BRAF V600E mutation in Juvenile Xanthogranuloma family neoplasms of the central nervous system (CNS-JXG): a revised diagnostic algorithm to include pediatric Erdheim-Chester diseas...

por Picarsic, J., Pysher, T., Zhou, H., Fluchel, M., Pettit, T., Whitehead, M., Surrey, L. F., Harding, B., Goldstein, G., Fellig, Y., Weintraub, M., Mobley, B. C., Sharples, P. M., Sulis, M. L., Diamond, E. L., Jaffe, R., Shekdar, K., Santi, M.
Publicado 2019

Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants

por Brunelli, Luca, Jenkins, Sabrina M., Gudgeon, James M., Bleyl, Steven B., Miller, Christine E., Tvrdik, Tatiana, Dames, Shale A., Ostrander, Betsy, Daboub, Josue A. F., Zielinski, Brandon A., Zinkhan, Erin K., Underhill, Hunter R., Wilson, Theodore, Bonkowsky, Joshua L., Yost, Christian C., Botto, Lorenzo D., Jenkins, Justin, Pysher, Theodore J., Bayrak‐Toydemir, Pinar, Mao, Rong
Publicado 2019

Massively parallel sequencing identifies a previously unrecognized X-linked disorder resulting in lethality in male infants owing to amino-terminal acetyltransferase deficiency

por Rope, Alan F, Wang, Kai, Evjenth, Rune, Xing, Jinchuan, Johnston, Jennifer J, Swensen, Jeffrey J, Johnson, W Evan, Moore, Barry, Huff, Chad D, Bird, Lynne M, Carey, John C, Opitz, John M, Stevens, Cathy A, Schank, Christa, Fain, Heidi Deborah, Robison, Reid, Dalley, Brian, Chin, Steven, South, Sarah T, Pysher, Theodore J, Jorde, Lynn B, Hakonarson, Hakon, Lillehaug, Johan R, Biesecker, Leslie G, Yandell, Mark, Arnesen, Thomas, Lyon, Gholson J
Publicado 2011