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Spinal muscular atrophy: molecular genetics and diagnostics.
Ogino S, Wilson RB. Ogino S, et al. Expert Rev Mol Diagn. 2004 Jan;4(1):15-29. doi: 10.1586/14737159.4.1.15. Expert Rev Mol Diagn. 2004. PMID: 14711346 Review.
Standard mutation nomenclature in molecular diagnostics: practical and educational challenges.
Ogino S, Gulley ML, den Dunnen JT, Wilson RB; Association for Molecular Patholpogy Training and Education Committtee. Ogino S, et al. J Mol Diagn. 2007 Feb;9(1):1-6. doi: 10.2353/jmoldx.2007.060081. J Mol Diagn. 2007. PMID: 17251329 Free PMC article.
Genetic testing and risk assessment for spinal muscular atrophy (SMA).
Ogino S, Wilson RB. Ogino S, et al. Hum Genet. 2002 Dec;111(6):477-500. doi: 10.1007/s00439-002-0828-x. Epub 2002 Oct 3. Hum Genet. 2002. PMID: 12436240 Review.
SMN dosage analysis and risk assessment for spinal muscular atrophy.
Ogino S, Wilson RB. Ogino S, et al. Am J Hum Genet. 2002 Jun;70(6):1596-8; author reply 1598-9. doi: 10.1086/340789. Am J Hum Genet. 2002. PMID: 11992267 Free PMC article. No abstract available.
Spinal muscular atrophy genetic testing experience at an academic medical center.
Ogino S, Leonard DG, Rennert H, Wilson RB. Ogino S, et al. J Mol Diagn. 2002 Feb;4(1):53-8. doi: 10.1016/S1525-1578(10)60680-0. J Mol Diagn. 2002. PMID: 11826188 Free PMC article.
Comment on SMN2 deletion in childhood-onset spinal muscular atrophy.
Ogino S, Van Deerlin VM, Wilson RB. Ogino S, et al. Am J Med Genet. 2002 May 1;109(3):243-4; author reply 245. doi: 10.1002/ajmg.10277. Am J Med Genet. 2002. PMID: 11977189 No abstract available.
Bayesian analysis for cystic fibrosis risks in prenatal and carrier screening.
Ogino S, Wilson RB, Gold B, Hawley P, Grody WW. Ogino S, et al. Genet Med. 2004 Sep-Oct;6(5):439-49. doi: 10.1097/01.gim.0000139511.83336.8f. Genet Med. 2004. PMID: 15371910
Bayesian analysis and risk assessment in genetic counseling and testing.
Ogino S, Wilson RB. Ogino S, et al. J Mol Diagn. 2004 Feb;6(1):1-9. doi: 10.1016/S1525-1578(10)60484-9. J Mol Diagn. 2004. PMID: 14736820 Free PMC article. Review.
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