Efficacy of paired tumor and germline testing in evaluation of patients with Lynch-like syndrome in a large integrated healthcare setting von Carwana, Holly, Hoodfar, Elizabeth, Bergoffen, JoAnn, Li, Dan

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Mutations in transcriptional regulator ATRX establish the functional significance of a PHD-like domain von Gibbons, Richard J, Bachoo, Satvinder, Picketts, David J, Aftimos, Salim, Asenbauer, Bernhard, Bergoffen, JoAnn, Berry, Susan A, Dahl, Niklas, Fryer, Alan, Keppler, Kim, Kurosawa, Kenji, Levin, Michael L, Masuno, Mitsuo, Neri, Giovanni, Pierpont, Mary Ella, Slaney, Sarah F, Higgs, Douglas R

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1069 - Age as a Determinant of Lynch Syndrome Screening Performance Using Colorectal Cancer Immunohistochemistry in a Large Population-Based Program in the United States von Li, Dan, Hoodfar, Elizabeth, Jiang, Sheng-fang, Udaltsova, Natalia, Pham, Nhung P., Jodesty, Yves, Baker, Robin J., Armstrong, Mary Anne, Hung, Yun-Yi, Postlethwaite, Debbie, Ladabaum, Uri, Levin, Theodore R., Corley, Douglas A., Bergoffen, JoAnn

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Functional assessment of variants in the TSC1 and TSC2 genes identified in individuals with Tuberous Sclerosis Complex von Hoogeveen-Westerveld, Marianne, Wentink, Marjolein, van den Heuvel, Diana, Mozaffari, Melika, Ekong, Rosemary, Povey, Sue, den Dunnen, Johan T., Metcalfe, Kay, Vallee, Stephanie, Krueger, Stefan, Bergoffen, JoAnn, Shashi, Vandana, Elmslie, Frances, Kwiatkowski, David, Sampson, Julian, Vidales, Concha, Dzarir, Jacinta, Garcia-Planells, Javier, Dies, Kira, Maat-Kievit, Anneke, van den Ouweland, Ans, Halley, Dicky, Nellist, Mark

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Improving detection of Lynch syndrome using a reflex immunohistochemistry algorithm for all patients with newly diagnosed colorectal cancer von Pan, Minggui, Hoodfar, Elizabeth, Bergoffen, JoAnn, Fulton, Regan, Hofmeister, Laura, Chavez, Annette, Li, Dan

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Clinical and molecular characterization of patients with distal 11q deletions von PENNY, L. A, DELL'AQUILA, M, SYME, J, VOULLAIRE, L, ZELANTE, L, ZENGER-HAIN, J, JONES, O. W, EVANS, G. A, JONES, M. C, BERGOFFEN, J, CUNNIFF, C, FRYNS, J.-P, GRACE, E, GRAHAM, J. M, KOUSSEFF, B, MATTINA, T

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Hereditary nonpolyposis colorectal cancer in young colorectal cancer patients: High-risk clinic versus population-based registry von Terdiman, Jonathan P., Levin, Theodore R., Allen, Brian A., Gum, James R., Fishbach, Andrea, Conrad, Peggy G., Miller, Glenn A., Weinberg, Vivian, Bachman, Ronald, Bergoffen, Joann, Stembridge, Ann, Toribara, Neil W., Sleisenger, Marvin H., Kim, Young S.

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Human Muscle Acetylcholine Receptor Alpha-subunit Gene (CHRNA1) Association with Autoimmune Myasthenia Gravis in Black, Mixed-Ancestry and Caucasian Subjects von Heckmann, Jeannine M., Morrison, Karen E., Emeryk-Szajewska, Barbara, Strugalska, Halina, Bergoffen, JoAnn, Willcox, Nicholas, Newsom-Davis, John

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Diaphragmatic hernia in tetrasomy 12p mosaicism von Bergoffen, JoAnn, Punnett, Hope, Campbell, Tamberly J., Ross, Arthur J., Ruchelli, Eduardo, Zackai, Elaine H.

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FOLLOW UP STUDY OF MACRO CEPHALIC DEVELOPMENTALLY DELAYED PRESCHOOLERS von Bergoffen, Joann, Kaminer, Ruth K

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Consortium Fine Localization of X-Linked Charcot-Marie-Tooth Disease (CMTX1): Additional Support that Connexin32 Is the Defect in CMTX1 von Pericak-Vance, Margaret A., Barker, David F., Bergoffen, JoAnn, Chance, Phillip, Cochrane, Susan, Dahl, Niklas, Exler, Mareike-Christine, Fain, Pamela R., Fairweather, Nicholas D., Fischbeck, Kenneth, Gal, Andreas, Haites, Neva, Ionasescu, R., Ionasescu, Victor V., Kennerson, Marina L., Monaco, Anthony P., Mostaccuiolo, M., Nicholson, Garth A., Sillén, Anna, Haines, Jonathan L.

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