Tumor Sequencing and Patient-Derived Xenografts in the Neoadjuvant Treatment of Breast Cancer von Goetz, Matthew P, Kalari, Krishna R, Suman, Vera J, Moyer, Ann M, Yu, Jia, Visscher, Daniel W, Dockter, Travis J, Vedell, Peter T, Sinnwell, Jason P, Tang, Xiaojia, Thompson, Kevin J, McLaughlin, Sarah A, Moreno-Aspitia, Alvaro, Copland, John A, Northfelt, Donald W, Gray, Richard J, Hunt, Katie, Conners, Amy, Sicotte, Hugues, Eckel-Passow, Jeanette E, Kocher, Jean-Pierre, Ingle, James N, Ellingson, Marissa S, McDonough, Michelle, Wieben, Eric D, Weinshilboum, Richard, Wang, Liewei, Boughey, Judy C

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Appreciating the broad clinical features of SMAD4 mutation carriers: a multicenter chart review von Wain, Karen E., Ellingson, Marissa S., McDonald, Jamie, Gammon, Amanda, Roberts, Maegan, Pichurin, Pavel, Winship, Ingrid, Riegert-Johnson, Douglas L., Weitzel, Jeffrey N., Lindor, Noralane M.

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

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Preemptive Genotyping for Personalized Medicine: Design of the Right Drug, Right Dose, Right Time—Using Genomic Data to Individualize Treatment Protocol von Bielinski, Suzette J., PhD, MEd, Olson, Janet E., PhD, Pathak, Jyotishman, PhD, Weinshilboum, Richard M., MD, Wang, Liewei, MD, PhD, Lyke, Kelly J, Ryu, Euijung, PhD, Targonski, Paul V., MD, PhD, Van Norstrand, Michael D., MD, PhD, Hathcock, Matthew A., MS, Takahashi, Paul Y., MD, McCormick, Jennifer B., PhD, MPP, Johnson, Kiley J., MS, CGC, Maschke, Karen J., PhD, Rohrer Vitek, Carolyn R., MS, Ellingson, Marissa S., MS, CGC, Wieben, Eric D., PhD, Farrugia, Gianrico, MD, Morrisette, Jody A., MBA, Kruckeberg, Keri J., BA, Bruflat, Jamie K., MS, Peterson, Lisa M., BS, Blommel, Joseph H., MS, Skierka, Jennifer M., BS, Ferber, Matthew J., PhD, Black, John L., MD, Baudhuin, Linnea M., PhD, Klee, Eric W., PhD, Ross, Jason L., MA, Veldhuizen, Tamra L., BS, Schultz, Cloann G., MS, Caraballo, Pedro J., MD, Freimuth, Robert R., PhD, Chute, Christopher G., MD, DrPH, Kullo, Iftikhar J., MD

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WDR37 syndrome: identification of a distinct new cluster of disease-associated variants and functional analyses of mutant proteins von Sorokina, Elena A., Reis, Linda M., Thompson, Samuel, Agre, Katherine, Babovic-Vuksanovic, Dusica, Ellingson, Marissa S., Hasadsri, Linda, van Bever, Yolande, Semina, Elena V.

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Development of a flipped learning course to deliver and scale molecular variant evaluation education: A quality improvement initiative von Balcom, Jessica R., Ellingson, Marissa S., Bowler, Carrie A., Richardson, Darcy M., Kruisselbrink, Teresa, Thomas, Brittany C.

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Impact of integrated translational research on clinical exome sequencing von Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

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

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RNA‐Seq detects a SAMD12‐EXT1 fusion transcript and leads to the discovery of an EXT1 deletion in a child with multiple osteochondromas von Oliver, Gavin R., Blackburn, Patrick R., Ellingson, Marissa S., Conboy, Erin, Pinto e Vairo, Filippo, Webley, Matthew, Thorland, Erik, Ferber, Matthew, Van Hul, Els, Werf, Ilse M., Wuyts, Wim, Babovic‐Vuksanovic, Dusica, Klee, Eric W.

