Yoshitomi MJ - Search Results

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A comparative study of five technologically diverse CFTR testing platforms.

Johnson MA, Yoshitomi MJ, Richards CS. Johnson MA, et al. Among authors: yoshitomi mj. J Mol Diagn. 2007 Jul;9(3):401-7. doi: 10.2353/jmoldx.2007.060163. J Mol Diagn. 2007. PMID: 17591940 Free PMC article.

Validation of Fanconi anemia complementation Group A assignment using molecular analysis.

Moghrabi NN, Johnson MA, Yoshitomi MJ, Zhu X, Al-Dhalimy MJ, Olson SB, Grompe M, Richards CS. Moghrabi NN, et al. Among authors: yoshitomi mj. Genet Med. 2009 Mar;11(3):183-92. doi: 10.1097/GIM.0b013e318193ba67. Genet Med. 2009. PMID: 19367192 Free article.

Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.

Richards CS, Palomaki GE, Lacbawan FL, Lyon E, Feldman GL; CAP/ACMG Biochemical and Molecular Genetics Resource Committee. Richards CS, et al. Genet Med. 2014 Jan;16(1):25-32. doi: 10.1038/gim.2013.65. Epub 2013 May 23. Genet Med. 2014. PMID: 23703682 Free article.

Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2.

McMilin KD, Reiss JA, Brown MG, Black MH, Buckmaster DA, Durum CT, Gunter KA, Lawce HJ, Berry TL, Lamb OA, Olson CL, Weeks FF, Yoshitomi MJ, Jacky PB, Olson SB, Magenis RE. McMilin KD, et al. Among authors: yoshitomi mj. Am J Med Genet. 1998 Jun 16;78(1):36-43. Am J Med Genet. 1998. PMID: 9637421

Resolution of breakpoints in a complex rearrangement by use of multiple staining techniques: confirmation of suspected 12p12.3 intraband by deletion dosage effect of LDHB.

Magenis E, Brown MG, Chamberlin J, Donlon T, Hepburn D, Lamvik N, Lovrien E, Yoshitomi M. Magenis E, et al. Am J Med Genet. 1981;9(2):95-103. doi: 10.1002/ajmg.1320090203. Am J Med Genet. 1981. PMID: 6167167

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