Deep sequencing with intronic capture enables identification of an APC exon 10 inversion in a patient with polyposis

Por Shirts, Brian H., Salipante, Stephen J., Casadei, Silvia, Ryan, Shawnia, Martin, Judith, Jacobson, Angela, Vlaskin, Tatyana, Koehler, Karen, Livingston, Robert J., King, Mary-Claire, Walsh, Tom, Pritchard, Colin C.
Publicado no Genet Med (2014)

Developing a survivorship care plan (SCP) delivery process for patients and primary care providers serving poor, rural, and minority patients with cancer

Por Tawfik, Bernard, Jaffe, Shoshana Adler, Mohler, Lisa, Oomen-Hajagos, Jamina, Gil, Inigo San, Chamberlain, Rachel, Gagnon, Suzanne, Kano, Miria, Gundelach, Amy, Ryan, Shawnia R, Abernathy, Janet, Wiggins, Charles, Sussman, Andrew, Dayao, Zoneddy
Publicado no Support Care Cancer (2021)

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Por Lamb, Allen N., Rosenfeld, Jill A., Neill, Nicholas J., Talkowski, Michael E., Blumenthal, Ian, Girirajan, Santhosh, Keelean-Fuller, Debra, Fan, Zheng, Pouncey, Jill, Stevens, Cathy, Mackay-Loder, Loren, Terespolsky, Deborah, Bader, Patricia, Rosenbaum, Kenneth, Vallee, Stephanie, Moeschler, John B., Ladda, Roger, Sell, Susan, Martin, Judith, Ryan, Shawnia, Jones, Marilyn C., Moran, Rocio, Shealy, Amy, Madan-Khetarpal, Suneeta, McConnell, Juliann, Surti, Urvashi, Delahaye, Andrée, Heron-Longe, Bénédicte, Pipiras, Eva, Benzacken, Brigitte, Passemard, Sandrine, Verloes, Alain, Isidor, Bertrand, Le Caignec, Cedric, Glew, Gwen M., Opheim, Kent E., Eichler, Evan E., Morton, Cynthia C., Gusella, James F., Schultz, Roger A., Ballif, Blake C., Shaffer, Lisa G.
Publicado em 2012