Search Results - "Freed, Amanda"

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.

“…To evaluate the clinical usefulness of rapid exome sequencing (rES) in critically ill children with likely genetic disease using a standardized process at a…”
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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

“…Primary defects in lung branching morphogenesis, resulting in neonatal lethal pulmonary hypoplasias, are incompletely understood. To elucidate the…”
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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

“…Generation of robust cell-mediated immune responses at mucosal surfaces while reducing overall inflammation is a primary goal for vaccination. Here we report…”
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CNTNAP1 mutations in an adult with Charcot Marie Tooth disease by Freed, Amanda S., Weiss, Michael D., Malouf, Emily A., Hisama, Fuki M.

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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

“…Genetic variants in the SLC6A1 gene can cause a broad phenotypic disease spectrum by altering the protein function. Thus, systematically curated clinically…”
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P346: Somatic RUNX1 variants in hematologic malignancy: Could they be germline? by Wang, Kelly, Sweredoski, Michael, Ghahramani, Negar, Freed, Amanda

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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.

“…•Decision aids have been used in many fields to support quality decision making.•Additional findings are optional for individuals undergoing genomic…”
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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.

“…We describe a neonate with severe respiratory failure due to acinar dysplasia found by rapid exome sequencing (rES), to have a deletion containing the TBX4…”
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ORCA, a values-based decision aid for selecting additional findings from genomic sequencing in adults: Efficacy results from a randomized trial by Liles, Elizabeth G., Leo, Michael C., Freed, Amanda S., Porter, Kathryn M., Zepp, Jamilyn M., Kauffman, Tia L., Keast, Erin, McMullen, Carmit K., Gruß, Inga, Biesecker, Barbara B., Muessig, Kristin R., Eubanks, Donna J., Amendola, Laura M., Dorschner, Michael O., Rolf, Bradley A., Jarvik, Gail P., Goddard, Katrina A.B., Wilfond, Benjamin S.

“…Individuals having genomic sequencing can choose to be notified about pathogenic variants in genes unrelated to the testing indication. A decision aid can…”
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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.

“…Exome sequencing (ES) has revolutionized molecular diagnosis in children with genetic disease over the past decade. However, exome sequencing in the inpatient…”
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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.

“…CHRNB1 encodes the β subunit of the acetylcholine receptor (AChR) at the neuromuscular junction. Inherited defects in the neuromuscular junction can lead to…”
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ClinGen’s Pediatric Actionability Working Group: Clinical actionability of secondary findings from genome-scale sequencing in children and adolescents by Hunter, Jessica Ezzell, Jenkins, Charisma L., Bulkley, Joanna E., Gilmore, Marian J., Lee, Kristy, Pak, Christine M., Wallace, Kathleen E., Buchanan, Adam H., Foreman, Ann Katherine M., Freed, Amanda S., Goehringer, Scott, Manickam, Kandamurugu, Meeks, Naomi J.L., Ramos, Erin M., Shah, Neethu, Steiner, Robert D., Subramanian, Sai Lakshmi, Trotter, Tracy, Webber, Elizabeth M., Williams, Marc S., Goddard, Katrina A.B., Powell, Bradford C.

“…Synthesis and curation of evidence regarding the clinical actionability of secondary findings (SFs) from genome-scale sequencing are needed to support…”
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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

“…Regulation of immune responses is critical for controlling inflammation and disruption of this process can lead to tissue damage. We reported that CXCL13 was…”
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eP452: Diagnostic yield and outcomes of NGS testing in pregnancies with a fetal structural anomaly by Freed, Amanda

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Electrodiagnostic elucidation of a novel variant in the acetylcholine receptor gene identified by rapid trio exome sequencing, leading to the diagnosis and treatment of congenital myasthenia syndrome in an infant presenting with fetal akinesia deformation sequence. (P3.7-006) by Schwarz, Anisha, Freed, Amanda, Brei, Brianna, Candadai, Sarah Clowes, Chabra, Shilpi, Wang, Leo, Bennett, James

