RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas

por Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, van der Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.
Publicado 2019

Determining the frequency of pathogenic germline variants from exome sequencing in patients with castrate-resistant prostate cancer

por Hart, Steven N, Ellingson, Marissa S, Schahl, Kim, Vedell, Peter T, Carlson, Rachel E, Sinnwell, Jason P, Barman, Poulami, Sicotte, Hugues, Eckel-Passow, Jeanette E, Wang, Liguo, Kalari, Krishna R, Qin, Rui, Kruisselbrink, Teresa M, Jimenez, Rafael E, Bryce, Alan H, Tan, Winston, Weinshilboum, Richard, Wang, Liewei, Kohli, Manish
Publicado 2016

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy

por Ellingson, Marissa S., Hart, Steven N., Kalari, Krishna R., Suman, Vera, Schahl, Kimberly A., Dockter, Travis J., Felten, Sara J., Sinnwell, Jason P., Thompson, Kevin J., Tang, Xiaojia, Vedell, Peter T., Barman, Poulami, Sicotte, Hugues, Eckel-Passow, Jeanette E., Northfelt, Donald W., Gray, Richard J., McLaughlin, Sarah A., Moreno-Aspitia, Alvaro, Ingle, James N., Moyer, Ann M., Visscher, Daniel W., Jones, Katie, Conners, Amy, McDonough, Michelle, Wieben, Eric D., Wang, Liewei, Weinshilboum, Richard, Boughey, Judy C., Goetz, Matthew P.
Publicado 2015

CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum

por Konrad, Enrico D. H., Nardini, Niels, Caliebe, Almuth, Nagel, Inga, Young, Dana, Horvath, Gabriella, Santoro, Stephanie L., Shuss, Christine, Ziegler, Alban, Bonneau, Dominique, Kempers, Marlies, Pfundt, Rolph, Legius, Eric, Bouman, Arjan, Stuurman, Kyra E., Õunap, Katrin, Pajusalu, Sander, Wojcik, Monica H., Vasileiou, Georgia, Le Guyader, Gwenaël, Schnelle, Hege M., Berland, Siren, Zonneveld-Huijssoon, Evelien, Kersten, Simone, Gupta, Aditi, Blackburn, Patrick R., Ellingson, Marissa S., Ferber, Matthew J., Dhamija, Radhika, Klee, Eric W., McEntagart, Meriel, Lichtenbelt, Klaske D., Kenney, Amy, Vergano, Samantha A., Abou Jamra, Rami, Platzer, Konrad, Ella Pierpont, Mary, Khattar, Divya, Hopkin, Robert J., Martin, Richard J., Jongmans, Marjolijn C. J., Chang, Vivian Y., Martinez-Agosto, Julian A., Kuismin, Outi, Kurki, Mitja I., Pietiläinen, Olli, Palotie, Aarno, Maarup, Timothy J., Johnson, Diana S., Venborg Pedersen, Katja, Laulund, Lone W., Lynch, Sally A., Blyth, Moira, Prescott, Katrina, Canham, Natalie, Ibitoye, Rita, Brilstra, Eva H., Shinawi, Marwan, Fassi, Emily, Sticht, Heinrich, Gregor, Anne, Van Esch, Hilde, Zweier, Christiane
Publicado 2019