Resultados da busca - Harr, Margaret

Trisomy 9 mosaic syndrome: Sixteen additional patients with new and/or less commonly reported features, literature review, and suggested clinical guidelines por Li, Mindy, Glass, Jennifer, Du, Xiaoli, Dubbs, Holly, Harr, Margaret Horton, Falk, Marni, Smolarek, Teresa, Hopkin, Robert J., Zackai, Elaine, Sheppard, Sarah E.

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EGFR mutations cause a lethal syndrome of epithelial dysfunction with progeroid features por Ganetzky, Rebecca, Finn, Erin, Bagchi, Atrish, Zollo, Ornella, Conlin, Laura, Deardorff, Matthew, Harr, Margaret, Simpson, Michael A, McGrath, John A, Zackai, Elaine, Lemmon, Mark A, Sondheimer, Neal

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Implementing Pharmacogenetic Testing in Gastrointestinal Cancers (IMPACT-GI): Study Protocol for a Pragmatic Implementation Trial for Establishing DPYD and UGT1A1 Screening to Guid... por Varughese, Lisa A., Bhupathiraju, Madhuri, Hoffecker, Glenda, Terek, Shannon, Harr, Margaret, Hakonarson, Hakon, Cambareri, Christine, Marini, Jessica, Landgraf, Jeffrey, Chen, Jinbo, Kanter, Genevieve, Lau-Min, Kelsey S., Massa, Ryan C., Damjanov, Nevena, Reddy, Nandi J., Oyer, Randall A., Teitelbaum, Ursina R., Tuteja, Sony

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Harmonizing Outcomes for Genomic Medicine: Comparison of eMERGE Outcomes to ClinGen Outcome/Intervention Pairs por Williams, Janet L., Chung, Wendy K., Fedotov, Alex, Kiryluk, Krzysztof, Weng, Chunhua, Connolly, John J., Harr, Margaret, Hakonarson, Hakon, Leppig, Kathleen A., Larson, Eric B., Jarvik, Gail P., Veenstra, David L., Hoell, Christin, Smith, Maureen E., Holm, Ingrid A., Peterson, Josh F., Williams, Marc S.

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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 por Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Škrjanec Pušenjak, Maruša, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.

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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3 por Nair, Divya, Li, Dong, Erdogan, Hannah, Yoon, Andrew, Harr, Margaret H., Bergant, Gaber, Peterlin, Borut, Pušenjak, Maruša Škrjanec, Jayakar, Parul, Pfundt, Rolph, Jansen, Sandra, McWalter, Kirsty, Sidhu, Alpa, Saliganan, Sheila, Agolini, Emanuele, Jacob, Arthur, Pasquier, Jennifer, Arash, Rafii, Kahrizi, Kimia, Najmabadi, Hossein, Ropers, Hans-Hilger, Bhoj, Elizabeth J.

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Participant choices for return of genomic results in the eMERGE Network por Hoell, Christin, Wynn, Julia, Rasmussen, Luke V., Marsolo, Keith, Aufox, Sharon A., Chung, Wendy K., Connolly, John J., Freimuth, Robert R., Kochan, David, Hakonarson, Hakon, Harr, Margaret, Holm, Ingrid A., Kullo, Iftikhar J., Lammers, Philip E., Leppig, Kathleen A., Leslie, Nancy D., Myers, Melanie F., Sharp, Richard R., Smith, Maureen E., Prows, Cynthia A.

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Practice Patterns after Return of Rare Variants Associated with Cardiomyopathy in the electronic MEdical Records and GEnomics (eMERGE) Network por Khan, Sadiya S., Hoell, Christin, Castillo, Lisa M., Connolly, John J., Crosslin, David R., Chung, Wendy K., Gordon, Adam S., Harr, Margaret, Jarvik, Gail P., Kullo, Iftikhar, Larson, Eric B., Leppig, Kathleen A., Manolio, Teri, Pacheco, Jennifer A., Ralston, James D., Puckelwartz, Megan J., Smith, Maureen E., Wells, Quinn, McNally, Elizabeth M., Rasmussen-Torvik, Laura J.