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CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity von Ernst, Michelle E., Baugh, Evan H., Thomas, Amanda, Bier, Louise, Lippa, Natalie, Stong, Nicholas, Mulhern, Maureen S., Kushary, Sulagna, Akman, Cigdem I., Heinzen, Erin L., Yeh, Raymond, Bi, Weimin, Hanchard, Neil A., Burrage, Lindsay C., Leduc, Magalie S., Chong, Josephine S. C., Bend, Renee, Lyons, Michael J., Lee, Jennifer A., Suwannarat, Pim, Brilstra, Eva, Simon, Marleen, Koopmans, Marije, Binsbergen, Ellen, Groepper, Daniel, Fleischer, Julie, Nava, Caroline, Keren, Boris, Mignot, Cyril, Mathieu, Sophie, Mancini, Grazia M. S., Madan‐Khetarpal, Suneeta, Infante, Elena M., Bluvstein, Judith, Seeley, Andrea, Bachman, Kristine, Klee, Eric W., Schultz‐Rogers, Laura E., Hasadsri, Linda, Barnett, Sarah, Ellingson, Marissa S., Ferber, Matthew J., Narayanan, Vinodh, Ramsey, Keri, Rauch, Anita, Joset, Pascal, Steindl, Katharina, Sheehan, Theodore, Poduri, Annapurna, Vasquez, Alejandra, Ruivenkamp, Claudia, White, Susan M., Pais, Lynn, Monaghan, Kristin G., Goldstein, David B., Sands, Tristan T., Aggarwal, Vimla

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

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Impact of integrated translational research on clinical exome sequencing von Klee, Eric W., Cousin, Margot A., Pinto e Vairo, Filippo, Morales-Rosado, Joel A., Macke, Erica L., Jenkinson, W. Garrett, Ferrer, Alejandro, Schultz-Rogers, Laura E., Olson, Rory J., Oliver, Gavin R., Sigafoos, Ashley N., Schwab, Tanya L., Zimmermann, Michael T., Urrutia, Raul A., Kaiwar, Charu, Gupta, Aditi, Blackburn, Patrick R., Boczek, Nicole J., Prochnow, Carri A., Lowy, Rebecca J., Mulvihill, Lindsay A., McAllister, Tammy M., Aoudia, Stacy L., Kruisselbrink, Teresa M., Gunderson, Lauren B., Kemppainen, Jennifer L., Fisher, Laura J., Tarnowski, Jessica M., Hager, Megan M., Kroc, Sarah A., Bertsch, Nicole L., Agre, Katherine E., Jackson, Jessica L., Macklin-Mantia, Sarah K., Murphree, Marine I., Rust, Laura M., Summer Bolster, Jolene M., Beck, Scott A., Atwal, Paldeep S., Ellingson, Marissa S., Barnett, Sarah S., Rasmussen, Kristen J., Lahner, Carrie A., Niu, Zhiyv, Hasadsri, Linda, Ferber, Matthew J., Marcou, Cherisse A., Clark, Karl J., Pichurin, Pavel N., Deyle, David R., Morava-Kozicz, Eva, Gavrilova, Ralitza H., Dhamija, Radhika, Wierenga, Klaas J., Lanpher, Brendan C., Babovic-Vuksanovic, Dusica, Farrugia, Gianrico, Schimmenti, Lisa A., Stewart, A. Keith, Lazaridis, Konstantinos N.

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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum von 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, Ounap, Katrin, Pajusalu, Sander, Wojcik, Monica H, Vasileiou, Georgia, Le Guyader, Gwenael, 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, Pierpont, Mary Ella, Khattar, Divya, Hopkin, Robert J, Martin, Richard J, Jongmans, Marjolijn C.J, Chang, Vivian Y, Martinez-Agosto, Julian A, Kuismin, Outi, Kurki, Mitja, Pietilainen, Olli, Palotie, Aarno, Maarup, Timothy J, Johnson, Diana S, Pedersen, Katja Venborg, 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

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Pregnancy in an individual with mild Smith-Lemli-Opitz syndrome von Ellingson, M.S., Wick, M.J., White, W.M., Raymond, K.M., Saenger, A.K., Pichurin, P.N., Wassif, C.A., Porter, F.D., Babovic-Vuksanovic, D.

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P897: DEIJ advancement in the genomics laboratory through GC-driven advocacy: A process improvement review of sex/gender verification SOPs von Essendrup, Anna, Brunker, Sarah, Ellingson, Marissa, Bortnova, Jessica, Salsbery, Kyle, Hasadsri, Linda, Niu, Zhiyv

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