The Impact of Rapid Exome Sequencing on Medical Management of Critically Ill Children by Freed, Amanda S., Clowes Candadai, Sarah V., Sikes, Megan C., Thies, Jenny, Byers, Heather M., Dines, Jennifer N., Ndugga-Kabuye, Mesaki Kenneth, Smith, Mallory B., Fogus, Katie, Mefford, Heather C., Lam, Christina, Adam, Margaret P., Sun, Angela, McGuire, John K., DiGeronimo, Robert, Dipple, Katrina M., Deutsch, Gail H., Billimoria, Zeenia C., Bennett, James T.

Get full text

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway by Karolak, Justyna A., Vincent, Marie, Deutsch, Gail, Gambin, Tomasz, Cogné, Benjamin, Pichon, Olivier, Vetrini, Francesco, Mefford, Heather C., Dines, Jennifer N., Golden-Grant, Katie, Dipple, Katrina, Freed, Amanda S., Leppig, Kathleen A., Dishop, Megan, Mowat, David, Bennetts, Bruce, Gifford, Andrew J., Weber, Martin A., Lee, Anna F., Boerkoel, Cornelius F., Bartell, Tina M., Ward-Melver, Catherine, Besnard, Thomas, Petit, Florence, Bache, Iben, Tümer, Zeynep, Denis-Musquer, Marie, Joubert, Madeleine, Martinovic, Jelena, Bénéteau, Claire, Molin, Arnaud, Carles, Dominique, André, Gwenaelle, Bieth, Eric, Chassaing, Nicolas, Devisme, Louise, Chalabreysse, Lara, Pasquier, Laurent, Secq, Véronique, Don, Massimiliano, Orsaria, Maria, Missirian, Chantal, Mortreux, Jérémie, Sanlaville, Damien, Pons, Linda, Küry, Sébastien, Bézieau, Stéphane, Liet, Jean-Michel, Joram, Nicolas, Bihouée, Tiphaine, Scott, Daryl A., Brown, Chester W., Scaglia, Fernando, Tsai, Anne Chun-Hui, Grange, Dorothy K., Phillips, John A., Pfotenhauer, Jean P., Jhangiani, Shalini N., Gonzaga-Jauregui, Claudia G., Chung, Wendy K., Schauer, Galen M., Lipson, Mark H., Mercer, Catherine L., van Haeringen, Arie, Liu, Qian, Popek, Edwina, Coban Akdemir, Zeynep H., Lupski, James R., Szafranski, Przemyslaw, Isidor, Bertrand, Le Caignec, Cedric, Stankiewicz, Paweł

Get full text

A vault nanoparticle vaccine induces protective mucosal immunity by Champion, Cheryl I, Kickhoefer, Valerie A, Liu, Guangchao, Moniz, Raymond J, Freed, Amanda S, Bergmann, Liisa L, Vaccari, Dana, Raval-Fernandes, Sujna, Chan, Ann M, Rome, Leonard H, Kelly, Kathleen A

Get full text

SLC6A1 variant pathogenicity, molecular function and phenotype: a genetic and clinical analysis by Stefanski, Arthur, Pérez-Palma, Eduardo, Brünger, Tobias, Montanucci, Ludovica, Gati, Cornelius, Klöckner, Chiara, Johannesen, Katrine M, Goodspeed, Kimberly, Macnee, Marie, Deng, Alexander T, Aledo-Serrano, Ángel, Borovikov, Artem, Kava, Maina, Bouman, Arjan M, Hajianpour, M J, Pal, Deb K, Engelen, Marc, Hagebeuk, Eveline E O, Shinawi, Marwan, Heidlebaugh, Alexis R, Oetjens, Kathryn, Hoffman, Trevor L, Striano, Pasquale, Freed, Amanda S, Futtrup, Line, Balslev, Thomas, Abulí, Anna, Danvoye, Leslie, Lederer, Damien, Balci, Tugce, Nouri, Maryam Nabavi, Butler, Elizabeth, Drewes, Sarah, van Engelen, Kalene, Howell, Katherine B, Khoury, Jean, May, Patrick, Trinidad, Marena, Froelich, Steven, Lemke, Johannes R, Tiller, Jacob, Freed, Amber N, Kang, Jing-Qiong, Wuster, Arthur, Møller, Rikke S, Lal, Dennis

Get full text

CNTNAP1 mutations in an adult with Charcot Marie Tooth disease by Freed, Amanda S., Weiss, Michael D., Malouf, Emily A., Hisama, Fuki M.