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Mutations in SPECC1L, encoding sperm antigen with calponin homology and coiled-coil domains 1-like, are found in some cases of autosomal dominant Opitz G/BBB syndrome por Kruszka, Paul, Li, Dong, Harr, Margaret H, Wilson, Nathan R, Swarr, Daniel, McCormick, Elizabeth M, Chiavacci, Rosetta M, Li, Mindy, Martinez, Ariel F, Hart, Rachel A, McDonald-McGinn, Donna M, Deardorff, Matthew A, Falk, Marni J, Allanson, Judith E, Hudson, Cindy, Johnson, John P, Saadi, Irfan, Hakonarson, Hakon, Muenke, Maximilian, Zackai, Elaine H

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Mutations in TBCK, Encoding TBC1-Domain-Containing Kinase, Lead to a Recognizable Syndrome of Intellectual Disability and Hypotonia por Bhoj, Elizabeth J., Li, Dong, Harr, Margaret, Edvardson, Shimon, Elpeleg, Orly, Chisholm, Elizabeth, Juusola, Jane, Douglas, Ganka, Guillen Sacoto, Maria J., Siquier-Pernet, Karine, Saadi, Abdelkrim, Bole-Feysot, Christine, Nitschke, Patrick, Narravula, Alekhya, Walke, Maria, Horner, Michele B., Day-Salvatore, Debra-Lynn, Jayakar, Parul, Vergano, Samantha A. Schrier, Tarnopolsky, Mark A., Hegde, Madhuri, Colleaux, Laurence, Crino, Peter, Hakonarson, Hakon

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Mutations in topoisomerase IIβ result in a B cell immunodeficiency por Broderick, Lori, Yost, Shawn, Li, Dong, McGeough, Matthew D., Booshehri, Laela M., Guaderrama, Marisela, Brydges, Susannah D., Kucharova, Karolina, Patel, Niraj C., Harr, Margaret, Hakonarson, Hakon, Zackai, Elaine, Cowell, Ian G., Austin, Caroline A., Hügle, Boris, Gebauer, Corinna, Zhang, Jianguo, Xu, Xun, Wang, Jian, Croker, Ben A., Frazer, Kelly A., Putnam, Christopher D., Hoffman, Hal M.

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De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea por Xia, Fan, Bainbridge, Matthew N., Tan, Tiong Yang, Wangler, Michael F., Scheuerle, Angela E., Zackai, Elaine H., Harr, Margaret H., Sutton, V. Reid, Nalam, Roopa L., Zhu, Wenmiao, Nash, Margot, Ryan, Monique M., Yaplito-Lee, Joy, Hunter, Jill V., Deardorff, Matthew A., Penney, Samantha J., Beaudet, Arthur L., Plon, Sharon E., Boerwinkle, Eric A., Lupski, James R., Eng, Christine M., Muzny, Donna M., Yang, Yaping, Gibbs, Richard A.

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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.

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Missense Mutations in NKAP Cause a Disorder of Transcriptional Regulation Characterized by Marfanoid Habitus and Cognitive Impairment por Fiordaliso, Sarah K., Iwata-Otsubo, Aiko, Ritter, Alyssa L., Quesnel-Vallières, Mathieu, Fujiki, Katsunori, Nishi, Eriko, Hancarova, Miroslava, Miyake, Noriko, Morton, Jenny E.V., Lee, Sangmoon, Hackmann, Karl, Bando, Masashige, Masuda, Koji, Nakato, Ryuichiro, Arakawa, Michiko, Bhoj, Elizabeth, Li, Dong, Hakonarson, Hakon, Takeda, Ryojun, Harr, Margaret, Keena, Beth, Zackai, Elaine H., Okamoto, Nobuhiko, Mizuno, Seiji, Ko, Jung Min, Valachova, Alica, Prchalova, Darina, Vlckova, Marketa, Pippucci, Tommaso, Seiler, Christoph, Choi, Murim, Matsumoto, Naomichi, Di Donato, Nataliya, Barash, Yoseph, Sedlacek, Zdenek, Shirahige, Katsuhiko, Izumi, Kosuke

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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.

