检索结果 - Walton Nephi
- Showing 1 - 19 results of 19
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Development of a Genomic Data Flow Framework: Results of a Survey Administered to NIH-NHGRI IGNITE and eMERGE Consortia Participants 由 Dexter, Paul, Ong, Henry, Elsey, Amanda, Bell, Gillian, Walton, Nephi, Chung, Wendy, Rasmussen, Luke, Hicks, Kevin, Owusu-obeng, Aniwaa, Scott, Stuart, Ellis, Steve, Peterson, Josh
出版 2020Text -
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User testing of a diagnostic decision support system with machine-assisted chart review to facilitate clinical genomic diagnosis 由 Kulchak Rahm, Alanna, Walton, Nephi A, Feldman, Lynn K, Jenkins, Conner, Jenkins, Troy, Person, Thomas N, Peterson, Joeseph, Reynolds, Jonathon C, Robinson, Peter N, Woltz, Makenzie A, Williams, Marc S, Segal, Michael M
出版 2021Text -
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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... 由 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
出版 2019Text -
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Comorbidity Characterization Among eMERGE Institutions: A Pilot Evaluation with the Johns Hopkins Adjusted Clinical Groups® System 由 Taylor, Casey Overby, Lemke, Klaus W., Richards, Thomas M., Roe, Kenneth D., He, Ting, Arruda-Olson, Adelaide, Carrell, David, Denny, Joshua C., Hripcsak, George, Kiryluk, Krzysztof, Kullo, Iftikhar, Larson, Eric B., Peissig, Peggy, Walton, Nephi A., Wei-Qi, Wei, Ye, Zi, Chute, Christopher G., Weiner, Jonathan P.
出版 2019Text -
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Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis 由 Sadler, Brooke, Haller, Gabe, Antunes, Lilian, Bledsoe, Xavier, Morcuende, Jose A., Giampietro, Philip, Raggio, Cathleen, Hadley-Miller, Nancy, Kidane, Yared, Wise, Carol A., Amarillo, Ina, Walton, Nephi, Seeley, Mark, Johnson, Darren, Jenkins, Conner, Jenkins, Troy, Oetjens, Matthew, Tong, R. Spencer, Druley, Todd E., Dobbs, Matthew B., Gurnett, Christina A.
出版 2019Text -
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Under-specification as the source of ambiguity and vagueness in narrative phenotype algorithm definitions 由 Yu, Jingzhi, Pacheco, Jennifer A., Ghosh, Anika S., Luo, Yuan, Weng, Chunhua, Shang, Ning, Benoit, Barbara, Carrell, David S., Carroll, Robert J., Dikilitas, Ozan, Freimuth, Robert R., Gainer, Vivian S., Hakonarson, Hakon, Hripcsak, George, Kullo, Iftikhar J., Mentch, Frank, Murphy, Shawn N., Peissig, Peggy L., Ramirez, Andrea H., Walton, Nephi, Wei, Wei-Qi, Rasmussen, Luke V.
出版 2022Text -
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POLR1B and neural crest cell anomalies in Treacher Collins syndrome type 4 由 Elodie Sanchez, Béryl Laplace-Builhé, Frédéric Tran Mau‐Them, Eric Richard, Alice Goldenberg, Tomi L. Toler, Thomas Guignard, Vincent Gâtinois, Marie Vincent, Catherine Blanchet, Anne Boland, Marie Thérèse Bihoreau, Jean‐François Deleuze, Robert Olaso, Walton Nephi, Hermann‐Josef Lüdecke, Joanne Verheij, Florence Moreau-Lenoir, Françoise Denoyelle, Jean‐Baptiste Rivière, Jean Laplanche, Marcia Willing, Guillaume Captier, Florence Apparailly, Dagmar Wieczorek, Corinne Collet, Farida Djouad, David Geneviève
出版 2019Artigo -
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Developing and Optimizing Innovative Tools to Address Familial Hypercholesterolemia Underdiagnosis: Identification Methods, Patient Activation, and Cascade Testing for Familial Hyp... 由 Campbell-Salome, Gemme, Jones, Laney K., Masnick, Max F., Walton, Nephi A., Ahmed, Catherine D., Buchanan, Adam H., Brangan, Andrew, Esplin, Edward D., Kann, David G., Ladd, Ilene G., Kelly, Melissa A., Kindt, Iris, Kirchner, H. Lester, McGowan, Mary P., McMinn, Megan N., Morales, Ana, Myers, Kelly D., Oetjens, Matthew T., Rahm, Alanna Kulchak, Schmidlen, Tara J., Sheldon, Amanda, Simmons, Emilie, Snir, Moran, Strande, Natasha T., Walters, Nicole L., Wilemon, Katherine, Williams, Marc S., Gidding, Samuel S., Sturm, Amy C.
