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Exome sequencing expands the mechanism of SOX5-associated intellectual disability: A case presentation with review of sox-related disorders.
Am J Med Genet A. 2015 Nov;167A(11):2548-54. doi: 10.1002/ajmg.a.37221. Epub 2015 Jun 25.
Am J Med Genet A. 2015.
PMID: 26111154
Review.
Molecular Diagnostic Outcomes from 700 Cases: What Can We Learn from a Retrospective Analysis of Clinical Exome Sequencing?
Murrell JR, Nesbitt AMI, Baker SW, Pechter KB, Balciuniene J, Zhao X, Denenberg EH, DeChene ET, Wu C, Jayaraman P, Cao K, Gonzalez M, Devoto M, Testori A, Monos JD, Dulik MC, Conlin LK, Luo M, McDonald Gibson K, Guan Q, Sarmady M, Bhoj E, Helbig I, Zackai EH, Bedoukian EC, Wilkens A, Tarpinian J, Izumi K, Skraban CM, Deardorff MA, Medne L, Krantz ID, Krock BL, Santani AB.
Murrell JR, et al. Among authors: mcdonald gibson k.
J Mol Diagn. 2022 Mar;24(3):274-286. doi: 10.1016/j.jmoldx.2021.12.002. Epub 2022 Jan 19.
J Mol Diagn. 2022.
PMID: 35065284
Free PMC article.
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Navigating highly homologous genes in a molecular diagnostic setting: a resource for clinical next-generation sequencing.
Mandelker D, Schmidt RJ, Ankala A, McDonald Gibson K, Bowser M, Sharma H, Duffy E, Hegde M, Santani A, Lebo M, Funke B.
Mandelker D, et al. Among authors: mcdonald gibson k.
Genet Med. 2016 Dec;18(12):1282-1289. doi: 10.1038/gim.2016.58. Epub 2016 May 26.
Genet Med. 2016.
PMID: 27228465
Free article.
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