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Consensus characterization of 16 FMR1 reference materials: a consortium study.
Amos Wilson J, Pratt VM, Phansalkar A, Muralidharan K, Highsmith WE Jr, Beck JC, Bridgeman S, Courtney EM, Epp L, Ferreira-Gonzalez A, Hjelm NL, Holtegaard LM, Jama MA, Jakupciak JP, Johnson MA, Labrousse P, Lyon E, Prior TW, Richards CS, Richie KL, Roa BB, Rohlfs EM, Sellers T, Sherman SL, Siegrist KA, Silverman LM, Wiszniewska J, Kalman LV; Fragile Xperts Working Group of the Association for Molecular Pathology Clinical Practice Committee. Amos Wilson J, et al. J Mol Diagn. 2008 Jan;10(1):2-12. doi: 10.2353/jmoldx.2008.070105. Epub 2007 Dec 28. J Mol Diagn. 2008. PMID: 18165276 Free PMC article.
A positive modifier of spinal muscular atrophy in the SMN2 gene.
Prior TW, Krainer AR, Hua Y, Swoboda KJ, Snyder PC, Bridgeman SJ, Burghes AH, Kissel JT. Prior TW, et al. Among authors: bridgeman sj. Am J Hum Genet. 2009 Sep;85(3):408-13. doi: 10.1016/j.ajhg.2009.08.002. Epub 2009 Aug 27. Am J Hum Genet. 2009. PMID: 19716110 Free PMC article.
Identifying mutations for MYH-associated polyposis.
Prior TW, Bridgeman SJ. Prior TW, et al. Among authors: bridgeman sj. Curr Protoc Hum Genet. 2010 Jan;Chapter 10:Unit 10.13. doi: 10.1002/0471142905.hg1013s64. Curr Protoc Hum Genet. 2010. PMID: 20063264