檢索結果 - Bonner, Devon
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Developing a genomics rotation: Practical training around variant interpretation for genetic counseling students 由 Grove, Megan E., White, Shana, Fisk, Dianna G., Rego, Shannon, Dagan-Rosenfeld, Orit, Kohler, Jennefer N., Reuter, Chloe M., Bonner, Devon, Wheeler, Matthew T., Bernstein, Jonathan A., Ormond, Kelly E., Hanson-Kahn, Andrea K.
出版 2019Text -
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A Toolkit for Genetics Providers in Follow-up of Patients with Non-Diagnostic Exome Sequencing 由 Zastrow, Diane B., Kohler, Jennefer N., Bonner, Devon, Reuter, Chloe M., Fernandez, Liliana, Grove, Megan E., Fisk, Dianna G., Yang, Yaping, Eng, Christine M., Ward, Patricia A., Bick, David, Worthey, Elizabeth A., Fisher, Paul G., Ashley, Euan A., Bernstein, Jonathan A., Wheeler, Matthew T.
出版 2019Text -
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Identification of rare and common regulatory variants in pluripotent cells using population-scale transcriptomics 由 Bonder, Marc Jan, Smail, Craig, Gloudemans, Michael J., Frésard, Laure, Jakubosky, David, D’Antonio, Matteo, Li, Xin, Ferraro, Nicole M., Carcamo-Orive, Ivan, Mirauta, Bogdan, Seaton, Daniel D., Cai, Na, Vakili, Dara, Horta, Danilo, Zhao, Chunli, Zastrow, Diane B., Bonner, Devon E., Wheeler, Matthew T., Kilpinen, Helena, Knowles, Joshua W., Smith, Erin N., Frazer, Kelly A., Montgomery, Stephen B., Stegle, Oliver
出版 2021Text -
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Yield of Whole Exome Sequencing in Undiagnosed Patients Facing Insurance Coverage Barriers to Genetic Testing 由 Reuter, Chloe M., Kohler, Jennefer N., Bonner, Devon, Zastrow, Diane, Fernandez, Liliana, Dries, Annika, Marwaha, Shruti, Davidson, Jean, Brokamp, Elly, Herzog, Matthew, Hong, Joyce, Macnamara, Ellen, Rosenfeld, Jill A., Schoch, Kelly, Spillmann, Rebecca, Loscalzo, Joseph, Krier, Joel, Stoler, Joan, Sweetser, David, Palmer, Christina G.S., Phillips, John A, Shashi, Vandana, Adams, David A., Yang, Yaping, Ashley, Euan A., Fisher, Paul G., Mulvihill, John J., Bernstein, Jonathan A., Wheeler, Matthew T.
出版 2019Text -
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Clinical sites of the Undiagnosed Diseases Network: Unique contributions to genomic medicine and science 由 Schoch, Kelly, Esteves, Cecilia, Bican, Anna, Spillmann, Rebecca, Cope, Heidi, McConkie-Rosell, Allyn, Walley, Nicole, Fernandez, Liliana, Kohler, Jennefer N, Bonner, Devon, Reuter, Chloe, Stong, Nicholas, Mulvihill, John J., Novacic, Donna, Wolfe, Lynne, Abdelbaki, Ayat, Toro, Camilo, Tifft, Cyndi, Malicdan, May, Gahl, William, Liu, Pengfei, Newman, John, Goldstein, David B., Hom, Jason, Sampson, Jacinda, Wheeler, Matthew T., Cogan, Joy, Bernstein, Jonathan A., Adams, David R., McCray, Alexa T., Shashi, Vandana
出版 2020Text -
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Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation 由 Beijer, Danique, Kim, Hong Joo, Guo, Lin, O’Donovan, Kevin, Mademan, Inès, Deconinck, Tine, Van Schil, Kristof, Fare, Charlotte M., Drake, Lauren E., Ford, Alice F., Kochański, Andrzej, Kabzińska, Dagmara, Dubuisson, Nicolas, Van den Bergh, Peter, Voermans, Nicol C., Lemmers, Richard J.L.F., van der Maarel, Silvère M., Bonner, Devon, Sampson, Jacinda B., Wheeler, Matthew T., Mehrabyan, Anahit, Palmer, Steven, De Jonghe, Peter, Shorter, James, Taylor, J. Paul, Baets, Jonathan
出版 2021Text -
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Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts 由 Frésard, Laure, Smail, Craig, Ferraro, Nicole M., Teran, Nicole A., Li, Xin, Smith, Kevin S., Bonner, Devon, Kernohan, Kristin D., Marwaha, Shruti, Zappala, Zachary, Balliu, Brunilda, Davis, Joe R., Liu, Boxiang, Prybol, Cameron J., Kohler, Jennefer N., Zastrow, Diane B., Reuter, Chloe M., Fisk, Dianna G., Grove, Megan E., Davidson, Jean M., Hartley, Taila, Joshi, Ruchi, Strober, Benjamin J., Utiramerur, Sowmithri, Lind, Lars, Ingelsson, Erik, Battle, Alexis, Bejerano, Gill, Bernstein, Jonathan A., Ashley, Euan A., Boycott, Kym M., Merker, Jason D., Wheeler, Matthew T., Montgomery, Stephen B.
出版 2019Text