Get full text

P346: Somatic RUNX1 variants in hematologic malignancy: Could they be germline? by Wang, Kelly, Sweredoski, Michael, Ghahramani, Negar, Freed, Amanda

Get full text

A decision aid for additional findings in genomic sequencing: Development and pilot testing by Freed, Amanda S., Gruß, Inga, McMullen, Carmit K., Leo, Michael C., Kauffman, Tia L., Porter, Kathryn M., Muessig, Kristin R., Eubanks, Donna, Goddard, Katrina A.B., Wilfond, Benjamin S., Liles, Elizabeth G.

Get full text

Identification of a deletion containing TBX4 in a neonate with acinar dysplasia by rapid exome sequencing by German, Kendell, Deutsch, Gail H., Freed, Amanda S., Dipple, Katrina M., Chabra, Shilpi, Bennett, James T.

Get full text

Rapid clinical exome sequencing in a pediatric ICU: Genetic counselor impacts and challenges by Clowes Candadai, Sarah V., Sikes, Megan C., Thies, Jenny M., Freed, Amanda S., Bennett, James T.

Get full text

CHRNB1‐associated congenital myasthenia syndrome: Expanding the clinical spectrum by Freed, Amanda S., Schwarz, Anisha C., Brei, Brianna K., Clowes Candadai, Sarah V., Thies, Jenny, Mah, Jean K., Chabra, Shilpi, Wang, Leo, Innes, A. Micheil, Bennett, James T.

Get full text

Interruption of CXCL13-CXCR5 axis increases upper genital tract pathology and activation of NKT cells following chlamydial genital infection by Jiang, Janina, Karimi, Ouafae, Ouburg, Sander, Champion, Cheryl I, Khurana, Archana, Liu, Guangchao, Freed, Amanda, Pleijster, Jolein, Rozengurt, Nora, Land, Jolande A, Surcel, Helja-Marja, Tiitinen, Aila', Paavonen, Jorma, Kronenberg, Mitchell, Morré, Servaas A, Kelly, Kathleen A

Get full text

Clinical actionability of secondary findings in the pediatric context by Wallace, Kathleen, Lee, Kristy, Gilmore, Marinan, Mittendorf, Kathleen, Pak, Christine, Bulkley, Joanna, Foreman, Ann Katherine, Freed, Amanda, Manickam, Kandamurugu, Meeks, Naomi, Ramos, Erin, Shah, Neethu, Steiner, Robert, Subramanian, Sai Lakshmi, Trotter, Tracy, Webber, Elizabeth, Williams, Marc, Goddard, Katrina, Powell, Bradford, Hunter, Jessica

Get full text

ClinGen’s actionability working groups: development and early implementation of an assertion rubric for clinical actionability by Pak, Christine, Hunter, Jessica Ezzell, Gilmore, Marian, Lee, Kristy, Mittendorf, Kathleen, Wallace, Kathleen, Bulkley, Joanna, Jenkins, Charisma, Dagan-Rosenfeld, Orit, Foreman, Ann Katherine, Freed, Amanda, Gollob, Michael, Katz, Alexander, Manickam, Kandamurugu, Meeks, Naomi, O’Daniel, Julianne, Posey, Jennifer Ellen, Ramos, Erin, Shah, Neethu, Steiner, Robert, Subramanian, Sai Lakshmi, Trotter, Tracy, Vengoechea, Jaime, Williams, Marc, Buchanan, Adam, Powell, Bradford, Goddard, Katrina

Get full text

eP193 - ClinGen’s actionability working groups: development and early implementation of an assertion rubric for clinical actionability by Pak, Christine, Hunter, Jessica Ezzell, Gilmore, Marian, Lee, Kristy, Mittendorf, Kathleen, Wallace, Kathleen, Bulkley, Joanna, Jenkins, Charisma, Dagan-Rosenfeld, Orit, Foreman, Ann Katherine, Freed, Amanda, Gollob, Michael, Katz, Alexander, Manickam, Kandamurugu, Meeks, Naomi, O’Daniel, Julianne, Posey, Jennifer Ellen, Ramos, Erin, Shah, Neethu, Steiner, Robert, Subramanian, Sai Lakshmi, Trotter, Tracy, Vengoechea, Jaime, Williams, Marc, Buchanan, Adam, Powell, Bradford, Goddard, Katrina

