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• Update on Kleefstra Syndrome.

  Willemsen MH, Vulto-van Silfhout AT, Nillesen WM, Wissink-Lindhout WM, van Bokhoven H, Philip N, Berry-Kravis EM, Kini U, van Ravenswaaij-Arts CM, Delle Chiaie B, Innes AM, Houge G, Kosonen T, Cremer K, Fannemel M, Stray-Pedersen A, Reardon W, Ignatius J, Lachlan K, Mircher C, Helderman van den Enden PT, Mastebroek M, Cohn-Hokke PE, Yntema HG, Drunat S, Kleefstra T. Willemsen MH, et al. Mol Syndromol. 2012 Apr;2(3-5):202-212. doi: 10.1159/000335648. Epub 2012 Jan 24. Mol Syndromol. 2012. PMID: 22670141 Free PMC article.
• Clinical use of array comparative genomic hybridization (aCGH) for prenatal diagnosis in 300 cases.

  Van den Veyver IB, Patel A, Shaw CA, Pursley AN, Kang SH, Simovich MJ, Ward PA, Darilek S, Johnson A, Neill SE, Bi W, White LD, Eng CM, Lupski JR, Cheung SW, Beaudet AL. Van den Veyver IB, et al. Prenat Diagn. 2009 Jan;29(1):29-39. doi: 10.1002/pd.2127. Prenat Diagn. 2009. PMID: 19012303 Free PMC article.
• Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome.

  Kleefstra T, Smidt M, Banning MJ, Oudakker AR, Van Esch H, de Brouwer AP, Nillesen W, Sistermans EA, Hamel BC, de Bruijn D, Fryns JP, Yntema HG, Brunner HG, de Vries BB, van Bokhoven H. Kleefstra T, et al. J Med Genet. 2005 Apr;42(4):299-306. doi: 10.1136/jmg.2004.028464. J Med Genet. 2005. PMID: 15805155 Free PMC article.
• Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.

  Kleefstra T, Brunner HG, Amiel J, Oudakker AR, Nillesen WM, Magee A, Geneviève D, Cormier-Daire V, van Esch H, Fryns JP, Hamel BC, Sistermans EA, de Vries BB, van Bokhoven H. Kleefstra T, et al. Am J Hum Genet. 2006 Aug;79(2):370-7. doi: 10.1086/505693. Epub 2006 Jun 13. Am J Hum Genet. 2006. PMID: 16826528 Free PMC article.
• Comparative yield of molecular diagnostic algorithms for autism spectrum disorder diagnosis in India: evidence supporting whole exome sequencing as first tier test.

  Sheth F, Shah J, Jain D, Shah S, Patel H, Patel K, Solanki DI, Iyer AS, Menghani B, Mhatre P, Mehta S, Bajaj S, Patel V, Pandya M, Dhami D, Patel D, Sheth J, Sheth H. Sheth F, et al. BMC Neurol. 2023 Aug 5;23(1):292. doi: 10.1186/s12883-023-03341-0. BMC Neurol. 2023. PMID: 37543562 Free PMC article.