Suchergebnisse - Funke, Birgit H.

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

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

Volltext Volltext Volltext

Genetic Misdiagnoses and the Potential for Health Disparities von 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.

Volltext Volltext Volltext

Next generation sequencing‐based copy number analysis reveals low prevalence of deletions and duplications in 46 genes associated with genetic cardiomyopathies von 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.

Volltext Volltext Volltext

Analysis of TBX1 Variation in Patients with Psychotic and Affective Disorders von 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

Volltext Volltext Volltext

Evaluation of Second-Generation Sequencing of 19 Dilated Cardiomyopathy Genes for Clinical Applications von 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.

Volltext Volltext Volltext

ACMG clinical laboratory standards for next-generation sequencing von 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

Volltext Volltext Volltext

Development and Validation of a Computational Method for Assessment of Missense Variants in Hypertrophic Cardiomyopathy von 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.

Volltext Volltext Volltext

LAMP2 microdeletions in patients with Danon disease von 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

Volltext Volltext Volltext

The CHC22 Clathrin-GLUT4 Transport Pathway Contributes to Skeletal Muscle Regeneration von 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.

Volltext Volltext Volltext

The GeneInsight Suite: A Platform to Support Laboratory and Provider Use of DNA based Genetic Testing von 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.

Volltext Volltext Volltext

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples von 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

Volltext Volltext Volltext

A novel custom resequencing array for dilated cardiomyopathy von 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.

Volltext Volltext

The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care von 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.

Volltext Volltext Volltext

Genetic Testing for Dilated Cardiomyopathy in Clinical Practice von 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.

Volltext Volltext Volltext

Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): Lessons Learned and Plans for the Future von 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.

Volltext Volltext Volltext