Get full text

OP097 - Clinical actionability of secondary findings in the pediatric context by Wallace, Kathleen, Lee, Kristy, Gilmore, Marinan, Mittendorf, Kathleen, Pak, Christine, Bulkley, Joanna, Foreman, Ann Katherine, Freed, Amanda, Manickam, Kandamurugu, Meeks, Naomi, Ramos, Erin, Shah, Neethu, Steiner, Robert, Subramanian, Sai Lakshmi, Trotter, Tracy, Webber, Elizabeth, Williams, Marc, Goddard, Katrina, Powell, Bradford, Hunter, Jessica

Get full text

Risk management actions following genetic testing in the Cancer Health Assessments Reaching Many (CHARM) Study: A prospective cohort study by Guo, Boya, Knerr, Sarah, Kauffman, Tia L., Mittendorf, Kathleen F., Keast, Erin, Gilmore, Marian J., Feigelson, Heather Spencer, Lynch, Frances L., Muessig, Kristin R., Okuyama, Sonia, Zepp, Jamilyn M., Veenstra, David L., Hsu, Li, Phipps, Amanda I., Lindström, Sara, Leo, Michael C., Goddard, Katrina A. B., Wilfond, Benjamin S., Devine, Beth, Allen, Jake, Amendola, Laura M., Anderson, Katherine P., Angelo, Frank, Arnold, Briana L., Bellcross, Cecelia, Bendelow, Tiffany, Biesecker, Barbara B., Breslin, Kristin D., Bulkley, Joanna E., Booker, Kristina F., Caruncho, Mikaella, Davis, James V., Deutsch, Sonia, Dorschner, Michael O., Duenas, Devan M., Eubanks, Donna J., Freed, Amanda S., Gilmore, Marian J., Greaney, Clay, Gruß, Inga, Guerra, Claudia, Holup, Joan, Hunter, Jessica Ezzell, Ingphakorn, Chalinya L., Jackson, Paige, Jarvik, Gail P., Jenkins, Charisma L., Joseph, Galen, Karliner, Leah S., Koomas, Alyssa H., Kraft, Stephanie A., Lee, Mi H., Lee, Robin, Lee, Sandra Soo‐Jin, Lewis, Hannah S., Liles, Elizabeth G., Lindberg, Nangel M., McMullen, Carmit K., Medina, Elizabeth, Muessig, Kristin R., Okuyama, Sonia, Peterson, C. Samuel, Paolucci, Angela R., Perez, Rosse Rodriguez, Porter, Kathryn M., Ransom, Chelese L., Reyes, Ana, Riddle, Leslie S., Robinson, Sperry, Rolf, Bradley A., Rope, Alan F., Schield, Emily, Schneider, Jennifer L., Shipman, Kelly J., Shirts, Brian H, Shuster, Elizabeth, Syngal, Sapna, Torgrimson‐Ojerio, Britta N., Ukaegbu, Chinedu, Vandermeer, Meredith L., Varga, Alexandra M., Veenstra, David L., Whitebirch, W. Chris, White, Larissa Lee

Get full text

Correction: Interruption of CXCL13-CXCR5 Axis Increases Upper Genital Tract Pathology and Activation of NKT Cells following Chlamydial Genital Infection by Jiang, Janina, Karimi, Ouafae, Ouburg, Sander, Champion, Cheryl I., Khurana, Archana, Liu, Guangchao, Freed, Amanda, Pleijster, Jolein, Rozengurt, Nora, Land, Jolande A., Surcel, Helja-Marja, Tiitinen, Aila', Paavonen, Jorma, Kronenberg, Mitchell, Morré, Servaas A., Kelly, Kathleen A.

Get full text

Correction: Interruption of CXCL13-CXCR5 Axis Increases Upper Genital Tract Pathology and Activation of NKT Cells following Chlamydial Genital Infection by Janina Jiang, Ouafae Karimi, Sander Ouburg, Cheryl I. Champion, Archana Khurana, Guangchao Liu, Amanda Freed, Jolein Pleijster, Nora Rozengurt, Jolande A. Land, Helja-Marja Surcel, Aila' Tiitinen, Jorma Paavonen, Mitchell Kronenberg, Servaas A. Morré, Kathleen A. Kelly

Get full text

Alternative Vaccination Schedule Preferences Among Parents of Young Children by DEMPSEY, Amanda F, SCHAFFER, Sarah, SINGER, Dianne, BUTCHART, Amy, DAVIS, Matthew, FREED, Gary L

Get full text

New developments in translational microcirculatory research by SenthilKumar, Gopika, Gutierrez-Huerta, Cristhian A, Freed, Julie K, Beyer, Andreas M, Fancher, Ibra S, LeBlanc, Amanda Jo

Get full text