Ferreira-Gonzalez A - Search Results

1

Developing a sustainable process to provide quality control materials for genetic testing.

Chen B, O' Connell CD, Boone DJ, Amos JA, Beck JC, Chan MM, Farkas DH, Lebo RV, Richards CS, Roa BB, Silverman LM, Barton DE, Bejjani BA, Belloni DR, Bernacki SH, Caggana M, Charache P, Dequeker E, Ferreira-Gonzalez A, Friedman KJ, Greene CL, Grody WW, Highsmith WE Jr, Hinkel CS, Kalman LV, Lubin IM, Lyon E, Payne DA, Pratt VM, Rohlfs E, Rundell CA, Schneider E, Willey AM, Williams LO, Willey JC, Winn-Deen ES, Wolff DJ. Chen B, et al. Genet Med. 2005 Oct;7(8):534-49. doi: 10.1097/01.gim.0000183043.94406.81. Genet Med. 2005. PMID: 16247292 Free article.

2

Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.

Lyon E, Schrijver I, Weck KE, Ferreira-Gonzalez A, Richards CS, Palomaki GE; CAP/ACMG Biochemical and Molecular Genetics Committee. Lyon E, et al. Genet Med. 2015 Mar;17(3):219-25. doi: 10.1038/gim.2014.93. Epub 2014 Jul 31. Genet Med. 2015. PMID: 25077647 Free article.

3

Revisiting oversight and regulation of molecular-based laboratory-developed tests: a position statement of the Association for Molecular Pathology.

Ferreira-Gonzalez A, Emmadi R, Day SP, Klees RF, Leib JR, Lyon E, Nowak JA, Pratt VM, Williams MS, Klein RD. Ferreira-Gonzalez A, et al. J Mol Diagn. 2014 Jan;16(1):3-6. doi: 10.1016/j.jmoldx.2013.10.003. J Mol Diagn. 2014. PMID: 24331365 Free article.

4

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.

5

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.

6

The Association for Molecular Pathology's approach to supporting a global agenda to embrace personalized genomic medicine.

AMP Whole Genome Analysis Working Group. AMP Whole Genome Analysis Working Group. J Mol Diagn. 2011 May;13(3):249-51. doi: 10.1016/j.jmoldx.2011.03.001. J Mol Diagn. 2011. PMID: 21497286 Free PMC article. No abstract available.

7

Development and Validation of Targeted Next-Generation Sequencing Panels for Detection of Germline Variants in Inherited Diseases.

Santani A, Murrell J, Funke B, Yu Z, Hegde M, Mao R, Ferreira-Gonzalez A, Voelkerding KV, Weck KE. Santani A, et al. Arch Pathol Lab Med. 2017 Jun;141(6):787-797. doi: 10.5858/arpa.2016-0517-RA. Epub 2017 Mar 21. Arch Pathol Lab Med. 2017. PMID: 28322587 Free article.

8

Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.

Hegde M, Santani A, Mao R, Ferreira-Gonzalez A, Weck KE, Voelkerding KV. Hegde M, et al. Arch Pathol Lab Med. 2017 Jun;141(6):798-805. doi: 10.5858/arpa.2016-0622-RA. Epub 2017 Mar 31. Arch Pathol Lab Med. 2017. PMID: 28362156 Free article.

9

Performance evaluation of two methods using commercially available reagents for PCR-based detection of FMR1 mutation.

Juusola JS, Anderson P, Sabato F, Wilkinson DS, Pandya A, Ferreira-Gonzalez A. Juusola JS, et al. J Mol Diagn. 2012 Sep;14(5):476-86. doi: 10.1016/j.jmoldx.2012.03.005. Epub 2012 Jul 2. J Mol Diagn. 2012. PMID: 22765921 Free article.

10

A simple and rapid genotyping assay for simultaneous detection of two ADRB2 allelic variants using fluorescence resonance energy transfer probes and melting curve analysis.

Sábato MF, Irani AM, Bukaveckas BL, Schwartz LB, Wilkinson DS, Ferreira-Gonzalez A. Sábato MF, et al. J Mol Diagn. 2008 May;10(3):258-64. doi: 10.2353/jmoldx.2008.070133. J Mol Diagn. 2008. PMID: 18440968 Free PMC article.

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