Impact of TP53 mutation variant allele frequency on phenotype and outcomes in myelodysplastic syndromes von Sallman, D A, Komrokji, R, Vaupel, C, Cluzeau, T, Geyer, S M, McGraw, K L, Al Ali, N H, Lancet, J, McGinniss, M J, Nahas, S, Smith, A E, Kulasekararaj, A, Mufti, G, List, A, Hall, J, Padron, E

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PD08-09: PTPN12 Gene Expression Signature in Triple Negative Breast Cancer Cohort von Ghazalpour, A, Bender, RP, McGinniss, MJ, Ashfaq, R

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Novel and recurrent rearrangements in the CFTR gene : clinical and laboratory implications for cystic fibrosis screening von HANTASH, Feras M, REDMAN, Joy B, STARN, Kelsey, ANDERSON, Ben, BULLER, Arlene, MCGINNISS, Matthew J, QUAN, Franklin, MEI PENG, WEIMIN SUN, STROM, Charles M

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Extensive sequencing of the CFTR gene : lessons learned from the first 157 patient samples von MCGINNISS, Matthew J, CHEN, Christina, STROM, Charles M, REDMAN, Joy B, BULLER, Arlene, QUAN, Franklin, MEI PENG, GIUSTI, Robert, HANTASH, Feras M, DONGHUI HUANG, WEIMIN SUN

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CFTR 5T variant has a low penetrance in females that is partially attributable to its haplotype von Sun, Weimin, Anderson, Ben, Redman, Joy, Milunsky, Aubrey, Buller, Arlene, McGinniss, Matthew J, Quan, Franklin, Anguiano, Arturo, Huang, Stephen, Hantash, Feras, Strom, Charles

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Molecular screening for diseases frequent in Ashkenazi Jews: Lessons learned from more than 100,000 tests performed in a commercial laboratory von Strom, Charles M., Crossley, Beryl, Redman, Joy B., Quan, Franklin, Buller, Arlene, McGinniss, Matthew J., Sun, Weimin

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Technology challenges in screening single gene disorders von Braun, Andreas, Roth, Richard, McGinniss, Matthew J

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Technical validation of a multiplex platform to detect thirty mutations in eight genetic diseases prevalent in individuals of Ashkenazi Jewish descent von Strom, Charles M., Janeczko, Richard A., Anderson, Ben, Redman, Joy, Quan, Franklin, Buller, Arlene, McGinniss, Matthew J., Sun, Wei Min

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Detection of 677CT/1298AC “double variant” chromosomes: Implications for interpretation of MTHFR genotyping results von Brown, Nicholas M., Pratt, Victoria M., Buller, Arlene, Pike-Buchanan, Lisa, Redman, Joy B., Sun, Weimin, Chen, Rebecca, Crossley, Beryl, McGinniss, Matthew J., Quan, Franklin, Strom, Charles M.

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Novel and recurrent rearrangements in the CFTR gene: clinical and laboratory implications for cystic fibrosis screening von Hantash, Feras M., Redman, Joy B., Starn, Kelsey, Anderson, Ben, Buller, Arlene, McGinniss, Matthew J., Quan, Franklin, Peng, Mei, Sun, Weimin, Strom, Charles M.

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Diploid/triploid mosaic placenta with fetus: Towards a better understanding of ‘partial moles’ von Zhang, P, McGinniss, M.J, Sawai, S, Benirschke, K

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Molecular Characterization of Severe Hemophilia A Suggests that about Half the Mutations are not within the Coding Regions and Splice Junctions of the Factor VIII Gene von Higuchi, Miyoko, Kazazian, Haig H., Kasch, Laura, Warren, Tina C., McGinniss, Matthew J., Phillips, John A., Kasper, Carol, Janco, Robert, Antonarakis, Stylianos E.

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Eight novel mutations in the HEXA gene von Mcginniss, Matthew J., Brown, David H., Fulwiler, Andrea, Marten, Molly, Lim-Steele, Joyce S.T., Kaback, Michael M.

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Mechanisms of ring chromosome formation in 11 cases of human ring chromosome 21 von McGinniss, M J, Kazazian, Jr, H H, Stetten, G, Petersen, M B, Boman, H, Engel, E, Greenberg, F, Hertz, J M, Johnson, A, Laca, Z

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Refinement of a T-lymphocyte cloning assay to quantify the in vivo thioguanine-resistant mutant frequency in humans von O'Neill, J.P., McGinniss, M.J., Berman, J.K., Sullivan, L.M., Nicklas, J.A., Albertini, R.J.

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Spectrum of Mutations in CRM-Positive and CRM-Reduced Hemophilia A von McGinniss, Matthew J., Kazazian, Haig H., Hoyer, Leon W., Bi, Lei, Inaba, Hiroshi, Antonarakis, Stylianos E.

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Partial molar transformation of the placenta of presumably monozygotic twins von Benirschke, K, Spinosa, J C, McGinniss, M J, Marchevsky, A, Sanchez, J

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Severe Hemophilia A in a Female by Cryptic Translocation: Order and Orientation of Factor VIII within Xq28 von Migeon, Barbara R., McGinniss, Matthew J., Antonarakis, Stylianos E., Axelman, Joyce, Stasiowski, Beth A., Youssoufian, Hagop, Kearns, William G., Chung, Alice, Pearson, Peter L., Kazazian, Haig H., Muneer, Razia S.

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Molecular analyses of in vivo hprt mutations in human t-lymphocytes: IV. Studies in Newborns von McGinniss, Matthew J., Nicklas, Janice A., Albertini, Richard J.

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Phenolics in aquatic ecosystems: A selected review of recent literature von Buikema, Arthur L, McGinniss, Matthew J, Cairns, John

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