Publications

2016

  • Alkorta-Aranburu G, Sukhanova M, Carmody D, Hoffman T, Wysinger L, Keller-Ramey J, Li Z, Johnson AK, Kobiernicki F, Botes S, Fitzpatrick C, Das S, Del Gaudio D.  “Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach.”  J Pediatr Endocrinol Metab. 2016 May 1;29(5):523-31
  • Choudhury, NJ, Campanile A, Antic T, Yap KL, Fitzpatrick C, Wade III JL, Karrison T, Stadler W, Nakamura Y, O’Donnel, PH.  “Afatinib activity in platinum-refractory metastatic urothelial carcinoma in patients with ERBB alterations.”  J Clin Oncol 2016 Jun 20;34(18):2165-71.
  • Lan TH, Ramey JK, Fitzpatrick C, Kadri S, Taxy J, Segal J, Furtado L, Antic T.  “Chromosome eight monosomy renal cell carcinoma with tubulopapillary architecture and clear cell phenotype:  a new kid on the block.”  Virchows Arch 2016 Jul;469(1):81-91.
  • Sabah Kadri, Bradley C. Long, Ibro Mujacic, Chao Jie Zhen, Michelle N. Wurst, Shruti Sharma, Nadia MacDonald, Nifang Niu, Jigyasa Tuteja, Tanguy Seiwert, Kevin White, Megan McNerney, Carrie Fitzpatrick, Y. Lynn Wang, Larissa V. Furtado, Jeremy Segal  “UCM-OncoPlus: Clinical Validation of a Large-Scale Capture-Based Genomic Oncology Panel via Cross-Platform Comparison with Validated Amplicon NGS Assays.”   J Mol Diagn (manuscript submitted 3/2016)

2014

  • Cheng YW, Tan CA, Minor A, Arndt K, Wysinger L, Grange DK, Kozel B, Robin NH, Waggoner D, Fitzpatrick C, Das S, del Gaudio D. 2014  “Copy number analysis of NIPBL in a cohort of 510 patients reveals exonic deletions/duplications and a mosaic mutation.”   Mol Genet Genomic Med 2(2):115-23.  

2012

  • Amburgey K, Lawlor MW, Del Gaudio D, Cheng YW, Fitzpatrick C, Minor A, Li X, Aughton D, Das S, Beggs AH, Dowling JJ. 2012.  “Large duplication in MTM1 associated with myotubular myopathy.”  Neuromuscular Disorders 23(3):214-8.  

2011

  • Jennings LJ, Uy M, Fitzpatrick C, Smith FA, "Validation of multiplex ligation-dependent probe amplification for confirmation of array comparative genomic hybridization"  Diagn Mol Pathol 2011 Sep;20(3):166-74.

2006

  • Andrew J. Sharp, Sierra Hansen, Ze Cheng, Rebecca Selzer, Regina Regan, Cheryl Guiver, Carrie Fitzpatrick, Rick Segraves, Jane A. Hurst, Edward Blair, Raoul F Hennekam, Peggy Eis, Stuart Schwartz, Donna G. Albertson, Daniel Pinkel, Samantha JL Knight, and Evan Eichler, “Discovery of Novel Genomic Disorders from the Duplication Architecture of the Human Genome” Nat Genet 2006 Sep;38(9):1038-42.

2002

  • C.A. Fitzpatrick, N. Sharkov, Gary Ramsay and Alisa Katzen, “Drosophila myb exerts opposing effects on S phase, promoting proliferation and suppressing endoreduplication”  Development 2002 Oct; 129 (19) 4497 – 507.