Influence of CYP2D6 metabolizer status on ondansetron efficacy in pediatric patients undergoing hematopoietic stem cell transplantation: A case series

por Edwards, Andrea, Teusink‐Cross, Ashley, Martin, Lisa J., Prows, Cynthia A., Mehta, Parinda A., Ramsey, Laura B.
Publicado 2021

Influence of CYP2C19 Metabolizer Status on Escitalopram/Citalopram Tolerability and Response in Youth With Anxiety and Depressive Disorders

por Aldrich, Stacey L., Poweleit, Ethan A., Prows, Cynthia A., Martin, Lisa J., Strawn, Jeffrey R., Ramsey, Laura B.
Publicado 2019

Facilitating Genetics Aware Clinical Decision Support: Putting the eMERGE Infrastructure into Practice

por Taylor, Casey Overby, Rasmussen, Luke V., Rasmussen-Torvik, Laura J., Prows, Cynthia A., Dorr, David A., Samal, Lipika, Aronson, Samuel
Publicado 2021

Association of CYP2D6 genotype predicted phenotypes with oxycodone requirements and side effects in children undergoing surgery

por Merchant, Soroush, Prows, Cynthia A., Yang, Fang, Ding, Lili, MacDonald, Jacob, Zhang, Xue, Sadhasivam, Senthilkumar, Garcia, Victor, Sturm, Peter, Chidambaran, Vidya
Publicado 2022

Engaging Adolescents and Young Adults in Decisions About Return of Genomic Research Results: a mixed-methods longitudinal clinical trial protocol

por Blumling, Amy, McGowan, Michelle, Prows, Cynthia, Childers-Buschle, Kristin, Martin, Lisa, Lynch, John, Dufendach, Kevin, Lipstein, Ellen, Kovacic, Melinda Butsch, Brinkman, Bill, Myers, Melanie
Publicado 2023

Developing video education materials for the return of genomic test results to parents and adolescents

por Lynch, John A., Idleburg, Michaela J., Butsch Kovacic, Melinda, Childers-Buschle, Kristin E., Dufendach, Kevin R., Lipstein, Ellen A., McGowan, Michelle L., Myers, Melanie F., Prows, Cynthia A.
Publicado 2022

Studying the impact of translational genomic research: Lessons from eMERGE

por Clayton, Ellen Wright, Smith, Maureen E., Anderson, Katherine C., Chung, Wendy K., Connolly, John J., Fullerton, Stephanie M., McGowan, Michelle L., Peterson, Josh F., Prows, Cynthia A., Sabatello, Maya, Holm, Ingrid A.
Publicado 2023

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features

por Russell, Bianca E., Rigueur, Diana, Weaver, Kathryn N., Sund, Kristen, Basil, Janet S., Hufnagel, Robert B., Prows, Cynthia A., Oestreich, Alan, Al‐Gazali, Lihadh, Hopkin, Robert J, Saal, Howard M., Lyons, Karen, Dauber, Andrew
Publicado 2019

Outcomes of Returning Medically Actionable Genomic Results in Pediatric Research

por Blumling, Amy A., Prows, Cynthia A., Harr, Margaret H., Chung, Wendy K., Clayton, Ellen Wright, Holm, Ingrid A., Wiesner, Georgia L., Connolly, John J., Harley, John B., Hakonarson, Hakon, McGowan, Michelle L., Miller, Erin M., Myers, Melanie F.
Publicado 2022

Return of results in the genomic medicine projects of the eMERGE network

por Kullo, Iftikhar J., Haddad, Ra'ad, Prows, Cynthia A., Holm, Ingrid, Sanderson, Saskia C., Garrison, Nanibaa' A., Sharp, Richard R., Smith, Maureen E., Kuivaniemi, Helena, Bottinger, Erwin P., Connolly, John J., Keating, Brendan J., McCarty, Catherine A., Williams, Marc S., Jarvik, Gail P.
Publicado 2014

Genomic Information for Clinicians in the Electronic Health Record: Lessons Learned From the Clinical Genome Resource Project and the Electronic Medical Records and Genomics Networ...

por Williams, Marc S., Taylor, Casey Overby, Walton, Nephi A., Goehringer, Scott R., Aronson, Samuel, Freimuth, Robert R., Rasmussen, Luke V., Hall, Eric S., Prows, Cynthia A., Chung, Wendy K., Fedotov, Alexander, Nestor, Jordan, Weng, Chunhua, Rowley, Robb K., Wiesner, Georgia L., Jarvik, Gail P., Del Fiol, Guilherme
Publicado 2019

Genetic Sex Validation for Sample Tracking in Clinical Testing

por Hu, Jianhong, Korchina, Viktoriya, Zouk, Hana, Harden, Maegan V., Murdock, David, Macbeth, Alyssa, Harrison, Steven M., Lennon, Niall, Kovar, Christie, Balasubramanian, Adithya, Zhang, Lan, Chandanavelli, Gauthami, Pasham, Divya, Rowley, Robb, Wiley, Ken, Smith, Maureen E., Gordon, Adam, Jarvik, Gail P., Sleiman, Patrick, Kelly, Melissa A, Bland, Harris T., Murugan, Mullai, Venner, Eric, Boerwinkle, Eric, Prows, Cynthia, Mahanta, Lisa, Rehm, Heidi L., Gibbs, Richard A., Muzny, Donna M.
Publicado 2023

Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing

por Cavallari, Larisa H., Van Driest, Sara L., Prows, Cynthia A., Bishop, Jeffrey R., Limdi, Nita A., Pratt, Victoria M., Ramsey, Laura B., Smith, D. Max, Tuteja, Sony, Duong, Benjamin Q., Hicks, J. Kevin, Lee, James C., Obeng, Aniwaa Owusu, Beitelshees, Amber L., Bell, Gillian C., Blake, Kathryn, Crona, Daniel J., Dressler, Lynn, Gregg, Ryan A., Hines, Lindsay J., Scott, Stuart A., Shelton, Richard C., Weitzel, Kristin Wiisanen, Johnson, Julie A., Peterson, Josh F., Empey, Philip E., Skaar, Todd C.
Publicado 2019

Ethical Considerations Related to Return of Results from Genomic Medicine Projects: The eMERGE Network (Phase III) Experience

por Fossey, Robyn, Kochan, David, Winkler, Erin, Pacyna, Joel E., Olson, Janet, Thibodeau, Stephen, Connolly, John J., Harr, Margaret, Behr, Meckenzie A., Prows, Cynthia A., Cobb, Beth, Myers, Melanie F., Leslie, Nancy D., Namjou-Khales, Bahram, Milo Rasouly, Hila, Wynn, Julia, Fedotov, Alexander, Chung, Wendy K., Gharavi, Ali, Williams, Janet L., Pais, Lynn, Holm, Ingrid, Aufox, Sharon, Smith, Maureen E., Scrol, Aaron, Leppig, Kathleen, Jarvik, Gail P., Wiesner, Georgia L., Li, Rongling, Stroud, Mary, Smoller, Jordan W., Sharp, Richard R., Kullo, Iftikhar J.
Publicado 2018

Understanding the Return of Genomic Sequencing Results Process: Content Review of Participant Summary Letters in the eMERGE Research Network

por Lynch, John A., Sharp, Richard R., Aufox, Sharon A., Bland, Sarah T., Blout, Carrie, Bowen, Deborah J., Buchanan, Adam H., Halverson, Colin, Harr, Margaret, Hebbring, Scott J., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Jarvik, Gail, Kullo, Iftikhar J., Kochan, David C., Larson, Eric B., Lazzeri, Amanda, Leppig, Kathleen A., Madden, Jill, Marasa, Maddalena, Myers, Melanie F., Peterson, Josh, Prows, Cynthia A., Kulchak Rahm, Alanna, Ralston, James, Milo Rasouly, Hila, Scrol, Aaron, Smith, Maureen E., Sturm, Amy, Stuttgen, Kelsey, Wiesner, Georgia, Williams, Marc S., Wynn, Julia, Williams, Janet L.
Publicado 2020

Returning Results in the Genomic Era: Initial Experiences of the eMERGE Network

por Wiesner, Georgia L., Kulchak Rahm, Alanna, Appelbaum, Paul, Aufox, Sharon, Bland, Sarah T., Blout, Carrie L., Christensen, Kurt D., Chung, Wendy K., Clayton, Ellen Wright, Green, Robert C., Harr, Margaret H., Henrikson, Nora, Hoell, Christin, Holm, Ingrid A., Jarvik, Gail P., Kullo, Iftikhar J., Lammers, Philip E., Larson, Eric B., Lindor, Noralane M., Marasa, Maddalena, F. Myers, Melanie, Peterson, Josh F., Prows, Cynthia A., Ralston, James D., Milo Rasouly, Hila, Sharp, Richard R., Smith, Maureen E., Van Driest, Sara L., Williams, Janet L., Williams, Marc S., Wynn, Julia, Leppig, Kathleen A.
Publicado 2020

Mutations in the UGO1-like protein SLC25A46 cause an optic atrophy spectrum disorder

por Abrams, Alexander J., Hufnagel, Robert B., Rebelo, Adriana, Zanna, Claudia, Patel, Neville, Gonzalez, Michael A., Campeanu, Ion J., Griffin, Laurie B., Groenewald, Saskia, Strickland, Alleene V., Tao, Feifei, Speziani, Fiorella, Abreu, Lisa, Schüle, Rebecca, Caporali, Leonardo, La Morgia, Chiara, Maresca, Alessandra, Liguori, Rocco, Lodi, Raffaele, Ahmed, Zubair M., Sund, Kristen L., Wang, Xinjian, Krueger, Laura A., Peng, Yanyan, Prada, Carlos E., Prows, Cynthia A., Bove, Kevin, Schorry, Elizabeth K., Antonellis, Anthony, Zimmerman, Holly H., Abdul-Rahman, Omar A., Yang, Yaping, Downes, Susan M., Prince, Jeffery, Fontanesi, Flavia, Barrientos, Antonio, Nemeth, Andrea H., Carelli, Valerio, Huang, Taosheng, Zuchner, Stephan, Dallman, Julia E.
Publicado 2015

