检索结果 - Segal, Michael M

Genome interpretation: Clinical correlation is recommended 由 Segal, Michael M.

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Nitric oxide-related species inhibit evoked neurotransmission but enhance spontaneous miniature synaptic currents in central neuronal cultures 由 Pan, Zhuo-Hua, Segal, Michael M., Lipton, Stuart A.

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Molecular characterization of Br-cadherin, a developmentally regulated, brain-specific cadherin 由 Selig, Sara, Lidov, Hart G. W., Bruno, Sandra A., Segal, Michael M., Kunkel, Louis M.

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Clinician-centric diagnosis of rare genetic diseases: performance of a gene pertinence metric in decision support for clinicians 由 Segal, Michael M., George, Renee, Waltman, Peter, El-Hattab, Ayman W., James, Kiely N., Stanley, Valentina, Gleeson, Joseph

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Enhancing genomic laboratory reports: A qualitative analysis of provider review 由 Williams, Janet L., Rahm, Alanna Kulchak, Stuckey, Heather, Green, Jamie, Feldman, Lynn, Zallen, Doris T., Bonhag, Michele, Segal, Michael M., Fan, Audrey L., Williams, Marc S.

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Impact of a Patient-Facing Enhanced Genomic Results Report to Improve Understanding, Engagement, and Communication 由 Williams, Janet L., Rahm, Alanna Kulchak, Zallen, Doris T., Stuckey, Heather, Fultz, Kara, Fan, Audrey L., Bonhag, Michele, Feldman, Lynn, Segal, Michael M., Williams, Marc S.

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Clinical Pertinence Metric Enables Hypothesis-Independent Genome-Phenome Analysis for Neurologic Diagnosis 由 Segal, Michael M., Abdellateef, Mostafa, El-Hattab, Ayman W., Hilbush, Brian S., De La Vega, Francisco M., Tromp, Gerard, Williams, Marc S., Betensky, Rebecca A., Gleeson, Joseph

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Evidence-based decision support for pediatric rheumatology reduces diagnostic errors 由 Segal, Michael M., Athreya, Balu, Son, Mary Beth F., Tirosh, Irit, Hausmann, Jonathan S., Ang, Elizabeth Y. N., Zurakowski, David, Feldman, Lynn K., Sundel, Robert P.

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Lidocaine Ineffectiveness Suggests New Psychopharmacology Drug Target 由 Mintz, Mark, Badner, Victor, Feldman, Lynn K, Mintz, Pnina, Saraghi, Mana, Diaz, Jonathan, Mezhebovsky, Irina, Axelrod, Irene, Gleeson, Joseph, Liu, Chang, Smith, Cathy, Chow, Helen, Zurakowski, David, Segal, Michael M

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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

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Experience with Integrating Diagnostic Decision Support Software with Electronic Health Records: Benefits versus Risks of Information Sharing 由 Segal, Michael M., Rahm, Alanna K., Hulse, Nathan C., Wood, Grant, Williams, Janet L., Feldman, Lynn, Moore, Gregory J., Gehrum, David, Yefko, Michelle, Mayernick, Steven, Gildersleeve, Roger, Sunderland, Margie C., Bleyl, Steven B., Haug, Peter, Williams, Marc S.

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The Human Phenotype Ontology in 2021 由 Köhler, Sebastian, Gargano, Michael, Matentzoglu, Nicolas, Carmody, Leigh C, Lewis-Smith, David, Vasilevsky, Nicole A, Danis, Daniel, Balagura, Ganna, Baynam, Gareth, Brower, Amy M, Callahan, Tiffany J, Chute, Christopher G, Est, Johanna L, Galer, Peter D, Ganesan, Shiva, Griese, Matthias, Haimel, Matthias, Pazmandi, Julia, Hanauer, Marc, Harris, Nomi L, Hartnett, Michael J, Hastreiter, Maximilian, Hauck, Fabian, He, Yongqun, Jeske, Tim, Kearney, Hugh, Kindle, Gerhard, Klein, Christoph, Knoflach, Katrin, Krause, Roland, Lagorce, David, McMurry, Julie A, Miller, Jillian A, Munoz-Torres, Monica C, Peters, Rebecca L, Rapp, Christina K, Rath, Ana M, Rind, Shahmir A, Rosenberg, Avi Z, Segal, Michael M, Seidel, Markus G, Smedley, Damian, Talmy, Tomer, Thomas, Yarlalu, Wiafe, Samuel A, Xian, Julie, Yüksel, Zafer, Helbig, Ingo, Mungall, Christopher J, Haendel, Melissa A, Robinson, Peter N

