40(9):1076-83. doi: 10.1038/ng.193. PubMed PMID: 19165922; PubMed Central PMCID: PMC2684794.
Pennisi E. Genetics. 17q21.31: not your average genomic address. Science. 2008;322(5903):842-5. doi: 10.1126/science.322.5903.842. PubMed PMID: 18988819.
Koolen DA et al. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008 Nov;45(11):710-20. doi: 10.1136/jmg.2008.058701. Epub 2008 Jul 15. Erratum in: J Med Genet. 2009;46(8):576. PubMed PMID: 18628315; PubMed Central PMCID: PMC3071570.
Koolen DA et al. A new chromosome 17q21.31 microdeletion syndrome associated with a common inversion polymorphism. Nat Genet. 2006;38(9):999-1001. Epub 2006 Aug 13. PubMed PMID: 16906164.
Shaw-Smith C et al. Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability. Nat Genet. 2006;38(9):1032-7. Epub 2006 Aug 13. PubMed PMID: 16906163.
Sharp AJ et al. Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome. Nat Genet. 2006;38(9):1038-42. Epub 2006 Aug 13. PubMed PMID: 16906162.
Varela MC et al. A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient. Cytogenet Genome Res. 2006;114(1):89-92. PubMed PMID: 16717456.