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Do research participants share genomic screening results with family members? por Wynn, Julia, Rasouly, Hila Milo, Vasquez-Loarte, Tania, Saami, Akilan M., Weiss, Robyn, Ziniel, Sonja I., Appelbaum, Paul S., Clayton, Ellen Wright, Christensen, Kurt D., Fasel, David, Green, Robert C., Hain, Heather S., Harr, Margaret, Hoell, Christin, Kullo, Iftikhar J, Leppig, Kathleen A., Myers, Melanie F., Pacyna, Joel E., Perez, Emma F., Prows, Cynthia A., Rahm, Alanna Kulchak, Campbell-Salome, Gemme, Sharp, Richard R., Smith, Maureen E, Wiesner, Georgia L., Williams, Janet L., Zawatsky, Carrie L. Blout, Gharavi, Ali G., Chung, Wendy K., Holm, Ingrid A.

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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.

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Recurrent Arginine Substitutions in the ACTG2 Gene are the Primary Driver of Disease Burden and Severity in Visceral Myopathy por Batzir, Nurit Assia, Bhagwat, Pranjali K., Larson, Austin, Akdemir, Zeynep C., Bagłaj, Maciej, Bofferding, Leon, Bosanko, Katherine B., Bouassida, Skander, Callewaert, Bert, Cannon, Ashley, Colon, Yazmin E., Garnica, Adolfo D., Harr, Margaret H., Heck, Sandra, Hurst, Anna C., Jhangiani, Shalini N., Isidor, Bertrand, Littlejohn, Rebecca O., Liu, Pengfei, Magoulas, Pilar, Fan, Helen Mar, Marom, Ronit, McLean, Scott, Nezarati, Marjan M., Nugent, Kimberly M., Petersen, Michael B., Rocha, Maria L., Roeder, Elizabeth, Smigiel, Robert, Tully, Ian, Weisfeld-Adams, James, Wells, Katerina O., Lupski, James R., Beaudet, Arthur L., Wangler, Michael F.

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Autosomal Recessive Noonan Syndrome Associated with Biallelic LZTR1Variants por Johnston, Jennifer J., van der Smagt, Jasper J., Rosenfeld, Jill A., Pagnamenta, Alistair T., Alswaid, Abdulrahman, Baker, Eva H., Blair, Edward, Borck, Guntram, Brinkmann, Julia, Craigen, William, Dung, Vu Chi, Emrick, Lisa, Everman, David B., van Gassen, Koen L., Gulsuner, Suleyman, Harr, Margaret H., Jain, Mahim, Kuechler, Alma, Leppig, Kathleen A., McDonald-McGinn, Donna M., Ngoc, Can Thi Bich, Peleg, Amir, Roeder, Elizabeth R., Rogers, R. Curtis, Sagi-Dain, Lena, Sapp, Julie C., Schäffer, Alejandro A., Schanze, Denny, Stewart, Helen, Taylor, Jenny C., Verbeek, Nienke E., Walkiewicz, Magdalena A., Zackai, Elaine H., Zweier, Christiane, Zenker, Martin, Lee, Brendan, Biesecker, Leslie G.

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Mandibulofacial Dysostosis with Microcephaly: Mutation and Database Update por Huang, Lijia, Vanstone, Megan R., Hartley, Taila, Osmond, Matthew, Barrowman, Nick, Allanson, Judith, Baker, Laura, Dabir, Tabib A., Dipple, Katrina M., Dobyns, William B., Estrella, Jane, Faghfoury, Hanna, Favaro, Francine P., Goel, Himanshu, Gregersen, Pernille A., Gripp, Karen W., Grix, Art, Guion-Almeida, Maria-Leine, Harr, Margaret H., Hudson, Cindy, Hunter, Alasdair G.W., Johnson, John, Joss, Shelagh K., Kimball, Amy, Kini, Usha, Kline, Antonie D., Lauzon, Julie, Lildballe, Dorte L., López-González, Vanesa, Martinezmoles, Johanna, Meldrum, Cliff, Mirzaa, Ghayda M., Morel, Chantal F., Morton, Jenny E.V., Pyle, Louise C., Quintero-Rivera, Fabiola, Richer, Julie, Scheuerle, Angela E., Schönewolf-Greulich, Bitten, Shears, Deborah J., Silver, Josh, Smith, Amanda C., Temple, I. Karen, van de Kamp, Jiddeke M., van Dijk, Fleur S., Vandersteen, Anthony M., White, Sue M., Zackai, Elaine H., Zou, Ruobing, Bulman, Dennis E., Boycott, Kym M., Lines, Matthew A.

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