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Development and characterization of reference materials for MTHFR, SERPINA1, RET, BRCA1, and BRCA2 genetic testing.
Barker SD, Bale S, Booker J, Buller A, Das S, Friedman K, Godwin AK, Grody WW, Highsmith E, Kant JA, Lyon E, Mao R, Monaghan KG, Payne DA, Pratt VM, Schrijver I, Shrimpton AE, Spector E, Telatar M, Toji L, Weck K, Zehnbauer B, Kalman LV. Barker SD, et al. Among authors: bale s. J Mol Diagn. 2009 Nov;11(6):553-61. doi: 10.2353/jmoldx.2009.090078. Epub 2009 Sep 18. J Mol Diagn. 2009. PMID: 19767587 Free PMC article.
Reporting incidental findings in genomic scale clinical sequencing--a clinical laboratory perspective: a report of the Association for Molecular Pathology.
Hegde M, Bale S, Bayrak-Toydemir P, Gibson J, Jeng LJ, Joseph L, Laser J, Lubin IM, Miller CE, Ross LF, Rothberg PG, Tanner AK, Vitazka P, Mao R. Hegde M, et al. Among authors: bale s. J Mol Diagn. 2015 Mar;17(2):107-17. doi: 10.1016/j.jmoldx.2014.10.004. Epub 2015 Feb 12. J Mol Diagn. 2015. PMID: 25684271 Free PMC article.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Richards S, et al. Among authors: bale s. Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5. Genet Med. 2015. PMID: 25741868 Free PMC article.
Response to Biesecker and Harrison.
Richards CS, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG/AMP Interpretation of Sequence Variants Work Group 2015. Richards CS, et al. Among authors: bale s. Genet Med. 2018 Dec;20(12):1689-1690. doi: 10.1038/gim.2018.43. Genet Med. 2018. PMID: 29543230 Free article. No abstract available.
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.
Kaul KL, Sabatini LM, Tsongalis GJ, Caliendo AM, Olsen RJ, Ashwood ER, Bale S, Benirschke R, Carlow D, Funke BH, Grody WW, Hayden RT, Hegde M, Lyon E, Murata K, Pessin M, Press RD, Thomson RB. Kaul KL, et al. Among authors: bale s. Acad Pathol. 2017 Jul 16;4:2374289517708309. doi: 10.1177/2374289517708309. eCollection 2017 Jan-Dec. Acad Pathol. 2017. PMID: 28815200 Free PMC article.
ACMG clinical laboratory standards for next-generation sequencing.
Rehm HL, Bale SJ, Bayrak-Toydemir P, Berg JS, Brown KK, Deignan JL, Friez MJ, Funke BH, Hegde MR, Lyon E; Working Group of the American College of Medical Genetics and Genomics Laboratory Quality Assurance Commitee. Rehm HL, et al. Among authors: bale sj. Genet Med. 2013 Sep;15(9):733-47. doi: 10.1038/gim.2013.92. Epub 2013 Jul 25. Genet Med. 2013. PMID: 23887774 Free PMC article.
401 results