“…Abstract only…”
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Most people share genetic test results with relatives even if the findings are normal: Family communication in a diverse population by Hunter, Jessica E., Riddle, Leslie, Joseph, Galen, Amendola, Laura M., Gilmore, Marian J., Zepp, Jamilyn M., Shuster, Elizabeth, Bulkley, Joanna E., Muessig, Kristin R., Anderson, Katherine P., Goddard, Katrina A.B., Wilfond, Benjamin S., Leo, Michael C., Allen, Jake, Angelo, Frank, Arnold, Briana L., Bellcross, Cecelia, Bendelow, Tiffany, B, Barbara, Biesecker, Breslin, Kristin D., Booker, Kristina F., Caruncho, Mikaella, Davis, James V., Deutsch, Sonia, Devine, Beth, Dorschner, Michael O., Duenas, Devan, Eubanks, Donna J., Feigelson, Heather Spencer, Freed, Amanda S., Greaney, Clay, Gruß, Inga, Guerra, Claudia, Guo, Boya, Holup, Joan, Ingphakorn, Chalinya L., Jackson, Paige, Jarvik, Gail P., Jenkins, Charisma L., Karliner, Leah S., Kaufmann, Tia, Keast, Erin, Knerr, Sarah, Koomas, Alyssa H., Kraft, Stephanie A., Lee, Mi H., Lee, Robin, Soo-Jin Lee, Sandra, Lewis, Hannah S., Liles, Elizabeth G., Lindberg, Nangel M., Lynch, Frances, McMullen, Carmit K., Medina, Elizabeth, Mittendorf, Kathleen F., Muessig, Kristin R., Okuyama, Sonia, Peterson, C. Samuel, Paolucci, Angela R., Perez, Rosse Rodriguez, Porter, Kathryn M., Ransom, Chelese L., Reyes, Ana, 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, Lee White, Larissa

“…With increasing utilization of genetic testing, sharing genetic information can become part of general family health communication while providing biological…”
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Laboratory-related outcomes from integrating an accessible delivery model for hereditary cancer risk assessment and genetic testing in populations with barriers to access by Amendola, Laura M., Shuster, Elizabeth, Leo, Michael C., Dorschner, Michael O., Rolf, Bradley A., Shirts, Brian H., Gilmore, Marian J., Okuyama, Sonia, Zepp, Jamilyn M., Kauffman, Tia L., Mittendorf, Kathleen F., Bellcross, Cecilia, Jenkins, Charisma L., Joseph, Galen, Riddle, Leslie, Syngal, Sapna, Ukaegbu, Chinedu, Goddard, Katrina A.B., Wilfond, Benjamin S., Jarvik, Gail P., 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, Devine, Beth, Dorschner, Michael O., Duenas, Devan M., Eubanks, Donna J., Feigelson, Heather Spencer, Freed, Amanda S., Gilmore, Marian J., Goddard, Katrina A.B., Greaney, Clay, Gruß, Inga, Guerra, Claudia, Guo, Boya, Holup, Joan, Hunter, Jessica Ezzell, Ingphakorn, Chalinya L., Jackson, Paige, Jarvik, Gail P., Jenkins, Charisma L., Joseph, Galen, Karliner, Leah S., Kauffman, Tia L., Keast, Erin, Knerr, Sarah, Koomas, Alyssa H., Kraft, Stephanie A., Lee, Mi H., Lee, Robin, Soo-Jin Lee, Sandra, Leo, Michael C., Lewis, Hannah S., Liles, Elizabeth G., Lindberg, Nangel M., Lynch, Frances, McMullen, Carmit K., Medina, Elizabeth, Mittendorf, Kathleen F., 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, Lee White, Larissa, Wilfond, Benjamin S., Zepp, Jamilyn M.

“…This study aimed to evaluate the laboratory-related outcomes of participants who were offered genomic testing based on cancer family history risk assessment…”
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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

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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

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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

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