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An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge 由 Brownstein, Catherine A, Beggs, Alan H, Homer, Nils, Merriman, Barry, Yu, Timothy W, Flannery, Katherine C, DeChene, Elizabeth T, Towne, Meghan C, Savage, Sarah K, Price, Emily N, Holm, Ingrid A, Luquette, Lovelace J, Lyon, Elaine, Majzoub, Joseph, Neupert, Peter, McCallie Jr, David, Szolovits, Peter, Willard, Huntington F, Mendelsohn, Nancy J, Temme, Renee, Finkel, Richard S, Yum, Sabrina W, Medne, Livija, Sunyaev, Shamil R, Adzhubey, Ivan, Cassa, Christopher A, de Bakker, Paul IW, Duzkale, Hatice, Dworzyński, Piotr, Fairbrother, William, Francioli, Laurent, Funke, Birgit H, Giovanni, Monica A, Handsaker, Robert E, Lage, Kasper, Lebo, Matthew S, Lek, Monkol, Leshchiner, Ignaty, MacArthur, Daniel G, McLaughlin, Heather M, Murray, Michael F, Pers, Tune H, Polak, Paz P, Raychaudhuri, Soumya, Rehm, Heidi L, Soemedi, Rachel, Stitziel, Nathan O, Vestecka, Sara, Supper, Jochen, Gugenmus, Claudia, Klocke, Bernward, Hahn, Alexander, Schubach, Max, Menzel, Mortiz, Biskup, Saskia, Freisinger, Peter, Deng, Mario, Braun, Martin, Perner, Sven, Smith, Richard JH, Andorf, Janeen L, Huang, Jian, Ryckman, Kelli, Sheffield, Val C, Stone, Edwin M, Bair, Thomas, Black-Ziegelbein, E Ann, Braun, Terry A, Darbro, Benjamin, DeLuca, Adam P, Kolbe, Diana L, Scheetz, Todd E, Shearer, Aiden E, Sompallae, Rama, Wang, Kai, Bassuk, Alexander G, Edens, Erik, Mathews, Katherine, Moore, Steven A, Shchelochkov, Oleg A, Trapane, Pamela, Bossler, Aaron, Campbell, Colleen A, Heusel, Jonathan W, Kwitek, Anne, Maga, Tara, Panzer, Karin, Wassink, Thomas, Van Daele, Douglas, Azaiez, Hela, Booth, Kevin, Meyer, Nic, Segal, Michael M, Williams, Marc S, Tromp, Gerard, White, Peter, Corsmeier, Donald, Fitzgerald-Butt, Sara, Herman, Gail, Lamb-Thrush, Devon, McBride, Kim L, Newsom, David, Pierson, Christopher R, Rakowsky, Alexander T, Maver, Aleš, Lovrečić, Luca, Palandačić, Anja, Peterlin, Borut, Torkamani, Ali, Wedell, Anna, Huss, Mikael, Alexeyenko, Andrey, Lindvall, Jessica M, Magnusson, Måns, Nilsson, Daniel, Stranneheim, Henrik, Taylan, Fulya, Gilissen, Christian, Hoischen, Alexander, van Bon, Bregje, Yntema, Helger, Nelen, Marcel, Zhang, Weidong, Sager, Jason, Zhang, Lu, Blair, Kathryn, Kural, Deniz, Cariaso, Michael, Lennon, Greg G, Javed, Asif, Agrawal, Saloni, Ng, Pauline C, Sandhu, Komal S, Krishna, Shuba, Veeramachaneni, Vamsi, Isakov, Ofer, Halperin, Eran, Friedman, Eitan, Shomron, Noam, Glusman, Gustavo, Roach, Jared C, Caballero, Juan, Cox, Hannah C, Mauldin, Denise, Ament, Seth A, Rowen, Lee, Richards, Daniel R, Lucas, F Anthony San, Gonzalez-Garay, Manuel L, Caskey, C Thomas, Bai, Yu, Huang, Ying, Fang, Fang, Zhang, Yan, Wang, Zhengyuan, Barrera, Jorge, Garcia-Lobo, Juan M, González-Lamuño, Domingo, Llorca, Javier, Rodriguez, Maria C, Varela, Ignacio, Reese, Martin G, De La Vega, Francisco M, Kiruluta, Edward, Cargill, Michele, Hart, Reece K, Sorenson, Jon M, Lyon, Gholson J, Stevenson, David A, Bray, Bruce E, Moore, Barry M, Eilbeck, Karen, Yandell, Mark, Zhao, Hongyu, Hou, Lin, Chen, Xiaowei, Yan, Xiting, Chen, Mengjie, Li, Cong, Yang, Can, Gunel, Murat, Li, Peining, Kong, Yong, Alexander, Austin C, Albertyn, Zayed I, Boycott, Kym M, Bulman, Dennis E, Gordon, Paul MK, Innes, A Micheil, Knoppers, Bartha M, Majewski, Jacek, Marshall, Christian R, Parboosingh, Jillian S, Sawyer, Sarah L, Samuels, Mark E, Schwartzentruber, Jeremy, Kohane, Isaac S, Margulies, David M

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