檢索結果 - Funke, Birgit H

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

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

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NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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 由 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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