Frequency of genomic incidental findings among 21,915 eMERGE network participants

por Gordon, Adam S., Zouk, Hana, Venner, Eric, Eng, Christine M., Funke, Birgit H., Amendola, Laura M., Carrell, David S., Chisholm, Rex L., Chung, Wendy K., Denny, Joshua C., Fedotov, Alexander, Hakonarson, Hakon, Kullo, Iftikhar J., Larson, Eric B., Leduc, Magalie S., Leppig, Kathleen A., Lennon, Niall J., Linder, Jodell E., Muzny, Donna M., Prows, Cynthia A., Rasmussen-Torvik, Laura J., Rasouly, Hila Milo, Roden, Dan M., Rosenthal, Elisabeth A., Smith, Maureen E., Stanaway, Ian B., Van Driest, Sara L., Walker, Kimberly, Wiesner, Georgia L., Williams, Marc S., Witkowski, Leora, Crosslin, David R., Gibbs, Richard A., Rehm, Heidi L., Jarvik, Gail P.
Publicado 2020

Design and Anticipated Outcomes of the eMERGE-PGx Project: A Multi-Center Pilot for Pre-Emptive Pharmacogenomics in Electronic Health Record Systems

por Rasmussen-Torvik, Laura J., Stallings, Sarah C., Gordon, Adam S., Almoguera, Berta, Basford, Melissa A., Bielinski, Suzette J., Brautbar, Ariel, Brilliant, Murray, Carrell, David S., Connolly, John, Crosslin, David R., Doheny, Kimberly F., Gallego, Carlos J., Gottesman, Omri, Kim, Daniel Seung, Leppig, Kathleen A., Li, Rongling, Lin, Simon, Manzi, Shannon, Mejia, Ana R., Pacheco, Jennifer A., Pan, Vivian, Pathak, Jyotishman, Perry, Cassandra L., Peterson, Josh F., Prows, Cynthia A., Ralston, James, Rasmussen, Luke V., Ritchie, Marylyn D., Sadhasivam, Senthilkumar, Scott, Stuart A., Smith, Maureen, Vega, Aida, Vinks, Alexander A., Volpi, Simona, Wolf, Wendy A., Bottinger, Erwin, Chisholm, Rex L., Chute, Christopher G., Haines, Jonathan L., Harley, John B., Keating, Brendan, Holm, Ingrid A., Kullo, Iftikhar J., Jarvik, Gail P., Larson, Eric B., Manolio, Teri, McCarty, Catherine A., Nickerson, Deborah A., Scherer, Steven E., Williams, Marc S., Roden, Dan M., Denny, Joshua C.
Publicado 2014

Selection, optimization, and validation of ten chronic disease polygenic risk scores for clinical implementation in diverse populations

por Lennon, Niall J, Kottyan, Leah C, Kachulis, Christopher, Abul-Husn, Noura, Arias, Josh, Belbin, Gillian, Below, Jennifer E, Berndt, Sonja, Chung, Wendy, Cimino, James J., Clayton, Ellen Wright, Connolly, John J., Crosslin, David, Dikilitas, Ozan, Velez Edwards, Digna R., Feng, QiPing, Fisher, Marissa, Freimuth, Robert, Ge, Tian, Glessner, Joseph T., Gordon, Adam, Guiducci, Candace, Hakonarson, Hakon, Harden, Maegan, Harr, Margaret, Hirschhorn, Joel, Hoggart, Clive, Hsu, Li, Irvin, Ryan, Jarvik, Gail P., Karlson, Elizabeth W., Khan, Atlas, Khera, Amit, Kiryluk, Krzysztof, Kullo, Iftikhar, Larkin, Katie, Limdi, Nita, Linder, Jodell E., Loos, Ruth, Luo, Yuan, Malolepsza, Edyta, Manolio, Teri, Martin, Lisa J., McCarthy, Li, Meigs, James B, Mersha, Tesfaye B., Mosley, Jonathan, Namjou, Bahram, Pai, Nihal, Pesce, Lorenzo L., Peters, Ulrike, Peterson, Josh, Prows, Cynthia A., Puckelwartz, Megan J., Rehm, Heidi, Roden, Dan, Rosenthal, Elisabeth A., Rowley, Robb, Sawicki, Konrad Teodor, Schaid, Dan, Schmidlen, Tara, Smit, Roelof, Smith, Johanna, Smoller, Jordan W., Thomas, Minta, Tiwari, Hemant, Toledo, Diana, Vaitinadin, Nataraja Sarma, Veenstra, David, Walunas, Theresa, Wang, Zhe, Wei, Wei-Qi, Weng, Chunhua, Wiesner, Georgia, Xianyong, Yin, Kenny, Eimear
Publicado 2023