出版 2021Text -
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Semantic integration of clinical laboratory tests from electronic health records for deep phenotyping and biomarker discovery 由 Zhang, Xingmin Aaron, Yates, Amy, Vasilevsky, Nicole, Gourdine, J. P., Callahan, Tiffany J., Carmody, Leigh C., Danis, Daniel, Joachimiak, Marcin P., Ravanmehr, Vida, Pfaff, Emily R., Champion, James, Robasky, Kimberly, Xu, Hao, Fecho, Karamarie, Walton, Nephi A., Zhu, Richard L., Ramsdill, Justin, Mungall, Christopher J., Köhler, Sebastian, Haendel, Melissa A., McDonald, Clement J., Vreeman, Daniel J., Peden, David B., Bennett, Tellen D., Feinstein, James A., Martin, Blake, Stefanski, Adrianne L., Hunter, Lawrence E., Chute, Christopher G., Robinson, Peter N.
出版 2019Text -
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Association of Genetic Risk for Obesity with Postoperative Complications Using Mendelian Randomization 由 Robinson, Jamie R., Carroll, Robert J., Bastarache, Lisa, Chen, Qingxia, Mou, Zongyang, Wei, Wei-Qi, Connolly, John J., Mentch, Frank, Sleiman, Patrick, Crane, Paul K., Hebbring, Scott J., Stanaway, Ian B., Crosslin, David R., Gordon, Adam S., Rosenthal, Elisabeth A., Carrell, David, Hayes, M. Geoffrey, Wei, Wei, Petukhova, Lynn, Namjou, Bahram, Zhang, Ge, Safarova, Maya S., Walton, Nephi A., Still, Christopher, Bottinger, Erwin P., Loos, Ruth J. F., Murphy, Shawn N., Jackson, Gretchen P., Kullo, Iftikhar J., Hakonarson, Hakon, Jarvik, Gail P., Larson, Eric B., Weng, Chunhua, Roden, Dan M., Denny, Joshua C.
出版 2020Text -
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A research agenda to support the development and implementation of genomics-based clinical informatics tools and resources 由 Wiley, Ken, Findley, Laura, Goldrich, Madison, Rakhra-Burris, Tejinder K, Stevens, Ana, Williams, Pamela, Bult, Carol J, Chisholm, Rex, Deverka, Patricia, Ginsburg, Geoffrey S, Green, Eric D, Jarvik, Gail, Mensah, George A, Ramos, Erin, Relling, Mary V, Roden, Dan M, Rowley, Robb, Alterovitz, Gil, Aronson, Samuel, Bastarache, Lisa, Cimino, James J, Crowgey, Erin L, Del Fiol, Guilherme, Freimuth, Robert R, Hoffman, Mark A, Jeff, Janina, Johnson, Kevin, Kawamoto, Kensaku, Madhavan, Subha, Mendonca, Eneida A, Ohno-Machado, Lucila, Pratap, Siddharth, Taylor, Casey Overby, Ritchie, Marylyn D, Walton, Nephi, Weng, Chunhua, Zayas-Cabán, Teresa, Manolio, Teri A, Williams, Marc S
出版 2022Text