نتائج البحث - Funke, Birgit H

The Changing Landscape of Molecular Diagnostic Testing: Implications for Academic Medical Centers حسب Rehm, Heidi L., Hynes, Elizabeth, Funke, Birgit H.

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Dilated Cardiomyopathy حسب Lakdawala, Neal K., Winterfield, Jeffery R., Funke, Birgit H.

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NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes حسب Ceyhan-Birsoy, Ozge, Miatkowski, Maya M, Hynes, Elizabeth, Funke, Birgit H, Mason-Suares, Heather

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NGS identifies TAZ mutation in a family with X-linked dilated cardiomyopathy حسب Man, Elim, Lafferty, Katherine A, Funke, Birgit H, Lun, Kin-Shing, Chan, Shu-Yan, Chau, Adolphus Kai-Tung, Chung, Brian Hon-Yin

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A Role for the CHC22 Clathrin Heavy Chain Isoform in Human Glucose Metabolism حسب Vassilopoulos, Stéphane, Esk, Christopher, Hoshino, Sachiko, Funke, Birgit H., Chen, Chih-Ying, Plocik, Alex M., Wright, Woodring E., Kucherlapati, Raju, Brodsky, Frances M.

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Familial dilated cardiomyopathy associated with congenital defects in the setting of a novel VCL mutation (Lys815Arg) in conjunction with a known MYPBC3 variant حسب Wells, Quinn S., Ausborn, Natalie L., Funke, Birgit H, Pfotenhauer, Jean P., Fredi, Joseph L., Baxter, Samantha, DiSalvo, Thomas D., Hong, Charles C.

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Genetic Misdiagnoses and the Potential for Health Disparities حسب Manrai, Arjun K., Funke, Birgit H., Rehm, Heidi L., Olesen, Morten S., Maron, Bradley A., Szolovits, Peter, Margulies, David M., Loscalzo, Joseph, Kohane, Isaac S.

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Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies حسب Ceyhan‐Birsoy, Ozge, Pugh, Trevor J., Bowser, Mark J., Hynes, Elizabeth, Frisella, Ashley L., Mahanta, Lisa M., Lebo, Matt S., Amr, Sami S., Funke, Birgit H.

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Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders حسب Funke, Birgit H, Lencz, Todd, Finn, Christine T, DeRosse, Pamela, Poznik, G David, Plocik, Alex M, Kane, John, Rogus, John, Malhotra, Anil K, Kucherlapati, Raju

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Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications حسب Gowrisankar, Sivakumar, Lerner-Ellis, Jordan P., Cox, Stephanie, White, Emily T., Manion, Megan, LeVan, Kevin, Liu, Jonathan, Farwell, Lisa M., Iartchouk, Oleg, Rehm, Heidi L., Funke, Birgit H.

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ACMG clinical laboratory standards for next-generation sequencing حسب Rehm, Heidi L., Bale, Sherri J, Bayrak-Toydemir, Pinar, Berg, Jonathan S, Brown, Kerry K, Deignan, Joshua L, Friez, Michael J, Funke, Birgit H, Hegde, Madhuri R, Lyon, Elaine

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Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy حسب Jordan, Daniel M., Kiezun, Adam, Baxter, Samantha M., Agarwala, Vineeta, Green, Robert C., Murray, Michael F., Pugh, Trevor, Lebo, Matthew S., Rehm, Heidi L., Funke, Birgit H., Sunyaev, Shamil R.

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LAMP2 microdeletions in patients with Danon disease حسب Yang, Zhao, Funke, Birgit H., Cripe, Linda H., Vick, G. Wesley, Mancini-Dinardo, Debora, Peña, Liana S., Kanter, Ronald J., Wong, Brenda, Westerfield, Brandy H., Varela, Jaquelin J, Fan, Yuxin, Towbin, Jeffrey A., Vatta, Matteo

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The CHC22 Clathrin-GLUT4 Transport Pathway Contributes to Skeletal Muscle Regeneration حسب Hoshino, Sachiko, Sakamoto, Kazuho, Vassilopoulos, Stéphane, Camus, Stéphane M., Griffin, Christine A., Esk, Christopher, Torres, Jorge A., Ohkoshi, Norio, Ishii, Akiko, Tamaoka, Akira, Funke, Birgit H., Kucherlapati, Raju, Margeta, Marta, Rando, Thomas A., Brodsky, Frances M.

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The GeneInsight Suite: A Platform to Support Laboratory and Provider Use of DNA based Genetic Testing حسب Aronson, Samuel J., Clark, Eugene H., Babb, Lawrence J, Baxter, Samantha, Farwell, Lisa M., Funke, Birgit H., Hernandez, Amy Lovelette, Joshi, Victoria A., Lyon, Elaine, Parthum, Andrew R., Russell, Franklin J., Varugheese, Matthew, Venman, Thomas C., Rehm, Heidi L.

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Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples حسب Walsh, Roddy, Thomson, Kate L., Ware, James S., Funke, Birgit H., Woodley, Jessica, McGuire, Karen J., Mazzarotto, Francesco, Blair, Edward, Seller, Anneke, Taylor, Jenny C., Minikel, Eric V., Exome Aggregation Consortium, MacArthur, Daniel G., Farrall, Martin, Cook, Stuart A., Watkins, Hugh

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A novel custom resequencing array for dilated cardiomyopathy حسب Zimmerman, Rebekah S., Cox, Stephanie, Lakdawala, Neal K., Cirino, Allison, Mancini-DiNardo, Debora, Clark, Eugene, Leon, Annette, Duffy, Elizabeth, White, Emily, Baxter, Samantha, Alaamery, Manal, Farwell, Lisa, Weiss, Scott, Seidman, Christine E., Seidman, Jonathan G., Ho, Carolyn Y., Rehm, Heidi L., Funke, Birgit H.

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The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care حسب Kaul, Karen L., Sabatini, Linda M., Tsongalis, Gregory J., Caliendo, Angela M., Olsen, Randall J., Ashwood, Edward R., Bale, Sherri, Benirschke, Robert, Carlow, Dean, Funke, Birgit H., Grody, Wayne W., Hayden, Randall T., Hegde, Madhuri, Lyon, Elaine, Murata, Kazunori, Pessin, Melissa, Press, Richard D., Thomson, Richard B.

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Genetic Testing for Dilated Cardiomyopathy in Clinical Practice حسب Lakdawala, Neal K., Funke, Birgit H., Baxter, Samantha, Cirino, Allison L., Roberts, Amy E., Judge, Daniel P., Johnson, Nicole, Mendelsohn, Nancy J., Morel, Chantal, Care, Melanie, Chung, Wendy K., Jones, Carolyn, Psychogios, Apostolos, Duffy, Elizabeth, Rehm, Heidi L., White, Emily, Seidman, J.G., Seidman, Christine E., Ho, Carolyn Y.

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Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future حسب Milko, Laura V., Funke, Birgit H., Hershberger, Ray E., Azzariti, Danielle R., Lee, Kristy, Riggs, Erin R., Rivera-Munoz, Edgar A., Weaver, Meredith A., Niehaus, Annie, Currey, Erin L., Craigen, William J., Mao, Rong, Offit, Kenneth, Steiner, Robert D., Martin, Christa L., Rehm, Heidi L., Watson, Michael S., Ramos, Erin M., Plon, Sharon E., Berg, Jonathan S.

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