Thrombopoietin measurement as a key component in the evaluation of pediatric thrombocytosis

Por Nelson, Nya D., Marcogliese, Andrea, Bergstrom, Katie, Scheurer, Michael, Mahoney, Donald, Bertuch, Alison A.
Publicado no Pediatr Blood Cancer (2016)

Pediatric cancer genetics research and an evolving preventive ethics approach for return of results after death of the subject

Por Scollon, Sarah, Bergstrom, Katie, McCullough, Laurence B., McGuire, Amy L., Gutierrez, Stephanie, Kerstein, Robin, Parsons, D. Williams, Plon, Sharon E.
Publicado no J Law Med Ethics (2015)

Obtaining informed consent for clinical tumor and germline exome sequencing of newly diagnosed childhood cancer patients

Por Scollon, Sarah, Bergstrom, Katie, Kerstein, Robin A, Wang, Tao, Hilsenbeck, Susan G, Ramamurthy, Uma, Gibbs, Richard A, Eng, Christine M, Chintagumpala, Murali M, Berg, Stacey L, McCullough, Laurence B, McGuire, Amy L, Plon, Sharon E, Parsons, D Williams
Publicado em 2014

Integrated tumor and germline whole-exome sequencing identifies mutations in MAPK and PI3K pathway genes in an adolescent with rosette-forming glioneuronal tumor of the fourth vent...

Por Lin, Frank Y., Bergstrom, Katie, Person, Richard, Bavle, Abhishek, Ballester, Leomar Y., Scollon, Sarah, Raesz-Martinez, Robin, Jea, Andrew, Birchansky, Sherri, Wheeler, David A., Berg, Stacey L., Chintagumpala, Murali M., Adesina, Adekunle M., Eng, Christine, Roy, Angshumoy, Plon, Sharon E., Parsons, D. Williams
Publicado no Cold Spring Harb Mol Case Stud (2016)

ASSESSING THE UTILITY OF CLINICAL TUMOR SEQUENCING IN THE PEDIATRIC NEURO-ONCOLOGY CLINIC

Por Parsons, D. Williams, Roy, Angshumoy, Monzon, Federico A., López-Terrada, Dolores H., Chintagumpala, Murali M., Berg, Stacey L., Hilsenbeck, Susan G., Wang, Tao, Adesina, Adekunle M., Li, Xiao-Nan, Kerstein, Robin A., Scollon, Sarah, Bergstrom, Katie, Street, Richard L., McCullough, Laurence B., McGuire, Amy L., Ramamurthy, Uma, Wheeler, David A., Eng, Christine M., Yang, Yaping, Reid, Jeff G., Muzny, Donna M., Gibbs, Richard A., Plon, Sharon E.
Publicado em 2014

Diagnostic Yield of Clinical Tumor and Germline Whole-Exome Sequencing for Children With Solid Tumors

Por Parsons, D. Williams, Roy, Angshumoy, Yang, Yaping, Wang, Tao, Scollon, Sarah, Bergstrom, Katie, Kerstein, Robin A., Gutierrez, Stephanie, Petersen, Andrea K., Bavle, Abhishek, Lin, Frank Y., López-Terrada, Dolores H., Monzon, Federico A., Hicks, M. John, Eldin, Karen W., Quintanilla, Norma M., Adesina, Adekunle M., Mohila, Carrie A., Whitehead, William, Jea, Andrew, Vasudevan, Sanjeev A., Nuchtern, Jed G., Ramamurthy, Uma, McGuire, Amy L., Hilsenbeck, Susan G., Reid, Jeffrey G., Muzny, Donna M., Wheeler, David A., Berg, Stacey L., Chintagumpala, Murali M., Eng, Christine M., Gibbs, Richard A., Plon, Sharon E.
Publicado no JAMA Oncol (2016)

Haploinsufficiency of the Chromatin Remodeler BPTF Causes Syndromic Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features

Por Stankiewicz, Paweł, Khan, Tahir N., Szafranski, Przemyslaw, Slattery, Leah, Streff, Haley, Vetrini, Francesco, Bernstein, Jonathan A., Brown, Chester W., Rosenfeld, Jill A., Rednam, Surya, Scollon, Sarah, Bergstrom, Katie L., Parsons, Donald W., Plon, Sharon E., Vieira, Marta W., Quaio, Caio R.D.C., Baratela, Wagner A.R., Acosta Guio, Johanna C., Armstrong, Ruth, Mehta, Sarju G., Rump, Patrick, Pfundt, Rolph, Lewandowski, Raymond, Fernandes, Erica M., Shinde, Deepali N., Tang, Sha, Hoyer, Juliane, Zweier, Christiane, Reis, André, Bacino, Carlos A., Xiao, Rui, Breman, Amy M., Smith, Janice L., Katsanis, Nicholas, Bostwick, Bret, Popp, Bernt, Davis, Erica E., Yang, Yaping
Publicado no Am J Hum Genet (2017)

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond–like features

Por Carapito, Raphael, Konantz, Martina, Paillard, Catherine, Miao, Zhichao, Pichot, Angélique, Leduc, Magalie S., Yang, Yaping, Bergstrom, Katie L., Mahoney, Donald H., Shardy, Deborah L., Alsaleh, Ghada, Naegely, Lydie, Kolmer, Aline, Paul, Nicodème, Hanauer, Antoine, Rolli, Véronique, Müller, Joëlle S., Alghisi, Elisa, Sauteur, Loïc, Macquin, Cécile, Morlon, Aurore, Sancho, Consuelo Sebastia, Amati-Bonneau, Patrizia, Procaccio, Vincent, Mosca-Boidron, Anne-Laure, Marle, Nathalie, Osmani, Naël, Lefebvre, Olivier, Goetz, Jacky G., Unal, Sule, Akarsu, Nurten A., Radosavljevic, Mirjana, Chenard, Marie-Pierre, Rialland, Fanny, Grain, Audrey, Béné, Marie-Christine, Eveillard, Marion, Vincent, Marie, Guy, Julien, Faivre, Laurence, Thauvin-Robinet, Christel, Thevenon, Julien, Myers, Kasiani, Fleming, Mark D., Shimamura, Akiko, Bottollier-Lemallaz, Elodie, Westhof, Eric, Lengerke, Claudia, Isidor, Bertrand, Bahram, Seiamak
Publicado no J Clin Invest (2017)